Prof. GÜLEN EDA ÜTİNE | AVESİS

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Publications & Works

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Published journal articles indexed by SCI, SSCI, and AHCI

ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report

JUMAYEVA G., SOĞUKPINAR M., KARAOSMANOĞLU B., ÜREL DEMİR G., GÖÇMEN R., ÜTİNE G. E., et al.

CLEFT PALATE CRANIOFACIAL JOURNAL , 2025 (SCI-Expanded)

Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?

AKGÖZ KOYUNCUOĞLU M., TAYLAN ŞEKEROĞLU H., ÜREL DEMİR G., Kiper O. S., KARAKAYA KARABULUT J., ÜTİNE G. E.

MOLECULAR SYNDROMOLOGY , 2025 (SCI-Expanded)

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a <i>CANT1</i> Variant Across Five Unrelated Families

Dasar T., ÜREL DEMİR G., İMREN G., ÜTİNE G. E., YILMAZ G., ŞİMŞEK KİPER P. Ö.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 2024 (SCI-Expanded)

Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion

KARAOSMANOĞLU B., İMREN G., Ozisin M. S., REÇBER T., ŞİMŞEK KİPER P. Ö., Haliloglu G., et al.

MOLECULAR BIOLOGY REPORTS , vol.51, no.1, 2024 (SCI-Expanded)

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome

ERKAN D. D., SOĞUKPINAR M., ÜREL DEMİR G., ÜTİNE G. E., ŞİMŞEK KİPER P. Ö.

MOLECULAR SYNDROMOLOGY , 2024 (SCI-Expanded)

Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants?

Buyuksahin H. N., EMİRALİOĞLU ORDUKAYA N., Yalcin E., ÖZCAN H. N., OĞUZ B., ÜTİNE G. E., et al.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH , vol.60, pp.754-756, 2024 (SCI-Expanded)

Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome

ENSERT CİHAN C. K., AKAR H. T., Ylldlz Y., SOĞUKPINAR M., ÜTİNE G. E., ÇELİK H. T.

Molecular Syndromology , vol.15, no.1, pp.83-88, 2024 (SCI-Expanded)

A Case of Opsismodysplasia with a Novel <i>INPPL1</i> Variant

Dasar T., AYPAR E., ÜTİNE G. E., ŞİMŞEK KİPER P. Ö.

MOLECULAR SYNDROMOLOGY , 2024 (SCI-Expanded)

Etiology of Primary Spontaneous pneumothorax in Children and Adolescents

Tural D. A., Ozsezen B., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., Buyuksahin H. N., GÜZELKAŞ İ., et al.

EUROPEAN RESPIRATORY JOURNAL , 2024 (SCI-Expanded)

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities

SOĞUKPINAR M., ÜREL DEMİR G., ÜTİNE G. E., GÖNÇ E. N., ÖZÖN Z. A., ŞİMŞEK KİPER P. Ö.

EUROPEAN JOURNAL OF PEDIATRICS , vol.183, no.9, pp.3819-3829, 2024 (SCI-Expanded)

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Sustainable Development

Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome

Dasar T., GÖNEN H. N., KÖSEMEHMETOĞLU K., TEKŞAM Ö., Boduroglu K., ÜTİNE G. E., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.66, no.2, pp.205-214, 2024 (SCI-Expanded) Sustainable Development

Sustainable Development

Delineation of <i>ADPRHL2</i> Variants: Report of Two New Patients with Review of the Literature

Yildiz S. O., Yalnizoglu D., ŞİMŞEK KİPER P. Ö., GÖÇMEN R., Sogukpinar M., Utine G. E., et al.

NEUROPEDIATRICS , vol.55, no.02, pp.156-165, 2024 (SCI-Expanded)

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Sustainable Development

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families

SOĞUKPINAR M., ÜTİNE G. E., Boduroğlu K., ŞİMŞEK KİPER P. Ö.

European Journal of Medical Genetics , vol.68, 2024 (SCI-Expanded)

A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis

Daşar T., YILDIZ A. E., Demirkıran G., ÜTİNE G. E., ŞİMŞEK KİPER P. Ö.

European Journal of Medical Genetics , vol.68, 2024 (SCI-Expanded)

CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case

SOYER T., BOYBEYİ TÜRER Ö., KARAOSMANOĞLU B., Taşkıran E., Şimşek Ö. P., ÜTİNE G. E.

Birth Defects Research , vol.116, no.1, 2024 (SCI-Expanded)

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families

Kolkıran A., Şimşek Kiper P. Ö., Topaloğlu Yasan G., Karaosmanoğlu B., Taşklran E., Ütine G. E., et al.

Molecular Syndromology , 2024 (SCI-Expanded)

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features

Akalin A., Grzeschik K., ÜTİNE G. E., Boduroǧlu K., ŞİMŞEK KİPER P. Ö.

Molecular Syndromology , 2024 (SCI-Expanded)

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features

Soǧukplnar M., KARAOSMANOĞLU B., ÜTİNE G. E., Boduroǧlu K., ŞİMŞEK KİPER P. Ö.

Molecular Syndromology , 2024 (SCI-Expanded)

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants

ÜREL DEMİR G., Başer B., GÖÇMEN R., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., Haliloǧlu G.

Molecular Syndromology , 2024 (SCI-Expanded)

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Nayır Büyükşahin H., Emiralioglu N., Simşek Kiper P. Ö., Sunman B., Güzelkaş I., Alboğa D., et al.

Journal of sleep research , vol.32, 2023 (SCI-Expanded)

Assessing the Menstrual Cycle and Related Problems in Adolescents with a Genetic Syndrome Associated with Intellectual Disability

Çınar H. Ü., Kızılkan M. P., AKALIN A., Kiper P. Ö. Ş., ÜTİNE G. E., DERMAN O., et al.

Journal of Pediatric and Adolescent Gynecology , vol.36, no.4, pp.363-371, 2023 (SCI-Expanded)

Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks

GÜLTEKİN ZAİM Ö. B., YALÇIN ÇAKMAKLI G., Çolpak A. İ., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ELİBOL B.

Movement Disorders Clinical Practice , vol.10, no.S3, 2023 (SCI-Expanded)

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

Güleray Lafcl N., KARAOSMANOĞLU B., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E.

Molecular Syndromology , vol.14, no.3, pp.258-265, 2023 (SCI-Expanded)

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of <i>ADAMTSL2</i>-Related Disorders

Batkovskyte D., McKenzie F., Taylan F., ŞİMŞEK KİPER P. Ö., Nikkel S. M., Ohashi H., et al.

JOURNAL OF BONE AND MINERAL RESEARCH , vol.38, no.5, pp.692-706, 2023 (SCI-Expanded) Sustainable Development

Sustainable Development

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients

AKALIN A., Özşin C., KOÇ N., Demir G. Ü., ALANAY Y., Utine E., et al.

European Journal of Medical Genetics , vol.66, no.4, 2023 (SCI-Expanded)

Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature

Demir E., TUNA KIRSAÇLIOĞLU C., SALTIK TEMİZEL İ. N., ÜREL DEMİR G., KARAOSMANOĞLU B., Taşkiran E. Z., et al.

Clinical Dysmorphology , vol.32, no.2, pp.88-91, 2023 (SCI-Expanded)

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

AKALIN A., ŞİMŞEK KİPER P. Ö., Taşkıran E. Z., KARAOSMANOĞLU B., ÜTİNE G. E., BODUROĞLU O. K.

American Journal of Medical Genetics, Part A , vol.191, no.4, pp.1119-1127, 2023 (SCI-Expanded)

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions

AKALIN A., Simsek-Kiper P. O., Taskiran E., ÜTİNE G. E., BODUROĞLU O. K.

MOLECULAR SYNDROMOLOGY , vol.13, no.6, pp.537-542, 2023 (SCI-Expanded)

The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics

DÜZOVA A., AKGÜL S., ÜTİNE G. E., YILDIZ Y.

Turkish Journal of Pediatrics , vol.65, no.1, pp.1-2, 2023 (SCI-Expanded)

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Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3

ŞİMŞEK KİPER P. Ö., Jacob P., Upadhyai P., TAŞKIRAN Z. E., Guleria V. S., KARAOSMANOĞLU B., et al.

HUMAN MUTATION , vol.43, no.12, pp.2116-2129, 2022 (SCI-Expanded)

A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy

Dasar T., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., ÇAĞAN M., ÖZYÜNCÜ Ö., DEREN Ö., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.65, no.12, 2022 (SCI-Expanded)

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

Güleray N., Koşukcu C., Oğuz S., Ürel Demir G., Taşkıran E. Z., Kiper P. Ö. Ş., et al.

CLEFT PALATE-CRANIOFACIAL JOURNAL , vol.59, no.9, pp.1114-1124, 2022 (SCI-Expanded)

Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience

KAHRAMAN A. B., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.188, no.8, pp.2367-2375, 2022 (SCI-Expanded)

Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome

ÜNAL YÜKSEKGÖNÜL A., Azak E., AKALIN A., ERTUĞRUL İ., Kilic E., ÜTİNE G. E., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.65, no.6, 2022 (SCI-Expanded)

Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child

GÜLHAN B., ÜNSAL Y., BALTU D., ÇELİK ERTAŞ N. B., Ozdemir G., Utine E., et al.

