Yayınlar & Eserler

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

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 , sa.1, 2024 (SCI-Expanded) identifier identifier

A novel variant in severe disease of DADA2: involving vasculitic and haematologic features

AYAN G., Yagiz B., ÇINAR O. E., ÇAĞDAŞ AYVAZ D. N., ÖZBEK D. A., TUNCER A., et al.
SCANDINAVIAN JOURNAL OF RHEUMATOLOGY , cilt.52, sa.1, ss.93-95, 2023 (SCI-Expanded) identifier identifier identifier

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Mroczek M., Longman C., Farrugia M. E., Garcia S. K., ARDIÇLI D., Topaloglu H., et al.
JOURNAL OF MEDICAL GENETICS , cilt.59, sa.11, ss.1069-1074, 2022 (SCI-Expanded) identifier identifier identifier

Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population

IŞGIN ATICI K., Alathari B. E., TURAN DEMİRCİ B., ŞENDUR S. N., LAY İ., Ellahi B., et al.
NUTRIENTS , cilt.14, sa.2, 2022 (SCI-Expanded) Creative Commons License identifier identifier identifier

Is conventional treatment still the first choice in pediatric patients with PHEX mutations in an era of monoclonal FGF-23 antibody?

Alikasifoglu A., Unsal Y., Gonc N., Ozon A., Kandemir N., Alikasifoglu M.
HORMONE RESEARCH IN PAEDIATRICS , cilt.94, sa.SUPPL 1, ss.210-211, 2021 (SCI-Expanded) identifier

Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation

ALİKAŞİFOĞLU A., ÜNSAL Y., GÖNÇ E. N., ÖZÖN Z. A., KANDEMİR N., ALİKAŞİFOĞLU M.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.12, ss.1573-1584, 2021 (SCI-Expanded) identifier identifier identifier

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 , cilt.185, ss.1888-1896, 2021 (SCI-Expanded) identifier identifier identifier

FTOgene-lifestyle interactions on serum adiponectin concentrations and central obesity in a Turkish population

IŞGIN ATICI K., Alsulami S., TURAN DEMİRCİ B., Surendran S., ŞENDUR S. N., LAY İ., et al.
INTERNATIONAL JOURNAL OF FOOD SCIENCES AND NUTRITION , cilt.72, sa.3, ss.375-385, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

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 , cilt.64, sa.4, 2021 (SCI-Expanded) Creative Commons License identifier identifier identifier

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 , cilt.51, sa.6, ss.445-449, 2020 (SCI-Expanded) identifier identifier identifier

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 , cilt.11, ss.302-308, 2020 (SCI-Expanded) Creative Commons License identifier identifier identifier

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 , cilt.40, sa.6, ss.934-939, 2020 (SCI-Expanded) identifier identifier identifier

Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Ürel-Demir G., Akgün-Doǧan Ö., OĞUZ S., Güleray-Lafcl N., Şimşek-Kiper P. Ö., Eda Utine G., et al.
MOLECULAR SYNDROMOLOGY , cilt.11, sa.1, ss.38-42, 2020 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

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 , cilt.62, sa.11, 2019 (SCI-Expanded) identifier identifier identifier

Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic Analysis

NEMUTLU E., ÖRGÜL G., REÇBER T., AYDIN E., ÖZKAN E., TURĞAL M., et al.
ZEITSCHRIFT FUR GEBURTSHILFE UND NEONATOLOGIE , cilt.223, sa.5, ss.297-303, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

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 , cilt.62, sa.8, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

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 , cilt.179, sa.7, ss.1157-1172, 2019 (SCI-Expanded) Creative Commons License identifier identifier identifier

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 , cilt.63, sa.6, ss.548-557, 2019 (SSCI) identifier identifier identifier

Evaluation of Pregnancies in 25 Families with Balanced/Unbalanced Chromosomal Translocations

GÜLERAY N., Yucesoy H. M., FADILOĞLU E., TANAÇAN A., ALİKAŞİFOĞLU M., BEKSAÇ M. S.
INTERNATIONAL JOURNAL OF HUMAN GENETICS , cilt.19, sa.1, ss.22-28, 2019 (SCI-Expanded) Creative Commons License identifier

Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience

ARDIÇLI D., Haliloglu G., ALİKAŞİFOĞLU M., Topaloglu H.
NEUROPEDIATRICS , cilt.50, sa.1, ss.41-45, 2019 (SCI-Expanded) identifier identifier identifier

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 , cilt.62, sa.1, ss.21-26, 2019 (SCI-Expanded) identifier identifier identifier

Impact of Fat Mass and Obesity Associated (FTO) Gene Variants and Lifestyle Factors on Obesity Traits in A Turkish Population

Alsulami S., Isgin-Atici K., Turan-Demirci B., Surendran S., ŞENDUR S. N., LAY İ., et al.
PROCEEDINGS OF THE NUTRITION SOCIETY , cilt.78, sa.OCE2, 2019 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier

Genetic testing for DADA2: How can we avoid missing patients?

