Výsledky vyhledávání - "S Ozemri, Sag"

Mutation status and immunohistochemical correlation of EGFR mutations in gastrointestinal stromal tumors

Autor: S Ozemri Sag, Sehime Gulsun Temel, Fevziye Kabukcuoglu, S. Kurt, Mahmut Cerkez Ergoren, Hanife Özkayalar, Gamze Mocan, B Yilmaz Ozguven, Gulten Tuncel, E. Cevik

Publikováno v: Balkan Journal of Medical Genetics, Vol 24, Iss 1, Pp 67-72 (2021)
Balkan Journal of Medical Genetics : BJMG

Being one of the leading causes of cancer deaths worldwide and their resistance to conventional treatment methods, made gastrointestinal stromal tumors (GISTs) one of the hot topics in medical research areas in the past decade. To investigate molecul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a64b449b858b063c6c83c0f8d02134f
https://doaj.org/article/725448a1f3424eb5857da28af2a37792

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Association between the catechol-o-methyltransferase val158met polymorphism with susceptibility and severity of carpal tunnel syndrome

Autor: S Ozemri Sag, E Erkol İnal, Tahsin Yakut, Gorukmez O, Pınar Eroğlu

Publikováno v: Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 43-48 (2015)

Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy of the upper extremity. In this study, we aimed to clarify the relationships between the catechol-O-methyltransferase (COMT) gene Val158Met (rs4680) polymorphism and development, f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d369ac392edd5d8150013c7d91c0a9
https://doi.org/10.1515/bjmg-2015-0085

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Akademický článek

MUTATION STATUS AND IMMUNOHISTOCHEMICAL CORRELATION OF EGFR MUTATIONS IN GASTROINTESTINAL STROMAL TUMORS.

Autor: H., Ozkayalar, M. C., Ergoren, G., Tuncel, S., Kurt, E., Cevik, S., Ozemri Sag, B., Yilmaz Ozguven, F., Kabukcuoglu, G., Mocan, Åž. G., Temel

Publikováno v: Balkan Journal of Medical Genetics; 2021, Vol. 24 Issue 1, p67-71, 5p

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MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM

Autor: O, Gorukmez, H, Aydin, S Ozemri, Sag, A, Kucukcongar, F M, Celayir

Publikováno v: Genetic counseling (Geneva, Switzerland). 26(2)

We present a 9 month-old baby girl with de novo pure interstitial duplication 1q. The girl has dysmorphic craniofacial features as well as neuromotor retardation, multiple subcutaneous solid tissue lesions, urogenital anomalies, cardiac defect, liver

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d1598d1699207a1d9677201998abb31a
https://pubmed.ncbi.nlm.nih.gov/26349187

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A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Autor: S Ozemri, Sag, O, Gorukmez, A, Topak, M, Ture, S, Sahinturk, T, Gulten, T, Yakut

Publikováno v: Genetic counseling (Geneva, Switzerland). 26(2)

Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::be87e907dd1e8d504eed7f5763f76eb1
https://pubmed.ncbi.nlm.nih.gov/26349192

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A fertile patient with 45X/47XXX mosaicism

Autor: S, Sahinturk, S, Ozemri Sag, M, Ture, O, Gorukmez, A, Topak, T, Yakut, T, Gulten

Publikováno v: Genetic counseling (Geneva, Switzerland). 26(1)

Turner syndrome (TS) is a sex chromosome abnormality with a frequency of 1/2,000-3,000 among female live births. Characteristic findings are short stature and gonadal dysgenesis. Short and webbed neck, low posterior hairline, broad chest, widespread

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6c34ee4c36534f490a0e978d7e098693
https://pubmed.ncbi.nlm.nih.gov/26043504

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A novel mutation in the FRAS1 gene in a patient with Fraser syndrome

Autor: S, Ozemri Sag, O, Gorukmez, M, Ture, S, Sahinturk, A, Topak, T, Gulten, D, Schanze, T, Yakut, M, Zenker

Publikováno v: Genetic counseling (Geneva, Switzerland). 26(1)

Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8e14861fea2606ca0443f97f5ee629cc
https://pubmed.ncbi.nlm.nih.gov/26043503

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