BLOOD PRESSURE MONITORING , vol.27, no.3, pp.208-211, 2022 (SCI-Expanded)

More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Dhooge T., Van Damme T., Syx D., Mosquera L. M., Nampoothiri S., Radhakrishnan A., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.30, no.SUPPL 1, pp.156-157, 2022 (SCI-Expanded)

MENSTRUATION RELATED QUALITY OF LIFE IN ADOLESCENTS WITH GENETIC SYNDROMES ACCOMPANYING AN INTELLECTUAL DISABILITY

ÜÇLER ÇINAR H., PEHLİVANTÜRK KIZILKAN M., KANBUR N., DERMAN O., TÜZÜN GÜN Z., ÜTİNE G. E., et al.

JOURNAL OF ADOLESCENT HEALTH , vol.70, no.4, 2022 (SCI-Expanded)

Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

Batkovskyte D., McKenzie F., Taylan F., ŞİMŞEK KİPER P. Ö., Nikkel S. M., Ohashi H., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.30, no.SUPPL 1, pp.41-42, 2022 (SCI-Expanded)

Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?

Hizal M., ŞATIRER Ö., Polat S. E., Tural D. A., Ozsezen B., SUNMAN B., et al.

EUROPEAN JOURNAL OF PEDIATRICS , vol.181, no.2, pp.735-743, 2022 (SCI-Expanded)

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A very rare case of a newborn with tetrasomy 9p and literature review

SÜLEYMAN M., OĞUZ S., KAYKI G., ÇELİK H. T., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.64, no.1, pp.171-178, 2022 (SCI-Expanded)

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Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability

Oguz S., Arslan U. E., Kiper P. O. S., Alikasifoglu M., BODUROĞLU O. K., Utine G. E.

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH , vol.65, no.12, pp.1033-1048, 2021 (SSCI)

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings

SOYER T., KARAOSMANOĞLU B., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., KARNAK İ., BODUROĞLU O. K., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.185, no.11, pp.3427-3432, 2021 (SCI-Expanded)

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

Motta M., Fasano G., Gredy S., Brinkmann J., Bonnard A. A., ŞİMŞEK KİPER P. Ö., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , vol.108, no.11, pp.2112-2129, 2021 (SCI-Expanded)

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Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism

Ozsezen B., EMİRALİOĞLU N., Ozon A., Akin O., Tural D. A., SUNMAN B., et al.

RESPIRATORY MEDICINE , vol.187, 2021 (SCI-Expanded)

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

AKALIN A., ERTUĞRUL İ., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

MOLECULAR SYNDROMOLOGY , vol.12, no.6, pp.335-341, 2021 (SCI-Expanded)

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Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature

AKALIN A., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., Utine E., ALANAY Y., Ozcelik U., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.185, no.10, pp.3104-3110, 2021 (SCI-Expanded)

Kohlschutter-Tonz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., Taskiran E., Schossig A., ÜTİNE G. E., Zschocke J., et al.

JOURNAL OF CHILD NEUROLOGY , vol.36, no.10, pp.816-822, 2021 (SCI-Expanded)

Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families

Kolkiran A., ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E.

EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.64, no.7, 2021 (SCI-Expanded)

Refractory temporal lobe epilepsy in patients with mosaic turner syndrome: two case reports and literature review

ARSLAN D., Utine E., SAYGI S.

NEUROLOGICAL SCIENCES AND NEUROPHYSIOLOGY , vol.38, no.3, pp.194-198, 2021 (SCI-Expanded) Sustainable Development

Sustainable Development

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

KINDIŞ E., ŞİMŞEK KİPER P. Ö., KOŞUKCU C., TAŞKIRAN Z. E., GÖÇMEN R., Utine E., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.185, pp.1888-1896, 2021 (SCI-Expanded)

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

Xue J., Simsek-Kiper P. O., ÜTİNE G. E., Yan L., Wang Z., Taskiran E. Z., et al.

JOURNAL OF HUMAN GENETICS , vol.66, no.6, pp.607-611, 2021 (SCI-Expanded)

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Dhooge T., Van Damme T., Syx D., Mosquera L. M., Nampoothiri S., Radhakrishnan A., et al.

HUMAN MUTATION , vol.42, no.6, pp.711-730, 2021 (SCI-Expanded)

Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability

Taşkıran Z. E., Karaosmanoglu B., Kosukcu C., Urel-Demir G., Akgun-Dogan O., Simsek-Kiper P. O., et al.

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH , vol.65, no.6, pp.577-588, 2021 (SSCI)

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype

ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., Oncel İ. H., ÜTİNE G. E., Haliloglu G., BODUROĞLU O. K.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , pp.46-55, 2021 (SCI-Expanded) Sustainable Development

Sustainable Development

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

ÜREL DEMİR G., Aydin B., KARAOSMANOĞLU B., AKGÜN DOĞAN Ö., Taskiran E. Z., ŞİMŞEK KİPER P. Ö., et al.

MOLECULAR SYNDROMOLOGY , vol.12, no.2, pp.106-111, 2021 (SCI-Expanded)

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Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study

KAYA AKCA Ü., ŞİMŞEK KİPER P. Ö., ÜREL DEMİR G., SAĞ E., ATALAY E., ÜTİNE G. E., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.64, no.4, 2021 (SCI-Expanded)

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The clinical significance ofA2ML1variants in Noonan syndrome has to be reconsidered

Brinkmann J., Lissewski C., Pinna V., Vial Y., Pantaleoni F., Lepri F., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.29, no.3, pp.524-527, 2021 (SCI-Expanded)

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A rare cause of syndromic short stature: 3M syndrome in three families

IŞIK E., ARICAN D., ATİK T., Ooi J. E., DARCAN Ş., ÖZEN S., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.185, no.2, pp.461-468, 2021 (SCI-Expanded)

The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma

KOLKIRAN A., KARAOSMANOĞLU B., TAŞKIRAN Z. E., Kiper P. Ö. Ş., ÜTİNE G. E.

Turkish Journal of Pediatrics , vol.63, no.6, pp.1091-1096, 2021 (SCI-Expanded)

Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome

AYYILDIZ EMECEN D., IŞIK E., ÜTİNE G. E., Simsek-Kiper P. O., ATİK T., Ozkinay F.

MOLECULAR SYNDROMOLOGY , vol.11, pp.296-301, 2020 (SCI-Expanded)

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A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion

ŞİMŞEK KİPER P. Ö., OĞUZ S., ERGEN F. B., ÜTİNE G. E., ALİKAŞİFOĞLU M., Haliloglu G.

NEUROPEDIATRICS , vol.51, no.6, pp.445-449, 2020 (SCI-Expanded)

Molecular etiology of isolated congenital cataract using next-generation sequencing: Single center exome sequencing data from Turkey

Taylan Şekeroğlu H., Karaosmanoğlu B., Taşkıran E. Z., Şimşek Kiper P. Ö., Alikaşifoğlu M., Boduroğlu O. K., et al.

Molecular Syndromology , vol.11, pp.302-308, 2020 (SCI-Expanded)

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Novel insights into diabetes mellitus due toDNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group

ÖZÖN Z. A., ALİKAŞİFOĞLU A., KANDEMİR N., Aydin B., GÖNÇ E. N., KARAOSMANOĞLU B., et al.

PEDIATRIC DIABETES , vol.21, no.7, pp.1176-1182, 2020 (SCI-Expanded)

Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis

AKDOĞAN N., KINDIŞ E., BOSTAN E., Utine E., ALİKAŞİFOĞLU M., ERSOY EVANS S.

JOURNAL OF CLINICAL IMMUNOLOGY , vol.40, no.6, pp.934-939, 2020 (SCI-Expanded)

Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children

Dogru D., Polat S. E., Tan Ç., Tezcan İ., Yalçın S. S., Utine E., et al.

PEDIATRIC PULMONOLOGY , vol.55, no.5, pp.1190-1198, 2020 (SCI-Expanded) Sustainable Development

Sustainable Development

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

YALICI ARMAĞAN B., Kabacam S., TAŞKIRAN Z. E., GÖKÖZ Ö., ÜTİNE G. E., ERSOY EVANS S.

PEDIATRIC DERMATOLOGY , vol.37, no.2, pp.358-361, 2020 (SCI-Expanded)

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

Buers I., Persico I., Schoening L., Nitschke Y., Di Rocco M., Loi A., et al.

CLINICAL GENETICS , vol.97, no.1, pp.209-221, 2020 (SCI-Expanded)

Peters Plus syndrome: a recognizable clinical entity

ÜREL DEMİR G., Lafci N., Dogan O. A., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E.

TURKISH JOURNAL OF PEDIATRICS , vol.62, no.1, pp.136-140, 2020 (SCI-Expanded)

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Intrafamilial variability of XYLT2-related spondyloocular syndrome

Guleray N., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., Boduroglu K., ALİKAŞİFOĞLU M.

