Prof. MEHMET ALİKAŞİFOĞLU

Publication Network

Published journal articles indexed by SCI, SSCI, and AHCI

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, 2022 (Journal Indexed in SCI)

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, 2022 (Journal Indexed in SCI)

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, vol.14, no.2, 2022 (Journal Indexed in SCI)

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, vol.94, no.SUPPL 1, pp.210-211, 2021 (Journal Indexed in SCI)

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, vol.34, no.12, pp.1573-1584, 2021 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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, 2020 (Journal Indexed in SCI) Sustainable Development

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 (Journal Indexed in SCI)

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, vol.11, no.1, pp.38-42, 2020 (Journal Indexed in SCI) Sustainable Development

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 (Journal Indexed in SCI)

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, vol.223, no.5, pp.297-303, 2019 (Journal Indexed in SCI) Sustainable Development

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 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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 (Journal Indexed in SSCI)

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, vol.19, no.1, pp.22-28, 2019 (Journal Indexed in SCI)

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

ARDIÇLI D. , Haliloglu G., ALİKAŞİFOĞLU M. , Topaloglu H.

NEUROPEDIATRICS, vol.50, no.1, pp.41-45, 2019 (Journal Indexed in SCI)

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, vol.78, no.OCE2, 2019 (Journal Indexed in SCI)

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 (Journal Indexed in SCI Expanded)

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, vol.26, no.11, pp.1563-1564, 2018 (Journal Indexed in SCI)

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 (Journal Indexed in 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 (Journal Indexed in 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 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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, vol.21, no.6, pp.643-651, 2017 (Journal Indexed in SCI)

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, vol.48, no.6, pp.477-481, 2017 (Journal Indexed in SCI)

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 (Journal Indexed in 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 (Journal Indexed in SCI)

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 (Journal Indexed in SCI Expanded)

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, vol.38, pp.248-254, 2017 (Journal Indexed in SCI)

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, vol.14, no.4, pp.3129-3133, 2016 (Journal Indexed in SCI)

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, vol.68, 2016 (Journal Indexed in SCI)

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

Ünal D. , Ünal M. F. , Alikaşifoğlu M. , Cetinkaya A.

PSYCHIATRY INVESTIGATION, vol.13, no.4, pp.427-433, 2016 (Journal Indexed in SCI)

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, vol.88, no.3, pp.499-513, 2015 (Journal Indexed in SCI) Sustainable Development

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, vol.42, no.8, pp.1532-1534, 2015 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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, vol.57, no.4, pp.324-333, 2015 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects

ŞAHİNER Ü. M. , ALANAY Y., ALEHAN D. , TUNÇBİLEK E. , ALİKAŞİFOĞLU M.

PEDIATRICS INTERNATIONAL, vol.56, no.2, pp.167-172, 2014 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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, vol.34, no.10, pp.1952-1957, 2013 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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, vol.44, no.1, pp.58-61, 2013 (Journal Indexed in SCI)

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, vol.19, pp.114-120, 2013 (Journal Indexed in SCI)

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, vol.24, no.5, pp.285-291, 2012 (Journal Indexed in SCI)

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, vol.19, no.4, pp.376-384, 2012 (Journal Indexed in SCI)

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, vol.37, no.2, pp.150-155, 2012 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

CYP1A1 polymorphism in adolescents with polycystic ovary syndrome

AKGÜL S. , DERMAN O. , ALİKAŞİFOĞLU M. , Aktas D.

INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, vol.112, no.1, pp.8-10, 2011 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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, vol.140, 2010 (Journal Indexed in SCI)

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, vol.3, 2010 (Journal Indexed in SCI)

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, vol.53, no.2, pp.208-210, 2009 (Journal Indexed in SCI) Sustainable Development

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 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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, vol.10, no.1, pp.41-50, 2009 (Journal Indexed in SCI)

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, vol.87, no.1, pp.52-57, 2009 (Journal Indexed in SCI)

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, vol.51, no.4, pp.343-350, 2008 (Journal Indexed in SCI)

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, vol.75, no.6, pp.638-640, 2008 (Journal Indexed in SCI)

CYP1A1 gene polymorphism and polycystic ovary syndrome

ESİNLER İ. , Aktas D., Otegen U., ALİKAŞİFOĞLU M. , Yarali H. , TUNÇBİLEK E.

REPRODUCTIVE BIOMEDICINE ONLINE, vol.16, no.3, pp.356-360, 2008 (Journal Indexed in SCI)

Factor V Leiden mutation and type 1 diabetes mellitus

Demirer A. N. , ALİKAŞİFOĞLU M. , TUNÇBİLEK E. , Karakus S., Erbas T.

BLOOD COAGULATION & FIBRINOLYSIS, vol.19, no.1, pp.70-74, 2008 (Journal Indexed in SCI) Sustainable Development

Articles Published in Other Journals

Reduced irisin levels in patients with acromegaly

ŞENDUR S. N. , Baykal G., FIRLATAN B. , Aydin B., LAY İ. , DAĞDELEN S. , et al.

HORMONE MOLECULAR BIOLOGY AND CLINICAL INVESTIGATION, 2022 (Journal Indexed in ESCI)

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 (Journal Indexed in ESCI) 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 (Refereed Journals of Other Institutions)

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 (Journal Indexed in ESCI)

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 (Refereed Journals of Other Institutions)

Refereed Congress / Symposium Publications in Proceedings

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, Turkey, 25 - 27 October 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, 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

SECONDARY VASCULITIS DUE TO SINGLE GENE DEFECTS

ÖZEN S. , BİLGİNER Y. , Batu E., KARADAĞ Ö. , ALİKAŞİFOĞLU M.

19th International Vasculitis and ANCA Workshop, Pennsylvania, United States Of America, 7 - 10 April 2019, vol.58

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

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 May 2018 - 12 January 2019 Sustainable Development

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

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

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

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

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

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

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

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

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

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, Cyprus (Kktc), 29 - 30 June 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, United States Of America, 1 - 04 April 2017, vol.38

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

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

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

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, Japan, 11 - 14 May 2009, vol.11, pp.964-965

Books & Book Chapters

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

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

Hipokrat Yayıncılık, Ankara, 2019

Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings

Books & Book Chapters