Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, cilt.115, sa.20, ss.5241-5246, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

The Journal of clinical investigation, cilt.127, ss.4090-4103, 2017 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

European journal of human genetics : EJHG, cilt.25, ss.1118-1125, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Journal of Allergy and Clinical Immunology, cilt.137, sa.3, ss.879, 2016 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

HORMONE RESEARCH IN PAEDIATRICS, cilt.86, ss.167, 2016 (SCI İndekslerine Giren Dergi) identifier

Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

HORMONE RESEARCH IN PAEDIATRICS, cilt.86, ss.175-176, 2016 (SCI İndekslerine Giren Dergi) identifier

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

HUMAN MOLECULAR GENETICS, cilt.24, sa.8, ss.2267-2273, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.164, sa.2, ss.291-304, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Three Patients Resembling Teebi-Shaltout Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.161, sa.10, ss.2570-2575, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.90, sa.4, ss.661-674, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.90, sa.1, ss.76-85, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Disruption of the ptpro gene causes childhood onset nephrotic syndrome

PEDIATRIC NEPHROLOGY, cilt.26, sa.9, ss.1578, 2011 (SCI İndekslerine Giren Dergi) identifier

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.89, sa.1, ss.139-147, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

NATURE GENETICS, cilt.43, sa.6, ss.601-607, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Marie Unna Hereditary Hypotrichosis: A Turkish Family With Loss of Eyebrows and a U2HR Mutation

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.10, ss.2628-2633, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Intracranial and Extracranial Malformations in Patients With Craniofacial Anomalies

JOURNAL OF CRANIOFACIAL SURGERY, cilt.21, sa.5, ss.1460-1464, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

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

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.86, sa.4, ss.551-559, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

ALX4 dysfunction disrupts craniofacial and epidermal development

HUMAN MOLECULAR GENETICS, cilt.18, sa.22, ss.4357-4366, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, cilt.105, sa.11, ss.4232-4236, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.12, ss.1308-1312, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Molecular and clinical analysis of Turkish patients with HLH

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.29, 2007 (SCI İndekslerine Giren Dergi) identifier

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

American journal of medical genetics. Part A, cilt.140, sa.20, ss.2155-62, 2006 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.4, ss.404-408, 2005 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, cilt.45, sa.7, ss.2218-2223, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.

Progress in neuro-psychopharmacology & biological psychiatry, cilt.28, sa.2, ss.255-66, 2004 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.73, sa.1, ss.49-62, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Male cells in female recipients of hematopoietic-cell transplants

NEW ENGLAND JOURNAL OF MEDICINE, cilt.347, sa.3, ss.219, 2002 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, cilt.99, sa.11, ss.7548-7553, 2002 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Hereditary intraosseous vascular malformation of the craniofacial region: An apparently novel disorder

AMERICAN JOURNAL OF MEDICAL GENETICS, cilt.109, sa.1, ss.22-35, 2002 (SCI İndekslerine Giren Dergi) identifier identifier identifier

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.9, sa.9, ss.653-658, 2001 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Autosomal recessive severe intraosseous hemangioma in the skull. A new syndrome?

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.67, sa.4, ss.57, 2000 (SCI İndekslerine Giren Dergi) identifier

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12

ARCHIVES OF OPHTHALMOLOGY, cilt.118, sa.8, ss.1090-1097, 2000 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36

AMERICAN JOURNAL OF MEDICAL GENETICS, cilt.87, sa.5, ss.399-406, 1999 (SCI İndekslerine Giren Dergi) identifier identifier identifier

A large family with type IV radial polydactyly

JOURNAL OF HAND SURGERY-BRITISH AND EUROPEAN VOLUME, sa.4, ss.530-533, 1998 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Mapping of the second locus of postaxial polydactyly type A (PAP-A2) to chromosome 13q21-q32.

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.61, sa.4, 1997 (SCI İndekslerine Giren Dergi) identifier

Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.

American journal of medical genetics, cilt.58, ss.18-20, 1995 (SCI İndekslerine Giren Dergi) identifier identifier identifier

GENETIC FEATURES OF RETINITIS-PIGMENTOSA IN TURKEY

DOCUMENTA OPHTHALMOLOGICA, cilt.89, sa.4, ss.387-392, 1995 (SCI İndekslerine Giren Dergi) identifier identifier identifier

THERAPEUTIC AND GENETIC-ASPECTS OF CONGENITAL GLAUCOMAS

INTERNATIONAL OPHTHALMOLOGY, cilt.16, ss.359-362, 1992 (SCI İndekslerine Giren Dergi) identifier

Therapeutical and genetical aspects of congenital glaucomas.