European Journal of Medical Genetics , vol.62, no.11, 2019 (SCI-Expanded)

Spondyloocular syndrome: Presentation of two siblings diagnosed with the rare disease and the results of Pamidronate Therapy

VURALLI KARAOĞLAN D., ŞİMŞEK KİPER P. Ö., Utine E., ÜNSAL Y., ALİKAŞİFOĞLU A., KANDEMİR N.

HORMONE RESEARCH IN PAEDIATRICS , vol.91, pp.387, 2019 (SCI-Expanded)

A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17

ŞENDUR S. N., OĞUZ S., ÜTİNE G. E., DAĞDELEN S., Oguz K. K., Erbas T., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.62, no.8, 2019 (SCI-Expanded) Sustainable Development

Sustainable Development

Ophthalmo-acromelic syndrome in an infant

ÜREL DEMİR G., Taskiran E. Z., AKGÜN DOĞAN Ö., Simek-Kiper P. O., ÜTİNE G. E.

EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.62, no.7, 2019 (SCI-Expanded)

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome

Simsek-Kiper P. O., Taskiran E., KOŞUKCU C., ARSLAN U. E., Cormier-Daire V., Gonc N., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.179, no.7, pp.1157-1172, 2019 (SCI-Expanded)

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

van der Sluijs P. J., Jansen S., Vergano S. A., Adachi-Fukuda M., ALANAY Y., AlKindy A., et al.

GENETICS IN MEDICINE , vol.21, no.6, pp.1295-1307, 2019 (SCI-Expanded)

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An eight-case 1q21 region series: novel aberrations and clinical variability with new features

CEYLAN A., ŞAHİN İ. F., Erdem H., Kayhan G., Simsek-Kiper P., ÜTİNE G. E., et al.

Journal of Intellectual Disability Research , vol.63, no.6, pp.548-557, 2019 (SSCI)

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate

Simsek-Kiper P. O., KOŞUKCU C., Akgun-Dogan O., GÖÇMEN R., ÜTİNE G. E., SOYER T., et al.

European Journal of Medical Genetics , vol.62, no.1, pp.21-26, 2019 (SCI-Expanded)

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center

KAYKI G., Gucer S., AKÇÖREN Z., ORHAN D., TALİM B., YURDAKÖK M., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.60, no.5, pp.471-477, 2018 (SCI-Expanded)

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Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

Dogan O. A., Demir G. U., Arslan U. E., Simsek-Kiper P. O., ÜTİNE G. E., ALİKAŞİFOĞLU M., et al.

American Journal of Perinatology , vol.35, no.5, pp.427-433, 2018 (SCI-Expanded)

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

ÜTİNE G. E., Simsek-Kiper P. O., Akgun-Dogan O., Urel-Demir G., Alanay Y., AKTAŞ D., et al.

European Journal of Obstetrics and Gynecology and Reproductive Biology , vol.221, pp.76-80, 2018 (SCI-Expanded)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

VURALLI KARAOĞLAN D., KOŞUKCU C., Taskiran E., Simsek P. O., ÜTİNE G. E., BODUROĞLU O. K., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.363, 2018 (SCI-Expanded)

Clinical, demographic and nosologic characterisation of the genetic disorders of the skeleton in Turkey: The Skeletal Dysplasia registry

ŞİMŞEK KİPER P. Ö., Utine G. E., TAŞKIRAN Z. E., KOŞUKCU C., ALANAY Y., ALİKAŞİFOĞLU M., et al.

European Journal Of Human Genetics , 2018 (SCI-Expanded)

Clinical and molecular evaluation of 16 patients with rett syndrome

Zengin-Akkuş P., Taşkıran E. Z., Kabaçam S., Şimşek-Kiper P. Ö., Haliloğlu G., Boduroğlu K., et al.

Turkish Journal of Pediatrics , vol.60, no.1, pp.1-9, 2018 (SCI-Expanded)

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Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome

Bilgin B., Kabaçam S., Taşkıran E., Şimşek-Kiper P. Ö., Alanay Y., Boduroğlu K., et al.

Turkish Journal of Pediatrics , vol.60, no.5, pp.506-513, 2018 (SCI-Expanded)

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Anauxetic dysplasia: A rare clinical entity

Akgün-Doğan Ö., Şimsek-Kiper P. Ö., ÜTİNE G. E., Boduroğlu K.

Turkish Journal of Pediatrics , vol.60, no.1, pp.89-93, 2018 (SCI-Expanded)

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Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development

Demir G. U., Dogan O. A., Kiper P. O. S., ÜTİNE G. E., Boduroglu K., Gucer S., et al.

Fetal and Pediatric Pathology , vol.36, no.6, pp.445-451, 2017 (SCI-Expanded)

Partial Trisomy 18 From a marker chromosome to a rare chromosomal disorder

OĞUZ S., GÜLERAY N., DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.

MOLECULAR CYTOGENETICS , vol.10, 2017 (SCI-Expanded)

HERC1 mutations in idiopathic intellectual disability

ÜTİNE G. E., Taskiran E. Z., KOŞUKCU C., KARAOSMANOĞLU B., GÜLERAY N., Dogan O. A., et al.

European Journal of Medical Genetics , vol.60, no.5, pp.279-283, 2017 (SCI-Expanded)

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

Koehler K., Milev M. P., Prematilake K., Reschke F., Kutzner S., Juehlen R., et al.

JOURNAL OF MEDICAL GENETICS , vol.54, no.3, pp.176-185, 2017 (SCI-Expanded)

Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome

Hizarcioglu-Gulsen H., KILIÇ E., Dominguez-Garrido E., Aydemir Y., ÜTİNE G. E., Saltik-Temizel I. N.

TURKISH JOURNAL OF PEDIATRICS , vol.59, no.1, pp.80-83, 2017 (SCI-Expanded)

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A Turkish BCS1L mutation causes GRACILE-like disorder

Serdaroglu E., Takci S., Kotarsky H., ÇİL O., Utine E., YİĞİT Ş., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.58, no.6, pp.658-661, 2016 (SCI-Expanded)

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Congenital multisegmental lymphatic dysplasia with systemic involvement: a case report

Kaymak S., KULOĞLU Z., Cobanoglu N., ÜTİNE G. E., Kansu A.

CLINICAL DYSMORPHOLOGY , vol.25, no.4, pp.174-177, 2016 (SCI-Expanded)

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Angius A., Uva P., Buers I., Oppo M., Puddu A., Onano S., et al.

American Journal of Human Genetics , vol.99, no.1, pp.236-245, 2016 (SCI-Expanded)

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Congenital Mirror Movements in Gorlin Syndrome: A Case Report With DTI and Functional MRI Features

SAĞ E., GÖÇMEN R., YILDIZ F., Ozturk Z., Temucin Ç. M., TEKŞAM Ö., et al.

PEDIATRICS , vol.137, no.3, 2016 (SCI-Expanded)

A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome

Kılıç E., Cetinkaya A., Ütine G. E., Boduroǧlu K.

Journal of Child Neurology , vol.31, no.7, pp.913-917, 2016 (SCI-Expanded)

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Experience of a Skeletal Dysplasia Registry in Turkey: A Five-Years Retrospective Analysis

Kurt-Sukur E. D., Simsek-Kiper P. O., ÜTİNE G. E., Boduroglu K., Alanay Y.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , no.9, pp.2065-2074, 2015 (SCI-Expanded) Sustainable Development

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Two patients with microdeletion and microduplication involving 1q21.1

CEYLAN A. C., ÜTİNE G. E., ALİKAŞİFOĞLU M., BODUROĞLU O. K.

CHROMOSOME RESEARCH , vol.23, 2015 (SCI-Expanded)

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Bramswig N. C., Luedecke H., Alanay Y., Albrecht B., Barthelmie A., Boduroglu K., et al.

Human Genetics , vol.134, no.6, pp.553-568, 2015 (SCI-Expanded)

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

Kılıç E., Yigit G., ÜTİNE G. E., Wollnik B., MIHÇI E., Nur B. G., et al.

American Journal of Medical Genetics, Part A , vol.167, no.4, pp.919-921, 2015 (SCI-Expanded)

Partial distal aphalangia, duplication of metatarsal IV, microcephaly, and borderline intelligence: A fourth patient with parental consanguinity and additional feature of massive cerebral thrombosis

ÖZSÜREKCİ Y., KÖMÜRLÜOĞLU A., Aytac Ş. S., Oguz K. K., Utine E., CEYHAN M.

Clinical Dysmorphology , vol.24, no.1, pp.29-33, 2015 (SCI-Expanded)

A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma

Tarlan B., Kiratli H., Kılıç E., Utine E., Boduroğlu K.

Ophthalmic genetics , vol.35, no.4, pp.248-251, 2014 (SCI-Expanded)

Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease

Naot D., Choi A., Musson D. S., Kiper P. O. S., ÜTİNE G. E., Boduroglu K., et al.

BONE , vol.68, pp.6-10, 2014 (SCI-Expanded)

Wildervanck syndrome: An uncommon cause of Duane syndrome

Sekeroglu H. T., Simsek-Kiper P. O., ÜTİNE G. E., Boduroglu K., Sanac A. S., Sener E. C.

