Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes
Kırkgöz, Tarık, Gürsoy, Semra, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Anıl Korkmaz, Hüseyin, Hazan, Filiz, Özkan, Behzat
Published in Archives of Endocrinology and Metabolism (10.11.2023)
Published in Archives of Endocrinology and Metabolism (10.11.2023)
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Journal Article
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
Gürsoy, Semra, Hazan, Filiz, Aykut, Ayça, Nalbantoğlu, Özlem, Korkmaz, Hüseyin Anıl, Demir, Korcan, Özkan, Behzat, Çoğulu, Özgür
Published in Journal of clinical research in pediatric endocrinology (25.11.2020)
Published in Journal of clinical research in pediatric endocrinology (25.11.2020)
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Journal Article
A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis
Kırkgöz, Tarık, Özkan, Behzat, Hazan, Filiz, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Kulalı, Melike Ataseven, Gürsoy, Semra, Ikegawa, Shiro, Guo, Long
Published in Frontiers in genetics (24.06.2022)
Published in Frontiers in genetics (24.06.2022)
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Journal Article
Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants
Hazan, Filiz, Gürsoy, Semra, Unalp, Aycan, Yılmaz, Unsal, Demirağ, Bengü, Aydin Köker, Sultan, Ozyılmaz, Berk, Erdogan, Kadri Murat, Kalenderer, Önder, Erkuş, Serkan, Gürçınar, Müge, Tükün, Ajlan
Published in Neurological sciences (01.05.2021)
Published in Neurological sciences (01.05.2021)
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Journal Article
Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation
Nalbantoğlu, Özlem, Arslan, Gülçin, Köprülü, Özge, Hazan, Filiz, Gürsoy, Semra, Özkan, Behzat
Published in Journal of clinical research in pediatric endocrinology (01.12.2019)
Published in Journal of clinical research in pediatric endocrinology (01.12.2019)
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Journal Article
Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study
Gursoy, Semra, Hazan, Filiz, Zihni, Cuneyt, Acar, Sezer, Yilmazer, Murat Muhtar, Mese, Timur, Ozkan, Behzat
Published in The journal of pediatric research (01.09.2021)
Published in The journal of pediatric research (01.09.2021)
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Journal Article
Do microdeletions lead to immune deficiency?
Karaman, Sait, Hazan, Filiz, Erdem, Semiha Bahçeci, Gülez, Nesrin, Genel, Ferah
Published in Central-European journal of immunology (01.01.2020)
Published in Central-European journal of immunology (01.01.2020)
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Journal Article
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants
Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea
Published in PloS one (27.07.2012)
Published in PloS one (27.07.2012)
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Journal Article
Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents
Tunç, Selma, Demir, Korcan, Tükün, Fatma Ajlan, Topal, Cihan, Hazan, Filiz, Sağlam, Burcu, Nalbantoğlu, Özlem, Yıldız, Melek, Özkan, Behzat
Published in Journal of clinical research in pediatric endocrinology (01.09.2017)
Published in Journal of clinical research in pediatric endocrinology (01.09.2017)
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Journal Article
Sarcolemmal Alpha and Gamma Sarcoglycan Protein Deficiencies in Turkish Siblings With a Novel Missense Mutation in the Alpha Sarcoglycan Gene
Diniz, Gulden, MD, PhD, Tosun Yildirim, Hulya, MD, Akinci, Gulcin, MD, Hazan, Filiz, MD, Ozturk, Aysel, MD, Yararbas, Kanay, MD, Tukun, Ajlan, MD, PhD
Published in Pediatric neurology (01.06.2014)
Published in Pediatric neurology (01.06.2014)
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Journal Article
A case of Turner syndrome with concomitant transient hypogammaglobulinaemia of infancy and central diabetes insipidus
Korkmaz, Hüseyin Anıl, Özkan, Behzat, Hazan, Filiz, Büyükinan, Muammer, Çelik, Tanju
Published in Journal of clinical research in pediatric endocrinology (01.01.2013)
Published in Journal of clinical research in pediatric endocrinology (01.01.2013)
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Journal Article
Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene
Tosun Yildirim, Hulya, Serdaroglu, Gul, Diniz, Gulden, Tukun, Ajlan, Yararbas, Kanay, Hazan, Filiz, Gokben, Sarenur
Published in Case reports in genetics (01.01.2014)
Published in Case reports in genetics (01.01.2014)
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Journal Article
A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall–Smith syndrome and Malan syndrome
Uzman, Ceren Yılmaz, Gürsoy, Semra, Hazan, Filiz
Published in International journal of developmental neuroscience (01.08.2023)
Published in International journal of developmental neuroscience (01.08.2023)
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Journal Article
Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing
Nalbantoğlu, Özlem, Hazan, Filiz, Acar, Sezer, Gürsoy, Semra, Özkan, Behzat
Published in Journal of Pediatric Endocrinology & Metabolism (26.08.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (26.08.2022)
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Journal Article
A rare case of skeletal dysplasia: biallelic variant in ACAN gene
Arslan, Gülçin, Hazan, Filiz, Tabanlı, Gülin, Kırkgöz, Tarık, Özkan, Behzat
Published in Journal of Pediatric Endocrinology and Metabolism (20.09.2024)
Published in Journal of Pediatric Endocrinology and Metabolism (20.09.2024)
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Journal Article
Genetic and clinical characteristics of Turkish children with Maturity Onset Diabetes of the Young Type 2 (MODY2): A single center experience
NALBANTOĞLU, Özlem, GÜRSOY, Semra, KIRKGÖZ, Tarık, HAZAN, Filiz, ÖZKAN, Behzat
Published in Interdisciplinary Medical Journal (30.04.2023)
Published in Interdisciplinary Medical Journal (30.04.2023)
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Journal Article
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
Koehler, Katrin, Milev, Miroslav P., Prematilake, Keshika, Reschke, Felix, Kutzner, Susann, Jühlen, Ramona, Landgraf, Dana, Utine, Eda, Hazan, Filiz, Diniz, Gulden, Schuelke, Markus, Huebner, Angela, Sacher, Michael
Published in Journal of medical genetics (01.03.2017)
Published in Journal of medical genetics (01.03.2017)
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Journal Article
Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development
Kırkgöz, Tarık, Gürsoy, Semra, Acar, Sezer, Köprülü, Özge, Özkaya, Beyhan, Arslan, Gülçin, Nalbantoğlu, Özlem, Hazan, Filiz, Özkan, Behzat
Published in Journal of Pediatric Endocrinology and Metabolism (25.06.2024)
Published in Journal of Pediatric Endocrinology and Metabolism (25.06.2024)
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Journal Article
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
Gürsoy, Semra, Hazan, Filiz, Öztürk, Tülay, Ateş, Halil
Published in Molecular syndromology (01.01.2020)
Published in Molecular syndromology (01.01.2020)
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Journal Article