SÖNMEZ H. E., BATU AKAL E. D., Taskiran E. Z., ALİKAŞİFOĞLU M., BİLGİNER Y., ÖZEN S.
EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.26, sa.11, ss.1563-1564, 2018 (SCI-Expanded) Creative Commons License identifier identifier identifier

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 , cilt.35, sa.5, ss.427-433, 2018 (SCI-Expanded) identifier identifier identifier

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 , cilt.221, ss.76-80, 2018 (SCI-Expanded) identifier identifier identifier

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 , cilt.90, ss.363, 2018 (SCI-Expanded) identifier

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)

Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member

TOPÇU M., Aktas D., ÖZTOPRAK M., Mungan N. O., YÜCE A., ALİKAŞİFOĞLU M.
MOLECULAR DIAGNOSIS & THERAPY , cilt.21, sa.6, ss.643-651, 2017 (SCI-Expanded) identifier identifier identifier

Neonatal-Onset Recurrent Guillain-Barre Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

Ardicli D., TASKIRAN E. Z., KOŞUKCU C., Temucin Ç. M., OGUZ K. K., HALILOGLU G., et al.
NEUROPEDIATRICS , cilt.48, sa.6, ss.477-481, 2017 (SCI-Expanded) identifier identifier identifier

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 , cilt.36, sa.6, ss.445-451, 2017 (SCI-Expanded) identifier identifier identifier

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 , cilt.10, 2017 (SCI-Expanded) identifier

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 , cilt.60, sa.5, ss.279-283, 2017 (SCI-Expanded) identifier identifier identifier

Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation

AKİN S., NOYAN S., DAĞDELEN S., Pasaoglu I., KAYNAROGLU V., MUT AŞKUN M., et al.
Neuroendocrinology Letters , cilt.38, ss.248-254, 2017 (SCI-Expanded) identifier identifier

Whole Exome Sequencing in Early Onset Systemic Lupus Erythematosus

BATU AKAL E. D., KOŞUKCU C., Taskiran E. Z., AKMAN S., Ozturk K., SÖZERİ B., et al.
ARTHRITIS & RHEUMATOLOGY , cilt.68, 2016 (SCI-Expanded) identifier

A novel missense mutation of the GRK1 gene in Oguchi disease

Teke M. Y., Citirik M., Kabacam S., Demircan S., ALİKAŞİFOĞLU M.
MOLECULAR MEDICINE REPORTS , cilt.14, sa.4, ss.3129-3133, 2016 (SCI-Expanded) Creative Commons License identifier identifier identifier

Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases

Ünal D., Ünal M. F., Alikaşifoğlu M., Cetinkaya A.
PSYCHIATRY INVESTIGATION , cilt.13, sa.4, ss.427-433, 2016 (SCI-Expanded) Creative Commons License identifier identifier identifier

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Karaca E., Harel T., Pehlivan D., Jhangiani S. N., Gambin T., Akdemir Z. C., et al.
NEURON , cilt.88, sa.3, ss.499-513, 2015 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations

Batu E. D., KARADAĞ Ö., TASKIRAN E. Z., KALYONCU U., AKSENTIJEVICH I., ALİKAŞİFOĞLU M., et al.
JOURNAL OF RHEUMATOLOGY , cilt.42, sa.8, ss.1532-1534, 2015 (SCI-Expanded) Creative Commons License identifier identifier identifier

Two patients with microdeletion and microduplication involving 1q21.1

CEYLAN A. C., ÜTİNE G. E., ALİKAŞİFOĞLU M., BODUROĞLU O. K.
CHROMOSOME RESEARCH , cilt.23, 2015 (SCI-Expanded) identifier

Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study

Aydin-Son Y., Batu E. D., DEMIRKAYA E., BİLGİNER Y., Kasapcopur O., Unsal E., et al.
TURKISH JOURNAL OF PEDIATRICS , cilt.57, sa.4, ss.324-333, 2015 (SCI-Expanded) identifier identifier identifier