JOURNAL FRANCAIS D OPHTALMOLOGIE , vol.37, no.8, 2014 (SCI-Expanded)

Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report

Sahin Y., Kiper P. O., Alanay Y., Liehr T., ÜTİNE G. E., Boduroglu K.

CLINICAL DYSMORPHOLOGY , vol.23, no.4, pp.147-151, 2014 (SCI-Expanded)

Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene

KILIÇ E., ERTUĞRUL İ., Ozer S., ALİKAŞİFOĞLU M., Aktas D., Boduroglu K., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.56, no.5, pp.542-545, 2014 (SCI-Expanded)

A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings

KILIÇ E., KILIÇ M., ÜTİNE G. E., Sivri S., COŞKUN T., ALANAY Y.

TURKISH JOURNAL OF PEDIATRICS , vol.56, no.4, pp.430-433, 2014 (SCI-Expanded)

Prenatal diagnosis in a fetus with de-novo 20q11.2q13.1 deletion and review of the literature

Turgal M., ÖZYÜNCÜ Ö., ÜTİNE G. E., KILIÇ E., Boduroglu K.

CLINICAL DYSMORPHOLOGY , vol.23, no.3, pp.111-113, 2014 (SCI-Expanded)

Etiological yield of SNP microarrays in idiopathic intellectual disability

Ütine G. E., Halıloglu G., Volkan-Salancı B., Cetinkaya A., Kıper P. O., Alanay Y., et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , vol.18, no.3, pp.327-337, 2014 (SCI-Expanded)

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Celiac disease in Williams-Beuren syndrome

Simsek-Kiper P. O., Sahin Y., Arslan U., Alanay Y., Boduroglu K., ORHAN D., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.56, no.2, pp.154-159, 2014 (SCI-Expanded)

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

ALANAY Y., BEKİR E., ÜTİNE G. E., ORÇUN H., ŞİMŞEK KİPER P. Ö., TAŞKIRAN E. Z., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.164, no.2, pp.291-304, 2014 (SCI-Expanded)

Striking Hematological Abnormalities in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): A Potential Role of Pericentrin in Hematopoiesis

ÜNAL Ş., Alanay Y., ÇETİN M., Boduroglu K., Utine E., CORMİER-DAİRE V., et al.

PEDIATRIC BLOOD & CANCER , vol.61, no.2, pp.302-305, 2014 (SCI-Expanded)

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation

Simsek-Kiper P. O., Dikoglu E., Campos-Xavier B., ÜTİNE G. E., Bonafe L., Unger S., et al.

American Journal of Medical Genetics, Part A , vol.164, no.10, pp.2667-2671, 2014 (SCI-Expanded)

Neurochemical Evaluation of Brain Function With H-1 Magnetic Resonance Spectroscopy in Patients With Fragile X Syndrome

ÜTİNE G. E., Akpinar B., ARSLAN U. E., Kiper P. O. S., Volkan-Salanci B., Alanay Y., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.164, no.1, pp.99-105, 2014 (SCI-Expanded)

Barraquer-Simons syndrome: A rare clinical entity

Simsek-Kiper P. O., Roach E., ÜTİNE G. E., Boduroglu K.

American Journal of Medical Genetics, Part A , vol.164, no.7, pp.1756-1760, 2014 (SCI-Expanded)

PARENTAL FACTORS IN PRENATAL DECISION MAKING AND THE IMPACT OF PRENATAL GENETIC COUNSELING: A STUDY ON TURKISH FAMILIES

Simsek-Kiper P. O., ÜTİNE G. E., Volkan-Salanci B., Alanay Y., Aktas D., ALİKAŞİFOĞLU M., et al.

GENETIC COUNSELING , vol.25, no.1, pp.53-62, 2014 (SCI-Expanded)

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism

Şimşek-Kiper P. Ö., Bayram Y., ÜTİNE G. E., Alanay Y., Boduroǧlu K.

Turkish Journal of Pediatrics , vol.56, no.1, pp.80-84, 2014 (SCI-Expanded)

Homozygosity for a Novel Truncating Mutation Confirms TBX15 Deficiency as the Cause of Cousin Syndrome

Dikoglu E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., Campos-Xavier B., BODUROĞLU O. K., Bonafe L., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.161, no.12, pp.3161-3165, 2013 (SCI-Expanded)

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Wieczorek D., Boegershausen N., Beleggia F., Steiner-Haldenstaett S., Pohl E., Li Y., et al.

HUMAN MOLECULAR GENETICS , vol.22, no.25, pp.5121-5135, 2013 (SCI-Expanded)

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Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

Iida A., ŞİMŞEK KİPER P. Ö., Mizumoto S., Hoshino T., Elcioglu N., Horemuzova E., et al.

HUMAN MUTATION , vol.34, no.10, pp.1381-1386, 2013 (SCI-Expanded)

A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

Ütine G. E., Haliloglu G., Volkan Salancı B., Çetinkaya A., Şimşek Kiper P. Ö., Alanay Y., et al.

JOURNAL OF CHILD NEUROLOGY , vol.28, no.7, pp.926-932, 2013 (SCI-Expanded)

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Deletion of GNAS in a girl presenting with severe pre- and post-natal growth retardation, developmental delay and facial dysmorphism

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

CHROMOSOME RESEARCH , vol.21, 2013 (SCI-Expanded)

Microdeletions at 1q21.1 and 2q24.2 in a Patient with Developmental Delay and Dysmorphic Features

ÜTİNE G. E., ŞİMŞEK KİPER P. Ö., ALANAY Y., BODUROĞLU O. K.

CHROMOSOME RESEARCH , vol.21, 2013 (SCI-Expanded)

A Case of 13q22. 2 q33. 3 Deletion

KILIÇ E., ÜTİNE G. E., Alikagsifoglu M., BODUROĞLU O. K.

CHROMOSOME RESEARCH , vol.21, 2013 (SCI-Expanded)

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings

KILIÇ E., ÜTİNE G. E., Boduroglu K.

TURKISH JOURNAL OF PEDIATRICS , vol.55, no.2, pp.207-209, 2013 (SCI-Expanded)

Clinical and molecular analysis of RASopathies in a group of Turkish patients

Simsek-Kiper P. O., ALANAY Y., GÜLHAN B., Lissewski C., Turkyilmaz D., ALEHAN D., et al.

CLINICAL GENETICS , vol.83, no.2, pp.181-186, 2013 (SCI-Expanded)

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

Segarra N. G., Mittaz L., Campos-Xavier A. B., Bartels C. F., Tuysuz B., ALANAY Y., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS , no.3, pp.217-229, 2012 (SCI-Expanded)

Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly

Takci S., Korkmaz A., Simsek-Kiper P. O., ÜTİNE G. E., BODUROĞLU O. K., YURDAKÖK M.

TURKISH JOURNAL OF PEDIATRICS , vol.54, no.4, pp.440-443, 2012 (SCI-Expanded) Sustainable Development

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Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene

KILIÇ E., ALANAY Y., Utine E., ÖZGEN MOCAN B., Robinson P. N., BODUROĞLU O. K.

TURKISH JOURNAL OF PEDIATRICS , vol.54, no.2, pp.198-202, 2012 (SCI-Expanded)

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Lines M. A., Huang L., Schwartzentruber J., Douglas S. L., Lynch D. C., Beaulieu C., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , vol.90, no.2, pp.369-377, 2012 (SCI-Expanded)

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A newborn with overlapping features of AEC and EEC syndromes

Celik T. H., Buyukcam A., Simsek-Kiper P. O., ÜTİNE G. E., Ersoy-Evans S., Korkmaz A., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , no.12, pp.3100-3103, 2011 (SCI-Expanded)

A mutation screen in patients with Kabuki syndrome

Li Y., Boegershausen N., ALANAY Y., ŞİMŞEK KİPER P. Ö., Plume N., Keupp K., et al.

HUMAN GENETICS , vol.130, no.6, pp.715-724, 2011 (SCI-Expanded)

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K.

TURKISH JOURNAL OF PEDIATRICS , vol.53, no.5, pp.558-560, 2011 (SCI-Expanded)

Catel-Manzke Syndrome: A Clinical Report Suggesting Autosomal Recessive Inheritance

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALANAY Y.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , no.9, pp.2288-2292, 2011 (SCI-Expanded)

Rapid prenatal diagnosis of common aneuploidies by QF-PCR in the Turkish population

Aktas D., Kutukcu B., Bayram Y., ÜTİNE G. E., ALANAY Y., ÖZYÜNCÜ Ö., et al.

CHROMOSOME RESEARCH , vol.19, 2011 (SCI-Expanded)

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Putoux A., Thomas S., Coene K. L. M., Davis E. E., Alanay Y., Ogur G., et al.

NATURE GENETICS , vol.43, no.6, pp.601-607, 2011 (SCI-Expanded)

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A case of deletion of 4q and duplication of 10q presenting with tetralogy of Fallot, developmental delay and facial dysmorphism

Simsek P. O., ÜTİNE G. E., BODUROĞLU O. K.