International ophthalmology, cilt.16, ss.359-62, 1992 (SCI Expanded İndekslerine Giren Dergi) identifier identifier

NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME

CLINICAL GENETICS, cilt.40, sa.5, ss.342-344, 1991 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

MOLECULAR GENETICS & GENOMIC MEDICINE, cilt.1, sa.4, ss.223-237, 2013 (ESCI İndekslerine Giren Dergi) identifier identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters

European Society of Human Genetics Virtual Conference, June 6-9, 2020., 6 - 09 Haziran 2020, cilt.28, ss.302

Plant-based milk alternative preference for children with cow milk protein allergy: Affecting factors and effect on nutritional status

European-Academy-of-Allergology-and-Clinical-Immunology Digital Congress (EAACI), London, Kanada, 6 - 08 Haziran 2020, cilt.75, ss.539-540 identifier

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

10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Kıbrıs (Kktc), 29 - 30 Haziran 2017

MULTICENTER RESULTS OF SCHWACHMAN-DIAMOND SYNDROME PATIENTS

22nd Congress of the European-Hematology-Association, Madrid, İspanya, 22 - 25 Haziran 2017, cilt.102, ss.704-705 identifier

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), California, Amerika Birleşik Devletleri, 3 - 06 Aralık 2016, cilt.128 identifier

A Hypomorphic Coronin-1A Mutation that Abolishes Oligomerization and Cytoskeletal Association Is Associated with Impaired CD4+T Cell Survival

16th Biennial Meeting of the European-Society-for-Immunodeficiencies (ESID), Prague, Çek Cumhuriyeti, 29 Ekim - 01 Kasım 2014, cilt.34 identifier

Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens

Annual Meeting of the American-Academy-of-Allergy-Asthma-and-Immunology (AAAAI), California, Amerika Birleşik Devletleri, 28 Şubat - 04 Mart 2014, cilt.133 identifier

Congenital hypertelorism & osteopenia, a novel autosomal recessive disease of development

16th Annual Conference of the International-Society-of-Development-Biologists, Edinburgh, Saint Helena, 6 - 10 Eylül 2009, cilt.126 identifier

Linkage analysis of a four generation herediter spherocytosis family with spectrin deficiency

7th European Cytogenetics Conference, Stockholm, İsveç, 4 - 07 Temmuz 2009, cilt.17, ss.79 identifier

The association of BDNF gene val66met polymorphism with the serum BDNF levels in drug-free depressed patients

21st Congress of the European-College-of-Neuropsychopharmacology, Barcelona, İspanya, 30 Ağustos - 03 Eylül 2008, cilt.18 identifier

Hunting the susceptibility gene for psychosis: A study of a family overloaded with different forms of psychotic disorders

16th Congress of the European-College-of-Neuropsychopharmacology, PRAGUE, Çek Cumhuriyeti, 20 - 24 Eylül 2003, cilt.13 identifier

A family overloaded with psychosis and rickets-alopecia syndrome challenges vitamin-D hypothesis for schizophrenia

16th Congress of the European-College-of-Neuropsychopharmacology, PRAGUE, Çek Cumhuriyeti, 20 - 24 Eylül 2003, cilt.13 identifier

Molecular characterization of pyrimidine 5 prime nucleotidase (P5N-1) deficiency: Identification of 3 novel mutations.

44th Annual Meeting of the American-Society-of-Hematology, PHILADELPHIA, PENNSYLVANIA, 6 - 10 Aralık 2002, cilt.100 identifier

Phenotype description of Van der Woude Syndrome (VWS) unlinked to chromosome 1 containing IRF6

52nd Annual Meeting of the American-Society-of-Human-Genetics, BALTIMORE, MARYLAND, 15 - 19 Ekim 2002, cilt.71, ss.285 identifier

Juvenile Hyalin Fibromatosis in three sibs from a consanguineous family: Clinical, histopathological and imminohistochemical findings

European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics, Strasbourg, Fransa, 25 - 28 Mayıs 2002, cilt.10, ss.121-122 identifier

Kitap & Kitap Bölümleri

YÜZ YARIKLARININ GENETİĞİ

DUDAK ve DAMAK YARIKLARI HACETTEPE EKİP YAKLAŞIMI, Fatma FİGEN ÖZGÜR, Arda KÜÇÜKGÜVEN, Editör, HEKİM TIP KİTABEVİ, Ankara, ss.518-523, 2020

The ALX Homeobox Gene Family and Frontonasal Dysplasias

Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3 ed.), Robert P. Erickson,Anthony J. Wynshaw-Boris, Editör, Oxford University Press, London , London, ss.747-752, 2016