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 , cilt.56, sa.5, ss.542-545, 2014 (SCI-Expanded) identifier identifier identifier

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 , cilt.18, sa.3, ss.327-337, 2014 (SCI-Expanded) Creative Commons License identifier identifier identifier

Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects

ŞAHİNER Ü. M., ALANAY Y., ALEHAN D., TUNÇBİLEK E., ALİKAŞİFOĞLU M.
PEDIATRICS INTERNATIONAL , cilt.56, sa.2, ss.167-172, 2014 (SCI-Expanded) identifier identifier identifier

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 , cilt.25, sa.1, ss.53-62, 2014 (SCI-Expanded) identifier identifier identifier

Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Oguz K. K., Haliloglu G., TEMUÇİN Ç. M., GÖÇMEN R., Has A. C., Doerschner K., et al.
AMERICAN JOURNAL OF NEURORADIOLOGY , cilt.34, sa.10, ss.1952-1957, 2013 (SCI-Expanded) Creative Commons License identifier identifier identifier

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 , cilt.28, sa.7, ss.926-932, 2013 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

Two Siblings With Similar Phenotypes: One of Them Had Ring 20 Chromosome

Tezer F. I., Aktas D., ALİKAŞİFOĞLU M., SAYGI S.
CLINICAL EEG AND NEUROSCIENCE , cilt.44, sa.1, ss.58-61, 2013 (SCI-Expanded) identifier identifier identifier

Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population

Kasim B., Irkec M., ALİKAŞİFOĞLU M., Orhan M., MOCAN M. C., Aktas D.
MOLECULAR VISION , cilt.19, ss.114-120, 2013 (SCI-Expanded) identifier identifier identifier

The relationship between changes in functional cardiac parameters following anthracycline therapy and carbonyl reductase 3 and glutathione S transferase Pi polymorphisms

VOLKAN-SALANCI B., AKSOY H., Kiratli P. O., TULUMEN E., GULER N., OKSUZOGLU B., et al.
JOURNAL OF CHEMOTHERAPY , cilt.24, sa.5, ss.285-291, 2012 (SCI-Expanded) identifier identifier identifier

Serum PON-1 Activity but not Q192R Polymorphism is Related to the Extent of Atherosclerosis

Bayrak A., Bayrak T., TOKGÖZOĞLU S. L., VOLKAN SALANCI B., Deniz A., YAVUZ B., et al.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS , cilt.19, sa.4, ss.376-384, 2012 (SCI-Expanded) Creative Commons License identifier identifier identifier

Relationship of PON2 gene Ser311Cys polymorphism and serum paraoxonase activity with coronary artery disease in Turkish population

Bayrak T., Bayrak A., VOLKAN SALANCI B., Deniz A., TOKGÖZOĞLU S. L., YAVUZ B., et al.
TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI , cilt.37, sa.2, ss.150-155, 2012 (SCI-Expanded) identifier identifier

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 , cilt.53, sa.5, ss.558-560, 2011 (SCI-Expanded) identifier identifier identifier

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 , cilt.19, 2011 (SCI-Expanded) identifier

CYP1A1 polymorphism in adolescents with polycystic ovary syndrome

AKGÜL S., DERMAN O., ALİKAŞİFOĞLU M., Aktas D.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS , cilt.112, sa.1, ss.8-10, 2011 (SCI-Expanded) identifier identifier

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 , cilt.86, sa.4, ss.551-559, 2010 (SCI-Expanded) Creative Commons License identifier identifier identifier

THE RELATION BETWEEN FUNCTIONAL CARDIAC PARAMETERS AND SINGLE NUCLEOTIDE POLMORPHISMS IN GLUTATHIONE S TRANSFERASE P1 AND CARBONYL REDUCTASE3 GENES

VOLKAN SALANCI B., Tulumen E., Aksoy H., OKUTUCU S., Kiratli P. O., Oksuzoglu B., et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY , cilt.140, 2010 (SCI-Expanded) identifier

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Aktas D., Utine E. G., Mrasek K., Weise A., von Eggeling F., Yalaz K., et al.
MOLECULAR CYTOGENETICS , cilt.3, 2010 (SCI-Expanded) identifier identifier identifier

Wilms Tumor, AML and Medulloblastoma in a Child With Cancer Prone Syndrome of Total Premature Chromatid Separation and Fanconi Anemia

Sari N., AKYÜZ C., Aktas D., GÜMRÜK F., ORHAN D., ALİKAŞİFOĞLU M., et al.
PEDIATRIC BLOOD & CANCER , cilt.53, sa.2, ss.208-210, 2009 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