CHROMOSOME RESEARCH , vol.19, 2011 (SCI-Expanded)

A patient with a duplication of 16q and a deletion of 3p presenting with coloboma and buphthalmos

BODUROĞLU O. K., Simsek P. O., ÜTİNE G. E.

CHROMOSOME RESEARCH , vol.19, 2011 (SCI-Expanded)

Successful Ocreotide and Medium-Chain Triglyceride Therapy for Cylothorax in a Patient with Noonan Syndrome: Case Report

BEDER S., Ersoy Z. G., Gullu E., ÜTİNE G. E., KAYACAN O., KARNAK D.

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI , vol.30, no.4, pp.1402-1405, 2010 (SCI-Expanded)

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TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosis

Kiper N., Gerceker F., Utine E., Yalcin E., Pekcan S., Cobanoglu N., et al.

PARASITOLOGY INTERNATIONAL , vol.59, no.2, pp.283-285, 2010 (SCI-Expanded)

Cowden syndrome with bronchial asthma

ÖZSÜREKCİ Y., Yavuz S. T., ALANAY Y., ÜTİNE G. E., Kalayci O.

TURKISH JOURNAL OF PEDIATRICS , vol.52, no.3, pp.330-332, 2010 (SCI-Expanded)

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Alanay Y., Avaygan H., Camacho N., ÜTİNE G. E., Boduroglu K., Aktas D., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , vol.86, no.4, pp.551-559, 2010 (SCI-Expanded)

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A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis

ÜTİNE G. E., Breckpot J., Thienpont B., ALANAY Y., Aksoy C., BODUROĞLU O. K., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , no.4, pp.947-949, 2010 (SCI-Expanded)

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Cullinane A. R., Straatman-Iwanowska A., Zaucker A., Wakabayashi Y., Bruce C. K., Luo G., et al.

NATURE GENETICS , vol.42, no.4, pp.303-315, 2010 (SCI-Expanded)

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Partial Distal Aphalangia, Duplication of Metatarsal IV, Microcephaly and Borderline Intelligence: A Third Patient Suggesting Autosomal Recessive Inheritance

ÜTİNE G. E., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , no.6, pp.1317-1318, 2009 (SCI-Expanded)

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes

Simsek P. O., ÜTİNE G. E., ALİKAŞİFOĞLU A., ALANAY Y., BODUROĞLU O. K., Kandemir N.

TURKISH JOURNAL OF PEDIATRICS , vol.51, no.3, pp.294-297, 2009 (SCI-Expanded)

PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality

Bornholdt D., Oeffner F., Koenig A., Happle R., ALANAY Y., Ascherman J., et al.

HUMAN MUTATION , vol.30, no.5, 2009 (SCI-Expanded)

Pediatric pleural effusions: etiological evaluation in 492 patients over 29 years

ÜTİNE G. E., Ozcelik U., Kiper N., DOĞRU ERSÖZ D., Yalcin E., Cobanoglu N., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.51, no.3, pp.214-219, 2009 (SCI-Expanded)

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients

ÜTİNE G. E., Celik T., ALANAY Y., ALİKAŞİFOĞLU M., BODUROĞLU O. K., Tuncbilek E., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.51, no.3, pp.199-206, 2009 (SCI-Expanded)

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Aktas D., Weise A., Utine E., ALEHAN D., Mrasek K., von Eggeling F., et al.

MOLECULAR CYTOGENETICS , vol.2, 2009 (SCI-Expanded)

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Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome

Erdogan M. K., ÜTİNE G. E., ALANAY Y., Aktas D.

CLINICAL DYSMORPHOLOGY , vol.17, no.4, pp.289-290, 2008 (SCI-Expanded)

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance

ÜTİNE G. E., ALANAY Y., Aktas D., TALİM B., Kale G., Tuncbilek E.

TURKISH JOURNAL OF PEDIATRICS , vol.50, no.3, pp.287-290, 2008 (SCI-Expanded)

Pleural fluid PCR method for detection of Staphylococcus aureus, Streptococcus pneumoniae and Haemophilus influenzae in pediatric parapneumonic effusions

ÜTİNE G. E., PINAR A., Ozcelik U., ŞENER B., Yalcin E., DOĞRU ERSÖZ D., et al.

RESPIRATION , vol.75, no.4, pp.437-442, 2008 (SCI-Expanded)

Cerebro-facio-thoracic dysplasia: expanding the phenotype

Cilliers D., ALANAY Y., BODUROĞLU O. K., Utine E., Tuncbilek E., Clayton-Smith J.

CLINICAL DYSMORPHOLOGY , vol.16, no.2, pp.121-125, 2007 (SCI-Expanded)

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

ALANAY Y., Utine G. E., Lachman R. S., Krakow D., Tuncbilek E.

PEDIATRIC RADIOLOGY , vol.36, no.9, pp.970-973, 2006 (SCI-Expanded)

Articles Published in Other Journals

Relationship between the Common Variants of the ADAM19, FAM13A, and IREB2 Genes and COPD Susceptibility and Severity

Senel M. Y., Kabacam S., KAŞIKCI ÇAVDAR M., Onder B. S., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

INDIAN JOURNAL OF RESPIRATORY CARE , no.2, pp.83-90, 2024 (ESCI)

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Clinical Evaluation of the Five Patients with Mosaic Trisomy 8 Syndrome: Case Series

DAŞAR T. N., Soğukpınar M., Simsek-Kiper P. O., UTİNE G. E., BODUROĞLU O. K.

Türkiye Klinikleri Pediatri Dergisi , vol.32, no.2, pp.91-95, 2023 (Scopus)

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A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

Dasar T., Donkervoort S., ŞİMŞEK KİPER P. Ö., GÖÇMEN R., ÜTİNE G. E., BODUROĞLU O. K., et al.

JOURNAL OF PEDIATRIC RESEARCH , vol.9, no.3, pp.297-301, 2022 (ESCI)

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Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report

Sahin E. A., Taskiran E. Z., ŞİMŞEK KİPER P. Ö., Aydin B., Utine E.

JOURNAL OF MEDICAL CASE REPORTS , vol.16, no.1, 2022 (ESCI)

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Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review

Güvenoğlu M., Şimşek-Kiper P. Ö., Koşukcu C., Taskiran E. Z., Saltık-Temizel İ. N., Gucer S., et al.

Pediatric Gastroenterology, Hepatology and Nutrition , vol.25, no.6, pp.441-452, 2022 (ESCI)

Surgical reconstruction of abnormally located penis in urorectal septum malformation sequence: report of a case

SOYER T., Büyükyılmaz G., ÇALIŞ M., Kiper Ö. P. Ş., ÖZYÜKSEL G., BOYBEYİ TÜRER Ö., et al.

European Journal of Plastic Surgery , vol.44, no.5, pp.709-712, 2021 (ESCI) Sustainable Development

Sustainable Development

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

TAYLAN ŞEKEROĞLU H., ÜTİNE G. E.

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY , vol.51, no.2, pp.107-113, 2021 (ESCI)

Psychometric and Psychosocial Evaluation of Adolescents with Turner Syndrome in a Multidisiplinary Approach: A Preliminary Study Turner Sendromlu Ergenlerin Multidisipliner Yaklaşımla Psikometrik ve Psikososyal Açıdan Değerlendirilmesi: Ön Çalışma

Karakök B., AKDEMİR D., YALÇIN S. S., ÖZUSTA H. Ş., ÜTİNE G. E., Doğan Ö., et al.

Guncel Pediatri , vol.19, no.3, pp.363-372, 2021 (ESCI)

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Stuve-Wiedemann Syndrome: A Rare Clinical Entity

ÜREL DEMİR G., Ozlem P., Kiper S., ÜTİNE G. E.

GAZI MEDICAL JOURNAL , vol.31, no.4, pp.642-644, 2020 (ESCI)

Achondroplasiaand Down SyndromeIn An Infant: A RareCo-Occurrence

ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., GÖÇMEN R., ÜTİNE G. E., BODUROĞLU O. K.

Asia Pacific Journal of Pediatric and Child Health , 2020 (Scopus)

Akondroplazide baba yaşı: İleri baba yaşı kaçtır?

ATAR S., ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

Çocuk Sağlığı ve Hastalıkları , vol.62, no.62, pp.7-9, 2019 (Scopus)

Fragile X Syndrome: A Genetic Disorder to Consider in Patients with Speech Delay

ÇELEN YOLDAŞ T., ÜTİNE G. E., ÖZMERT E. N., BODUROĞLU O. K.

Türkiye Çocuk Hastalıkları Dergisi , vol.12, no.4, pp.289-292, 2018 (Peer-Reviewed Journal)

3M Sendromu

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

Çocuk Sağlığı ve Hastalıkları Dergisi , 2017 (Scopus)

Gorlin Syndrome in Eleven Patients

ÜTİNE G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., ALİKAŞİFOĞLU M., TUNÇBİLEK E.

