Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Birsen Karaman"'
Autor:
Haşim Gezegen, İrem İlgezdi Kaya, Tuğba Kalaycı, Nermin Görkem Şirin, Birsen Karaman, Nerses Bebek, Betül Baykan
Publikováno v:
Archives of Epilepsy, Vol 30, Iss 1, Pp 31-35 (2024)
Ring chromosome 20 syndrome is a rare genetic disorder characterized by non-convulsive status epilepticus (NCSE) attacks, leading to prolonged confusional states of varying intensity. It is often accompanied by electroencephalography (EEG) changes, s
Externí odkaz:
https://doaj.org/article/5a51fe7004e54649a05d6df1989b50b9
Autor:
Aslı Derya Kardelen, Adam Najaflı, Firdevs Baş, Birsen Karaman, Güven Toksoy, Şükran Poyrazoğlu, Şahin Avcı, Umut Altunoğlu, Zehra Yavaş Abalı, Ayşe Pınar Öztürk, Esin Karakılıç Özturan, Seher Başaran, Feyza Darendeliler, Z. Oya Uyguner
Publikováno v:
JCRPE, Vol 15, Iss 4, Pp 338-347 (2023)
INTRODUCTION: Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of pituitary hormone deficiencies, suggesting a potential role for the PROK2 pathway in pituitary development, in addition to its role i
Externí odkaz:
https://doaj.org/article/18a4807ddfcf44a1a51a2d2bcc230afd
Autor:
Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 11, Pp n/a-n/a (2023)
Abstract The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anaemia. TTD‐associate
Externí odkaz:
https://doaj.org/article/00a4d41179d0455f867ed390b4be7d8b
Autor:
Asuman Gedikbasi, Guven Toksoy, Meryem Karaca, Cagri Gulec, Mehmet Cihan Balci, Dilek Gunes, Seda Gunes, Ayca Dilruba Aslanger, Gokcen Unverengil, Birsen Karaman, Seher Basaran, Mubeccel Demirkol, Gulden Fatma Gokcay, Zehra Oya Uyguner
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity. Clinical components are predominantly associated with pathogenic vari
Externí odkaz:
https://doaj.org/article/795cb8b594b04d13b3f30e2a251abb26
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
Autor:
Birsen Karaman, Hülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu, Seher Basaran
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)
Abstract Background Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra
Externí odkaz:
https://doaj.org/article/2b6a336a27d44a7bbd162771492870e6
Publikováno v:
F1000Research, Vol 8 (2019)
Infertility is an important health problem affecting 15% of couples worldwide. Intellectual disability (ID) is characterized with significant impairment of intellectual function, adaptive daily life skills and social skills. Insertion is a rare chrom
Externí odkaz:
https://doaj.org/article/8579ea9f0c5c4e17b801d781975a0902
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
Autor:
Gozde Tutku Turgut, Umut Altunoglu, Tugba Sarac Sivrikoz, Guven Toksoy, Tuğba Kalaycı, Şahin Avcı, Birsen Karaman, Cagri Gulec, Seher Başaran, Gözde Yeşil Sayın, Hulya Kayserili, Zehra Oya Uyguner
Publikováno v:
Clinical Genetics. 101:421-428
Multiple congenital contractures (MCC) comprise a number of rare, non-progressive conditions displaying marked phenotypic and etiologic heterogeneity. A genetic cause can be established in approximately half of the affected individuals, attributed to
Autor:
Özlem Anlaş, Akgün Ölmez, Birsen Karaman, Füsun Düzcan, Selçuk Yüksel, Funda Tümkaya, Gülseren Bağcı, Cavidan Nur Semerci Gündüz
Introduction: Chromosomal abnormalities are mostly found in 0.5–0.8% of live-born infants with developmental and morphological defects. Paracentric inversions are structural intrachromosomal rearrangements resulting in a risk of chromosomally unbal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44775954c4d013bbffa7cbf9014e6c8a
https://doi.org/10.1159/000527160
https://doi.org/10.1159/000527160