Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Ceren D. Durmaz"'
Autor:
Atil Bisgin, Sebnem Ozemri Sag, Muhammet E. Dogan, Mahmut S. Yildirim, Aydeniz Aydin Gumus, Nejmiye Akkus, Ozgur Balasar, Ceren D. Durmaz, Recep Eroz, Sule Altiner, Adem Alemdar, Lamia Aliyeva, Ibrahim Boga, Fethi S. Cam, Berkcan Dogan, Onur Esbah, Abdullah Hanta, Cem Mujde, Cemre Ornek, Sinem Ozer, Cagla Rencuzogullari, Ozge Sonmezler, Sevcan Tug Bozdogan, Munis Dundar, Sehime G. Temel
Publikováno v:
Breast, Vol 65, Iss , Pp 15-22 (2022)
BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identif
Externí odkaz:
https://doaj.org/article/e63eea3f85294bbebe3b5c247e16a423
Autor:
Emel Okulu, Ceren D. Durmaz, Gaffari Tunc, Adil Guzel, Nuket Y. Kutlay, Omer Erdeve, Begum Atasay, John A. McGrath, Lu Liu, Saadet Arsan
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
Abstract Background Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or comp
Externí odkaz:
https://doaj.org/article/d4af0db2796a49aeafe4c87286cb66a0
Autor:
Nuket Yurur Kutlay, Lu Liu, Begüm Atasay, Ceren D. Durmaz, Gaffari Tunç, Saadet Arsan, John A. McGrath, Omer Erdeve, Emel Okulu, Adil Guzel
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
Okulu, E, Durmaz, C D, Tunc, G, Guzel, A, Kutlay, N Y, Erdeve, O, Atasay, B, McGrath, J A, Liu, L & Arsan, S 2020, ' A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita ', Egyptian Journal of Medical Human Genetics, vol. 21, 16 . https://doi.org/10.1186/s43042-020-00055-7
Okulu, E, Durmaz, C D, Tunc, G, Guzel, A, Kutlay, N Y, Erdeve, O, Atasay, B, McGrath, J A, Liu, L & Arsan, S 2020, ' A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita ', Egyptian Journal of Medical Human Genetics, vol. 21, 16 . https://doi.org/10.1186/s43042-020-00055-7
Background Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound hete
Autor:
Halil Gürhan Karabulut, Zehra Akkaya, Murat Torgutalp, Denise Horn, Wenke Seifert, Ceren D. Durmaz, Murat Turgay
Publikováno v:
Cytogenetic and Genome Research. 158:126-132
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show
Publikováno v:
Fetal and pediatric pathology. 40(5)
Background: The 17q22 contiguous microdeletion syndrome is a recently described chromosomal disorder. Clinical features are heterogeneous because of variable deletion sizes. Clinical report: We present a child with delayed psychomotor development, dy
Autor:
Aylin Okçu Heper, Seçil Vural, Ruhi H. Ilgın, John A. McGrath, Pelin Ertop, Ezgi Gökpınar İli, Ayşe Boyvat, Ceren D. Durmaz
Publikováno v:
International journal of dermatologyReferences. 59(7)
Background Epidermolysis bullosa pruriginosa (EBP) is rare a clinical variant of dystrophic epidermolysis bullosa characterized by trauma-induced bullae formation, milia and nail dystrophy accompanied by severe pruritus. Treatment pruritus of EBP foc
Publikováno v:
Cytogenetic and Genome Research. 154:57-61
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused
Publikováno v:
Cytogenetic and Genome Research. 154:181-186
Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ODDD is caused by mutations in the GJA1 gene in chromosome 6q22 and inherited in an autosomal d
Autor:
Nihal Kundakci, Halil Gürhan Karabulut, Ceren D. Durmaz, Hatice Ilgın Ruhi, Seçil Vural, Hatice Sanli, Pelin Ertop, Aylin Okçu Heper
Publikováno v:
Cytogenetic and Genome Research. 151:186-190
H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated s
Autor:
Emanuele G. Coci, Patricia C. M. O’Brien, Halil Gürhan Karabulut, Aylin Okçu Heper, Andrea Auhuber, Cecilia Surace, Valeria Orlando, Viola Alesi, Eva B. Athanasopoulou, Elena Rossi, Silvia Genovese, Claus Steinlein, Juan A. Marchal, Edivaldo Herculano Corrêa de Oliveira, Hatice Ilgın Ruhi, Fabrizia Restaldi, Lisa De Lorenzi, Antonio Novelli, Joachim Riedel, Hatice Sanli, Stefania Bonacina, Analía Del Valle Garnero, Tiago Marafiga Degrandi, Nihal Kundakci, Sara Loddo, Pelin Ertop, Satz Mengensatzproduktion, Maria Cristina Digilio, Antonio Sánchez, Alessandra Iannuzzi, I. Romero-Fernández, Malcolm A. Ferguson-Smith, Bruno Dallapiccola, Pietro Parma, Ceren D. Durmaz, Andreas Leenen, María Arroyo, Thomas Liehr, Thomas Lücke, Seçil Vural, Elisa Pisaneschi, Rafael Kretschmer, Maria Lisa Dentici, Druckerei Stückle, Michail Rovatsos, Kristin Mrasek, Michael Schmid, Daniele Pompili, Anna Langenbach, Ricardo José Gunski
Publikováno v:
Cytogenetic and Genome Research. 151:I-IV