JOURNAL OF PEDIATRIC RESEARCH , vol.4, no.2, pp.63-67, 2017 (ESCI)

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Sustainable Development

A diagnosis to consider in an adult patient with facial features and intellectual disability: Williams syndrome

Dogan O. A., Kiper P. O. S., ÜTİNE G. E., ALİKAŞİFOĞLU M., Boduroglu K.

Korean Journal of Family Medicine , vol.38, no.2, pp.102-105, 2017 (Scopus)

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3M syndrome 3M sendromu

Kiper P. Ö. Ş., ÜTİNE G. E., Boduroǧlu K.

Cocuk Sagligi ve Hastaliklari Dergisi , vol.60, no.2, pp.56-63, 2017 (Scopus)

Noonan sendromunda göz bulguları: İki olgu ve literatürün gözden geçirilmesi

TAYLAN ŞEKEROĞLU H., ERKAN TURAN K., ŞİMŞEK KİPER P. Ö., ÇOLAK D., Utine G. E., BODUROĞLU O. K.

Glokom-Katarakt , vol.12, pp.229-232, 2017 (Peer-Reviewed Journal)

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective

TAYLAN ŞEKEROĞLU H., ÜTİNE G. E., ALİKAŞİFOĞLU M.

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY , vol.46, no.6, pp.299-300, 2016 (ESCI)

Monogenik diyabet

AKGÜN DOĞAN Ö., ÜTİNE G. E., ALİKAŞİFOĞLU A.

COCUK SAGLIGI VE HASTALIKLARI DERGISI , vol.59, no.3, pp.140-151, 2016 (Scopus)

Rett sendromu

ZENGİN AKKUŞ P., UTİNE G. E.

Çocuk Sağlığı ve Hastalıkları Dergisi , vol.59, no.2, pp.76-85, 2016 (Scopus)

An Adult Patient with Monosomy 18p Growth Hormone Deficiency and Selective IgA Deficiency

ZENGİN AKKUŞ P., çetinkaya a., ÇAĞDAŞ AYVAZ D. N., ALİKAŞİFOĞLU M., ALİKAŞİFOĞLU A., KANDEMİR N., et al.

Journal of Genetic Syndromes & Gene Therapy , vol.7, no.2, 2016 (Peer-Reviewed Journal)

1p36 Microdeletion Syndrome: A Case Report

ZENGİN AKKUŞ P., ŞAHİN Y., UTİNE G. E., BODUROĞLU O. K.

Acta Medica , vol.45, no.1, pp.26-28, 2014 (Peer-Reviewed Journal)

Rizomelik kondrodisplazi punktata: Bir vaka takdimi

ZENGİN AKKUŞ P., TAKCI Ş., UTİNE G. E., SİVRİ H. S., YURDAKÖK M.

Çocuk Sağlığı ve Hastalıkları Dergisi , vol.56, no.4, pp.188-191, 2013 (Scopus)

Genetics in Ophthalmology II-Anterior Segment Diseases

Utine C. A., ÜTİNE G. E.

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY , vol.42, no.5, pp.378-385, 2012 (ESCI) Sustainable Development

Sustainable Development

Genetics in Ophthalmology I - Basic Concepts

Utine C. A., ÜTİNE G. E.

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY , vol.42, no.5, pp.370-377, 2012 (ESCI) Sustainable Development

Sustainable Development

Genetics in Ophthalmology III - Posterior Segment Diseases

Utine C. A., Utine G. E.

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY , vol.42, no.5, pp.386-392, 2012 (ESCI) Sustainable Development

Sustainable Development

Refereed Congress / Symposium Publications in Proceedings

Neuroimaging features of MOPDII in ten patients with PCNT mutation: A Tertiary Centre Experience

AKALIN A., GÖÇMEN R., Simsek-Kiper P., TAŞKIRAN Z. E., ALANAY Y., HALİLOĞLU V. G., et al.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, England, 10 - 13 June 2023, pp.408-409 Sustainable Development

Sustainable Development

A Novel ZBTB20 Variant In A Patient With Primrose syndrome: A rare clinical entity

SOĞUKPINAR M., KARAOSMANOĞLU B., ÜTİNE G. E., Boduroglu K., Simsek-Kiper P.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, England, 10 - 13 June 2023, pp.185

Zihinsel Yetersizlik ve Dismorfik Bulgular ile Başvuran Yeni Nesil Dizi Analizi ile Tanı Alan 5 Nadir Sendrom

Soğukpınar M., KARAOSMANOĞLU B., TAŞKIRAN Z. E., ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

6. Ulusal Çocuk Genetik Kongresi, 09 November 2023

Allel-Spesifik Anti-Sense Oligonükleotidler: Kalıtsal Retina Hastalıklarında ‘’Ince Ayar’’ Tedavi Mümkün Olabilir Mi?

Karaosmanoğlu B., İmren G., Ütine G. E., Taylan-Şekeroğlu H., Taşkıran Z. E.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022

The Genetics of Achalasia

21. PAAFIS, Ankara, Turkey, 25 September 2021

RSPRY1 İlişkili Spondiloepimetafizyel Displazide Transkriptomik Yaklaşım

Karaosmanoğlu B., Taşkıran Z. E., Kiper Şimşek P. Ö., Ütine G. E.

XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Turkey, 30 October 2020

Çocuklarda romatizmal bulgularla gelen genetik hastalıklar

KAYA AKCA Ü., Bilginer Y., Özen S., Sag E., UTİNE G. E., BODUROĞLU O. K., et al.

20. ULUSAL ROMATOLOJİ KONGRESİ, Turkey, 16 - 20 October 2019

The Skeletal Dysplasia Registry: Hacettepe Experience

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., ÜTİNE G. E., ALANAY Y., et al.

The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norway, 11 - 14 September 2019

Spondyloocular syndrome: Presentation of two siblings diagnosed with the rare disease and the results of Pamidronate Therapy

VURALLI KARAOĞLAN D., ŞİMŞEK KİPER P. Ö., UTİNE G. E., ÜNSAL Y., ALİKAŞİFOĞLU A., KANDEMİR N.

The 58th Annual ESPE Meeting, VİYANA, Austria, 19 - 21 September 2019, vol.91, pp.387

A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

VURALLI KARAOĞLAN D., KOŞUKCU C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., UTİNE G. E., BODUROĞLU O. K., et al.

57th Annual ESPE European Society for Paediatric Endocrinology, Atina, Greece, 27 - 29 September 2018, vol.90, pp.351-352

IGF1 Receptor Deletion is a Rare Cause of Prenatal Onset Short Stature.

GÖNÇ E. N., ÖZÖN Z. A., Kabaçam S., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALİKAŞİFOĞLU A., et al.

International Congress of the Growth Hormone Research IGF Societies, Sep 14 - 17, 2018, Seattle, Washington, United States of America., 14 - 17 September 2018

Expanding the clinical and mutational spectrum of Roberts syndrome with previously unreported endoctrine findings.

GÜLERAY N., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALİKAŞİFOĞLU M.

European Human Genetics Conference, 16 - 19 June 2018

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome in a large family: A clinical condition with a diagnostic challenge.

OĞUZ S., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALANAY Y., ÖZEN S., BODUROĞLU O. K., et al.

European Human Genetics Conference, 16 - 19 June 2018

Clinical, demographic and nosologic characterization of the genetic disorders of the skeleton in Turkey: The skeletal dysplasia registry.

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., ALANAY Y., et al.

European Human Genetics Conference, Milan, Italy, June 16-19, 2018., Milan, Italy, 16 - 19 June 2018

Lenfödemde Güncel Genetik

III.Lenfödem Sempozyumu, Ankara, Turkey, 21 December 2017

Voxel-Based Morphometry (VBM) and Tract-Based Spatial Statistics-Diffusion Tensor Imaging (TBSS-DTI) in Rett Syndrome: Alterations in Visuomotor Areas and Limbic System

OMAY B., HAS A. C., AKKUŞ P. Z., TURK G., KARAGÖZ A. H., UTİNE E., et al.

Radiology Society of North America yıllık toplantısı, 26 November - 01 December 2017

Dismorfolojik İpuçları

XXIII. Prof.Dr.Lütfü Tat Sempozyumu, Ankara, Turkey, 22 - 26 November 2017

Genetics of Autism Spectrum Disorders

2. Kosovo-Turkish Pediatric Congress, Antalya, Turkey, 16 November 2017

Rett sendromlu 16 hastanın klinik ve moleküler açıdan değerlendirilmesi

ZENGİN AKKUŞ P., TAŞKIRAN Z. E., KABAÇAM S., ŞİMŞEK KİPER P. Ö., HALİLOĞLU V. G., BODUROĞLU O. K., et al.

61. Türkiye Milli Pediatri Kongresi, Antalya, Turkey, 15 - 19 November 2017

Nonsendromik Hastalarda Otizm

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Oftalmo-akromelik sendrom

ÜREL DEMİR G., TAŞKIRAN Z. E., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

PGAP3 geninde yeni tanımlanmış mutasyona bağlı hiperfosfatazya mental retardasyon sendromu

AKGÜN DOĞAN Ö., ÜREL DEMİR G., KOŞUKCU C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Oküloaurikülovertebral spektrumda 5p delesyonu

ÜREL DEMİR G., OĞUZ S., GÜLERAY N., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Camurati-Engelmann hastalığı

OĞUZ S., ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALİKAŞİFOĞLU M., BODUROĞLU O. K.