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 , sa.6, ss.1317-1318, 2009 (SCI-Expanded) identifier identifier identifier

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 , cilt.51, sa.3, ss.199-206, 2009 (SCI-Expanded) identifier identifier identifier

Impact of renin-angiotensin system polymorphisms on renal haemodynamic responsiveness to acute angiotensin-converting enzyme inhibition in type 2 diabetes mellitus

VOLKAN-SALANCI B., DAĞDELEN S., ALİKAŞİFOĞLU M., ERBAS T., HAYRAN M., Erbas B.
JOURNAL OF THE RENIN-ANGIOTENSIN-ALDOSTERONE SYSTEM , cilt.10, sa.1, ss.41-50, 2009 (SCI-Expanded) identifier identifier identifier

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum

Berker N., Alanay Y., Elgin U., Volkan-Salanci B., Simsek T., Akarsu N., et al.
ACTA OPHTHALMOLOGICA , cilt.87, sa.1, ss.52-57, 2009 (SCI-Expanded) identifier identifier identifier

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH

Utine E. G., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K., Vermeesch J., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.51, sa.4, ss.343-350, 2008 (SCI-Expanded) identifier identifier identifier

Association of assisted reproductive technology with twinning and congenital anomalies

Balci S., Engiz O., ALİKAŞİFOĞLU M., ESİNLER İ., BEKSAÇ M. S.
INDIAN JOURNAL OF PEDIATRICS , cilt.75, sa.6, ss.638-640, 2008 (SCI-Expanded) identifier identifier identifier

CYP1A1 gene polymorphism and polycystic ovary syndrome

ESİNLER İ., Aktas D., Otegen U., ALİKAŞİFOĞLU M., Yarali H., TUNÇBİLEK E.
REPRODUCTIVE BIOMEDICINE ONLINE , cilt.16, sa.3, ss.356-360, 2008 (SCI-Expanded) identifier identifier identifier

Factor V Leiden mutation and type 1 diabetes mellitus

Demirer A. N., ALİKAŞİFOĞLU M., TUNÇBİLEK E., Karakus S., Erbas T.
BLOOD COAGULATION & FIBRINOLYSIS , cilt.19, sa.1, ss.70-74, 2008 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

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 , sa.2, ss.83-90, 2024 (ESCI) Creative Commons License identifier

Reduced irisin levels in patients with acromegaly

Şendur S. N., Baykal G., Fırlatan B., Aydin B., Lay İ., Dağdelen S., et al.
HORMONE MOLECULAR BIOLOGY AND CLINICAL INVESTIGATION , cilt.43, sa.3, ss.251-261, 2022 (ESCI) identifier identifier identifier

Gorlin Syndrome in Eleven Patients

ÜTİNE G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., ALİKAŞİFOĞLU M., TUNÇBİLEK E.
JOURNAL OF PEDIATRIC RESEARCH , cilt.4, sa.2, ss.63-67, 2017 (ESCI) Creative Commons License Sürdürülebilir Kalkınma identifier

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 , cilt.38, sa.2, ss.102-105, 2017 (Scopus) Creative Commons License identifier identifier identifier

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 , cilt.46, sa.6, ss.299-300, 2016 (ESCI) identifier identifier

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 , cilt.7, sa.2, 2016 (Hakemli Dergi)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Sendromik olmayan zihinsel yetersizlikte tüm ekzom dizilemenin tanısal verimi

TAŞKIRAN Z. E., KARAOSMANOĞLU B., KOŞUKCU C., ÜREL DEMİR G., akgün doğan ö., Kiper şimşek P. Ö., et al.
16. Tıbbi Biyoloji ve Genetik Kongresi, Türkiye, 25 - 27 Ekim 2019

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, Türkiye, 16 - 20 Ekim 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, Norveç, 11 - 14 Eylül 2019

SECONDARY VASCULITIS DUE TO SINGLE GENE DEFECTS

ÖZEN S., BİLGİNER Y., Batu E., KARADAĞ Ö., ALİKAŞİFOĞLU M.
19th International Vasculitis and ANCA Workshop, Pennsylvania, Amerika Birleşik Devletleri, 7 - 10 Nisan 2019, cilt.58 identifier

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, Yunanistan, 27 - 29 Eylül 2018, cilt.90, ss.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 Eylül 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 Haziran 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 Haziran 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, İtalya, 16 - 19 Haziran 2018

