Výsledky vyhledávání - "Volkan Karaman"

Akademický článek

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Autor: Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendeliler

Publikováno v: JCRPE, Vol 14, Iss 2, Pp 153-171 (2022)

INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the de

Externí odkaz: https://doaj.org/article/860a70dc14c9409aacfb6b3de305c261

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Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome

Autor: G. Tutku Turgut, Ibrahim Halil Kalelioglu, Volkan Karaman, Tugba Sarac Sivrikoz, Birsen Karaman, Zehra Oya Uyguner, Tugba Kalayci

Publikováno v: Molecular Syndromology. 14:152-157

Introduction: GDF5-BMPR1B signaling pathway-associated chondrodysplasias are a genetically heterogeneous group of conditions with significant phenotypic and genotypic overlap, consisting of Hunter-Thompson-type acromesomelic dysplasia, Grebe dysplasi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::00a17eeebae6b8f2d8f1029785b7a277
https://doi.org/10.1159/000527955

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Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

Autor: Tugba Sarac Sivrikoz, Tugba Kalayci, Leyli Senturk, Volkan Karaman, Ibrahim Halil Kalelioglu, Recep Has, Hulya Kayserili, Zehra Oya Uyguner, Gen Nishimura, Umut Altunoglu

Publikováno v: Prenatal diagnosisREFERENCES. 42(12)

Blomstrand osteochondrodysplasia (BOCD, MIM #215045) is an ultrarare lethal skeletal dysplasia (LSD) perinatally, characterized by extremely advanced bone maturation, generalized osteosclerosis, and severe tetramicromelia caused by biallelic loss-of-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce4886e906857e5537eecdb56bf87b44
https://pubmed.ncbi.nlm.nih.gov/35808914

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Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

Autor: Elif Yilmaz Gulec, Gozde Tutku Turgut, Alper Gezdirici, Volkan Karaman, Fatma Nihal Ozturk, Sahin Avci, Tugba Kalayci, Leyli Senturk, Akif Ayaz, Hulya Kayserili, Zehra Oya Uyguner, Umut Altunoğlu

Publikováno v: Clinical geneticsREFERENCES. 102(3)

Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is mainly associated with CRLF1 a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de1a1aae4a63a14374e90592c998b7e
https://pubmed.ncbi.nlm.nih.gov/35699517

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Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

Autor: Hülya Kayserili, Dilek Uludağ Alkaya, Sukru Palanduz, Ercan Mihci, Nilay Güneş, Banu Güzel Nur, Elifcan Taşdelen, Güven Toksoy, Sukru Ozturk, Tugba Kalayci, Zehra Oya Uyguner, Zuhal Bayramoglu, Beyhan Tüysüz, Umut Altunoglu, Leyla Elkanova, Ezgi Gizem Berkay, Volkan Karaman, Kivanc Cefle

Publikováno v: American Journal of Medical Genetics Part A. 185:2488-2495

Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3cdc5099a357ca74e90954c1da84212b
https://doi.org/10.1002/ajmg.a.62261

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Mutations in

Autor: Neşe, Akcan, Oya, Uyguner, Firdevs, Baş, Umut, Altunoğlu, Güven, Toksoy, Birsen, Karaman, Şahin, Avcı, Zehra, Yavaş Abalı, Şükran, Poyrazoğlu, Agharza, Aghayev, Volkan, Karaman, Rüveyde, Bundak, Seher, Başaran, Feyza, Darendeliler

Publikováno v: Journal of clinical research in pediatric endocrinology. 14(2)

Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ede2954beb6cccd6834825dbced44999
https://pubmed.ncbi.nlm.nih.gov/35135181

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Ovarian and paraovarian adrenal rest tumors are not uncommon in gonadectomy materials of historical congenital adrenal hyperplasia cases in childhood

Autor: Melek Yildiz, Aysel Bayram, Firdevs Bas, Volkan Karaman, Guven Toksoy, Sukran Poyrazoglu, Feryal Gun Soysal, Semen Onder, Zehra Oya Uyguner, Feyza Darendeliler

Publikováno v: European journal of endocrinology. 187(1)

Objective The aim of this study was to assess the prevalence of ovarian and paraovarian adrenal rest tumors (ARTs) in gonadectomy materials of a subgroup of congenital adrenal hyperplasia (CAH) patients. Methods A total of 20 historical cases with cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f9cb2590a1c1c8421d3cadcda913e6
https://pubmed.ncbi.nlm.nih.gov/35550562

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Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene

Autor: Volkan Karaman, Feyza Darendeliler, Berrin Ergun-Longmire, Zehra Oya Uyguner, Rüveyde Bundak, Birsen Karaman, Seher Başaran, Zehra Yavas Abali, Sukran Poyrazoglu, Güven Toksoy, Sahin Avci, Umut Altunoglu, Firdevs Bas

Publikováno v: The Journal of steroid biochemistry and molecular biology. 181

Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11BOHD) is a rare autosomal recessive disorder and the second most common form of CAH. Aim To investigate genotype-phenotype correlation and to evaluate clinical characteristics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c7bb201d922d5086b6539c8533a5e5
https://pubmed.ncbi.nlm.nih.gov/29626607

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