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

KID Sendromu: Nadir bir klinik antite

AKGÜN DOĞAN Ö., OĞUZ S., MENTEŞOĞLU D., ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Çok nadir iki sendromun birlikteliği: Noonan syndrome like with loose anagen hair ile ICF2 sendromu

AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., Lissewski C., Erman B., ÇAĞDAŞ AYVAZ D. N., Boztuğ K., et al.

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Teebi hipertelorizm sendromu

ÜREL DEMİR G., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Woodhouse-Sakati sendromunda iki yeni mutasyon

OĞUZ S., AKGÜN DOĞAN Ö., ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Tüberoskleroz hemihiperplazi birlikteliği

AKGÜN DOĞAN Ö., ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Juvenil Paget Hastalığı

OĞUZ S., ÜREL DEMİR G., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALİKAŞİFOĞLU M., et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

6p25.3 delesyonu

AKGÜN DOĞAN Ö., ÜREL DEMİR G., GÜLERAY N., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., KUTLUK M. T., et al.

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Taşıyıcı kız kardeşlerin oğullarında zihinsel yetersizlik

ÜREL DEMİR G., OĞUZ S., GÜLERAY N., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Peters Plus Sendromu

ÜREL DEMİR G., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: a RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., AKGÜN DOĞAN Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.

International Skeletal Dysplasia Society Meeting, 20 - 23 September 2017

SOX9 gene dublication-related 46,XX ovotesticular disorder of sex development

ÖZÖN Z. A., ALİKAŞİFOĞLU A., GÖNÇ E. N., VURALLI KARAOĞLAN D., BÜYÜKYILMAZ G., ŞİMŞEK KİPER P. Ö., et al.

10th International Meeting of Pediatric Endocrinolgy, 14 - 17 September 2017

Sox9 gene duplication-related 46, XX ovotesticular disorder of sex development

ÖZÖN Z. A., ALİKAŞİFOĞLU A., GÖNÇ E. N., VURALLI KARAOĞLAN D., BÜYÜKYILMAZ G., ŞİMŞEK KİPER P. Ö., et al.

10th International Meeting of Pediatric Endocrinology, Washington, Kiribati, 14 - 17 September 2017, vol.88, pp.371

ICF SYNDROME: CLINICAL, IMMUNOLOGICAL AND CYTOGENETIC ANALYSIS OF SEVENCASES

akarsu a., ÇAĞDAŞ AYVAZ D. N., METİN A., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALİKAŞİFOĞLU M., et al.

ESID 2017, 11 - 14 September 2017

Partial Trisomy 18 From a marker chromosome to a rare chromosomal disorder

OĞUZ S., GÜLERAY N., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.

European Cytogenetics Conference, 1 - 04 July 2017

Duplication ina patient presenting with SRY negative 46XX disorders of sex development

ŞİMŞEK KİPER P. Ö., ÖZÖN Z. A., GÖNÇ E. N., ALİKAŞİFOĞLU A., ÜTİNE G. E., BODUROĞLU O. K., et al.

50th The European Society of Human Genetics, 27 - 29 May 2017

A novel homozygous ROGD1 mutation in two siblings with Kohlschutter-Tönz syndrome: A rare entity

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., Zschocke J., BODUROĞLU O. K.

European Society of Human Genetics Conference 2017, Kopenhag, 27 - 30 May 2017

RSPRY1 associated skeletal dysplasia: Spondylo-epi-metaphyseal dysplasia with conobrachydactyly and craniosynostosis

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., AKGÜN DOĞAN Ö., YILMAZ G., ÜTİNE G. E., et al.

European Society of Human Genetics Conference 2017, Kopenhag, Denmark, 27 - 30 May 2017

Homozygous novel variant in MUT in a patient with intellectual disability without metabolic derangement

ÜTİNE G. E., TAŞKIRAN Z. E., KOŞUKCU C., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., BODUROĞLU O. K., et al.

European Society of Human Genetics Conference 2017, Kopenhag, Denmark, 27 - 30 May 2017

Prenatal tarama testleri (ikili, üçlü, dörtlü testler, noninvazif prenatal tarama) ve genetik danışma

Birinci Basamak Hekimleri için Çocuk Genetik Hastalıkları Sempozyumu 5, Balıkesir, Turkey, 08 May 2017

Two Siblings With Primary Pulmonary Hypertension And Cleidocranial Dysostosis: Report Of A New Association

AYPAR E., ERTUĞRUL İ., ALEHAN D., utine e., KUMBASAR U., DEMİRCİN M.

51st Annual Meeting of the Association for European Paediatric and Congenital Cardiology (AEPC), United Kingdom, 29 March - 01 April 2017, vol.27, pp.90-91

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SOX9 gen dublikasyonuna bağlı 46,XX ovotestiküler cinsel farklılaşma bozukluğu.

ÖZÖN Z. A., ALİKAŞİFOĞLU A., GÖNÇ E. N., VURALLI KARAOĞLAN D., Büyükyılmaz G., ŞİMŞEK KİPER P. Ö., et al.

XXI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 26 - 30 April 2017, pp.117

SOX9 gen duplikasyonuna bağlı 46,XX ovotestiküler cinsel farklılaşma bozukluğu

ÖZÖN Z. A., ALİKAŞİFOĞLU A., GÖNÇ E. N., VURALLI KARAOĞLAN D., Büyükyılmaz G., ŞİMŞEK KİPER P. Ö., et al.

XXı.Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 26 - 30 April 2017

Primer Pulmoner Hipertansiyon ve Kleidokraniyal Dizostoz Tanısı Alan İki Kardeşin Olgu Sunumu: Yeni Bir Birlikteliğin Bildirimi

AYPAR E., ERTUĞRUL İ., ALEHAN D., utine e., KUMBASAR U., DEMİRCİN M.

16. Ulusal Pediatrik Kardiyoloji ve Kalp Cerrahisi Kongresi, Turkey, 19 - 21 April 2017

Erken over yetmezliği ve menopoz genetiği

2. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Turkey, 23 - 25 February 2017

Fragile X Syndrome

1st Turkish – Romanian Pediatric Meeting, Turkey, 11 November 2016

Birinci Basamak Hekimlerinin Genetiğe Katkısı

Birinci Basamak Hekimleri için ÇOCUK GENETİK HASTALIKLARI SEMPOZYUMU IV, Turkey, 07 November 2016

Analysis of chromosome 22q11 2 copy number variations by multiplex ligation dependent probe amplification

ALARCON MARTİNEZ T., KABAÇAM S., CEYLAN A. C., ŞİMŞEK KİPER P. Ö., ALİKAŞİFOĞLU M., BODUROĞLU O. K., et al.

American Society of Human Genetics 66th Meeting, 18 - 22 October 2016

Array CGH’te Saptanan Kopya Sayısı Değişikliklerinin Klinikle ve Kantitatif PCR ile Değerlendirilmesi

CEYLAN A. C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALİKAŞİFOĞLU M.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 5 - 09 October 2016, pp.356

Arthrogryposis multiplex congenita AMC Spectrum and classification at a tertiary referral center

ÖNCEL İ., HALİLOĞLU V. G., ÜTİNE G. E., AKSOY M. C., BODUROĞLU O. K., TOPALOĞLU H. A.

21st International Congress of the World-Muscle-Society, Granada, Nicaragua, 4 - 08 October 2016, vol.26, pp.107

The Absence of Somatic Defects in Fanconi Anemia is Not Indicative for the Absence of Bone Marrow Failure

ALTAN İ., ÜNAL CANGÜL Ş., BAYHAN T., ÜTİNE G. E., GÜMRÜK F.

Fanconi Anemia Research FundScientific Symposium September 15-18, Bellevue, Washington, USA, 15 - 18 September 2016

Clinical and Molecular Analysis of 3M Syndrome Patients A Study From Turkey

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., Cormier Daire V., et al.

28th International Congress of Pediatrics, 17 - 22 August 2016

Clinical and Molecular aspects and genotype phenotype correlation in Rett syndrome

ZENGİN AKKUŞ P., ÜTİNE G. E., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., HALİLOĞLU V. G., et al.

European Society of Human Genetics Conference 2016 Barcelona, 21 - 24 May 2016

Meier Gorlin ear patella short stature syndrome A rare clinical entity

AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ALANAY Y., ÜTİNE G. E., BODUROĞLU O. K.

European Society of Human Genetics Conference 2016, 21 - 24 May 2016

Clinical and quantitative PCR confirmation of copy number variations detected by array CGH

CEYLAN A. C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALİKAŞİFOĞLU M.

European Society of Human Genetics Conference 2016, 21 - 24 May 2016

OBSL1 Mutations Represent The Major Gene Defect In A Group Of 3M Syndrome Patients A Study From Turkey

ŞİMŞEK KİPER P. Ö., Taşkıran E. Z., ARSLAN U., Koşukçu C., AKGÜN DOĞAN Ö., ÜTİNE G. E., et al.