Metabolic Infrastructure of Pregnant Women with Down Syndrome

NEMUTLU E., ÖRGÜL G., Recber T., Aydın E., Özkan E., Turğal M., et al.
Seventh Congress of the South East European Society of Perinatal Medicine, 10 Mayıs 2018 - 12 Ocak 2019 Sürdürülebilir Kalkınma

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, Türkiye, 11 - 13 Ekim 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, Türkiye, 11 - 13 Ekim 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, Türkiye, 11 - 13 Ekim 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, Türkiye, 11 - 13 Ekim 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, Türkiye, 11 - 13 Ekim 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, Türkiye, 11 - 13 Ekim 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, Türkiye, 11 - 13 Ekim 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 Eylül 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 Eylül 2017

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 Eylül 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 Temmuz 2017

Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family

KOŞUKCU C., ASLI K., ALANAY Y., KAVAK P., BERKER N., TAŞKIRAN Z. E., et al.
10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Kıbrıs (Kktc), 29 - 30 Haziran 2017

Association between Klotho gene polymorphisms, circulating Klotho and FGF23 levels and echocardiographic parameters among patients with acromegaly.

NAFİYE H., HEKİMSOY V., KABACAM S., LAY İ., ŞENER Y. Z., DAĞDELEN S., et al.
ENDO 2017, The Endocrine Society’s 99th Annual Meeting and Expo., Orlando, Amerika Birleşik Devletleri, 1 - 04 Nisan 2017, cilt.38

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 Mayıs 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, Danimarka, 27 - 30 Mayıs 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, Danimarka, 27 - 30 Mayıs 2017

Whole Exoma Sequencing in early onset systemic lupus erythematosus

BATU E. D., kosukcu c., TAŞKIRAN Z. E., AKMAN S., Unsal e., ekinci z., et al.
2016 ACR/ARHP Annual Meeting, 6 - 11 Kasım 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 Ekim 2016

KLOTHO GENE POLYMORPHISM A NOVEL PREDICTIVE MARKER FOR CANCER IN ACROMEGALIC PATIENTS

HELVACI N., kabaçam s., ŞENER Y. Z., DAĞDELEN S., MUT AŞKUN M., ALİKAŞİFOĞLU M., et al.
European Neuroendocrine Association Congress 2016, Milan, İtalya, 19 - 22 Ekim 2016 Sürdürülebilir Kalkınma

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, Türkiye, 5 - 09 Ekim 2016, ss.356

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 Ağustos 2016

A novel mutation of the menin gene in a family with multiple endocrine neoplasia type 1

Şendur S. N., DOĞRUL A. B., Kabaçam S., ABBASOĞLU O., ÖNDER S. Ç., SÖKMENSÜER C., et al.
18th European Congress of Endocrinology, 28 - 31 Mayıs 2016

Does IGF2BP2 gene polymorphism have an effect on the development of gestational diabetes mellitus

Çıkman D. İ., Çıkman M. S., ALİKAŞİFOĞLU M., DAĞDELEN S.
18th European Congress of Endocrinology, 28 - 31 Mayıs 2016 Sürdürülebilir Kalkınma

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 Mayıs 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, Türkiye, 31 Mart - 03 Nisan 2016

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, Türkiye, 22 - 24 Ekim 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, Türkiye, 22 - 24 Ekim 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 Temmuz - 01 Ağustos 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 Temmuz - 01 Ağustos 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 Temmuz - 01 Ağustos 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 Temmuz - 01 Ağustos 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 Temmuz 2015, cilt.23, ss.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, Fransa, 4 - 07 Temmuz 2015

APPLICATION OF A CYTOGENETIC PROGRESSION SCORE (GPS), TUMOR LOCATION, AND GENETIC PROGRESSION IN MENINGIOMAS: HACETTEPE EXPERIENCE

Mut M., Aktas D., ALİKAŞİFOĞLU M., Ozgen T.
3rd Quadrennial Meeting of the World-Federation-of-Neuro-Oncoloyg/6th Meeting of the Asian-Society-for-Neuro-Oncology, Yokohama, Japonya, 11 - 14 Mayıs 2009, cilt.11, ss.964-965 identifier

Kitap & Kitap Bölümleri

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

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALİKAŞİFOĞLU M.
Hipokrat Yayıncılık, Ankara, 2019

Metrikler

Yayın

121

Atıf (WoS)

732

H-İndeks (WoS)

12

Atıf (Scopus)

580

H-İndeks (Scopus)

12

Atıf (Scholar)

24

H-İndeks (Scholar)

3

Proje

21

Açık Erişim

19
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