European Society of Human Genetics Conference 2016, 21 - 24 May 2016

Clinical molecular aspects and genotype phenotype correlation in Rett syndrome

ZENGİN AKKUŞ P., ÜTİNE G. E., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., HALİLOĞLU V. G., et al.

European Society of Human Genetics 2016, Barcelona, Spain, 21 - 24 May 2016

Clinical aspects and genotype-phenotype correlation in Rett syndrome

ZENGİN AKKUŞ P., ÜTİNE G. E., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., HALİLOĞLU V. G., et al.

European Human Genetics Conference, Barcelona, Spain, 21 May 2016

Genetik Testler Kime ve Ne Zaman

52. Türk Pediatri Kongresi, İstanbul, Turkey, 15 - 19 May 2016

Genodermatozlarda Dismorfik Bulgular

7. Ulusal Pediatrik Dermatoloji Günleri, Ankara, Turkey, 27 - 30 April 2016

Dismorfik Bulguları ve Selektif IgA Eksikliği Tanısıyla İzlenen Monozomi 18p Olgusu

ZENGİN AKKUŞ P., ÇETİNKAYA A., ÇAĞDAŞ AYVAZ D. N., ALİKAŞİFOĞLU M., ALİKAŞİFOĞLU A., KANDEMİR N., et al.

2. Klinik İmmünoloji Kongresi, Antalya, Turkey, 31 March - 03 April 2016

Glutarik Asidemi Tip 2 Dismorfolojik İpuçları Veren Metabolik Bir Hastalık

AKGÜN DOĞAN Ö., ÜNSAL Y., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., DURSUN A., TALİM B., et al.

3. Nörometabolik Dismorfoloji Sempozyumu, Turkey, 10 - 12 March 2016

Fetal Valproat Sendromu: Bir Olgu Sunumu

KÖMÜRLÜOĞLU A., DEMİREL M., TEKŞAM Ö., ÜTİNE G. E.

59. Türkiye Milli Pediatri Kongresi, Turkey, 4 - 08 November 2015

Zihinsel Yetersizlikte Genetik Etiyolojiye Yönelik İncelemeler

2.Ulusal Çocuk Genetik Sempozyumu, Turkey, 22 - 24 October 2015

3M Sendromlu Bir Grup Hastada Klinik Ve Moleküler Bulguların Analizi

ŞİMŞEK KİPER P. Ö., EKİM ZİHNİ T., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., VALERİE C. D., et al.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Mowat Wilson sendromu Klinik değerlendirme ve ZEB2 gen mutasyon delesyon analizi

Kılıç E., Çetinkaya A., ÜTİNE G. E., BODUROĞLU O. K.

II. Ulusal Çocuk Genetik Sempozyumu, Turkey, 22 - 24 October 2015

Bir vaka nedeniyle Goltz sendromu

TAŞTEMEL T., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Erişkin dönemde tanı alan Williams sendromu vakası

AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALİKAŞİFOĞLU M., BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

WAGR Sendromu Aniriden daha fazlası

PINAR Z. A., AKGÜN DOĞAN Ö., TAYLAN ŞEKEROĞLU H., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Hennekam sendromu Otozomal resesif geçişli bir konjenital lenfödem

GÜLERAY N., ÖZER M., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Nadir görülen bir iskelet displazisi Stüve Wiedemann sendromu

AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Sempozyum Kitabı Sayfa 72., Turkey, 22 - 24 October 2015

Roberts SC Phocomelia Syndrome A Rare Clinical Entity

GÜLERAY N., ŞİMŞEK KİPER P. Ö., DEMİREL M., ÇETİNKAYA A., ÜTİNE G. E., ALİKAŞİFOĞLU M., et al.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

A Novel SMARCAL1 Mutation Associated With Schimke Immunoosseous Dysplasia A Clinical Report

AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., MARTİN Z., BODUROĞLU O. K.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

Skeletal Dysplasia With Intellectual Disability Dyggve Melchior Clausen Dysplasia

ÜTİNE G. E., ŞİMŞEK KİPER P. Ö., BODUROĞLU O. K., SHİRO İ., GEN N.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

A Novel NKX3 2 Mutation Associated With Spondylo Megaepiphyseal Metaphyseal Dysplasia In A Neonate A Rare Clinical Entity

ŞİMŞEK KİPER P. Ö., YAVUZ Ş., ÜTİNE G. E., SOYER T., KORKMAZ TOYGAR A., ALİKAŞİFOĞLU M., et al.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

Frontometaphyseal dysplasia with a novel FLNA gene mutation

Kılıç E., ÜTİNE G. E., Robertson S., BODUROĞLU O. K.

12th International Skeletal Dysplasia Meeting, 29 July - 01 August 2015

Chondrodysplasia punctata brachytelephalangic type with a novel ARSE mutation A clinical report

CEYLAN A. C., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ANLAR F. B., BODUROĞLU O. K., Ikegawa S., et al.

12th International Skeletal Dysplasia Meeting, 29 July - 01 August 2015

Clinical and Molecular Analysis of 3M Syndrome In A Group of Turkish Patients

ŞİMŞEK KİPER P. Ö., EKİM ZİHNİ T., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., VALERİE C. D., et al.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

Chondrodysplasia Punctata Brachytelephalangic Type With A Novel ARSE Mutation A Clinical Report Poster sunumu Poster No 26 July 29th August 1 2015 Istanbul Turkey Abstract Book p 108

CEYLAN A. C., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ANLAR F. B., BODUROĞLU O. K., SHİRO İ., et al.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

Experience of a Skeletal Dysplasia Registry In Turkey A Five Years Retrospective Analysis

KURT ŞÜKÜR E. D., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ERGÜL T., ALİKAŞİFOĞLU M.

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

Keutel Syndrome A Rare Clinical Entity

DEMİREL M., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.

International Skeletal Dysplasia Society 12th Biennial Meeting, July 29th-August 1, 2015-Istanbul, Turkey, Abstract Book p.109., İstanbul, Turkey, 29 July - 01 August 2015

Two patients with microdeletion and microduplication involving 1q21 1

CEYLAN A. C., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALİKAŞİFOĞLU M., BODUROĞLU O. K.

10th European Cytogenetics Conference, 4 - 07 July 2015, vol.23, pp.49

Microdeletion and microduplication of 1q21.1 in two separate patients

CEYLAN A. C., ÜTİNE G. E., BODUROĞLU O. K., ALİKAŞİFOĞLU M.

10th European Cytogenetics Conference, France, 4 - 07 July 2015

Many faces of Rett syndrome: Is there still a diagnostic delay?

UTİNE G. E., ZENGİN AKKUŞ P., BODUROĞLU O. K., HALİLOĞLU V. G.

11th European Paediatric Neurology Society (EPNS) Congress, Viyana, Austria, 27 - 30 May 2015, vol.19, pp.148

Clinical Approach to Intellectual Disability

2nd Consensus in Pediatrics and Neonatology for Mediterranean Countries, Sofya, Bulgaria, 14 - 16 April 2015

1p36 delesyonu: bir vaka takdimi

ZENGİN AKKUŞ P., ŞAHİN Y., ÜTİNE G. E., BODUROĞLU O. K.

3. PUADER Kongresi, Turkey, 30 April 2014

Novel Mutations in the Osteoprotegerin Gene TNFRSF11B in Two Patients with Juvenile Paget's Disease.

Naot D., Choi A., Musson D., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.

Annual Meeting of the American-Society-for-Bone-and-Mineral-Research, Texas, United States Of America, 12 - 15 September 2014, vol.29

Case Presentation: Sjögren-Larsson Syndrome

KILIÇ E., KILIÇ M., ÜTİNE G. E., COŞKUN T., NAKANO H., BODUROĞLU O. K.

12th International Congress of Inborn Errors of Metabolism. (ICIEM, 2013, Barcelona, Spain)., Barcelona, Spain, 03 September 2013

Books

Dudak damak yarıklarının genetik temeli

in: Dudak ve Damak Yarıkları Hacettepe Ekip Yaklaşımı, Özgür FF, Küçükgüven A, Editor, Hekim Tıp Kitabevi, Ankara, pp.82-91, 2020

Tıbbi Genetik Bütünleşik Yaklaşım. (ed). Çeviri Editörleri:, 2019, Hipokrat Yayıncılık, Ankara.

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALİKAŞİFOĞLU M.

Hipokrat Yayıncılık, Ankara, 2019

Zihinsel Yetersizliğe Yaklaşım

in: YURDAKÖK PEDİATRİ, MURAT YURDAKÖK, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.2018-2023, 2017

Konjenital Kalp Hastalıklarının Epidemiyolojisi ve Genetik Temeli

in: YURDAKÖK PEDİATRİ, MURAT YURDAKÖK, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.2960-2961, 2017

Zihinsel Yetersizlik

in: Pediatrinin Esasları, Erkan T, Kutlu T, Satar M, Ünüvar E , Editor, İstanbul Tıp Kitabevleri, İstanbul, pp.125-130, 2016

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