Results 91 to 100 of about 2,980 (198)

SUN-204 Case of Non-Classic Congenital Adrenal Hyperplasia with Compound CYP21A2 Mutations Combined with CYP11B1 Mutation [PDF]

, 2020
Rami Salameh, Janna Prater
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Análisis de variantes génicas en el gen CYP21A2

, 2019
Congenital Adrenal Hyperplasia (CAH) constitutes a series of autosomal recessive disorders in which adrenal steroidogenesis is affected. In 95% of the cases, CAH is caused by 21-hydroxylase deficiency. This deficit can be severe (classical form), with two clinical forms, salt wasting (SW) and simple virilizing (SV), or be mild or non-classical (NC ...
openaire   +3 more sources

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing [PDF]

, 2017
Fernanda A. Correa, Marcela M. França, Qing Fang, Qianyi Ma, Tânia A.S.S. Bachega, Andresa De Santi Rodrigues, Bilge A. Ozel, Jun Z. Li, Berenice B. Mendonça, Alexander A.L. Jorge, Luciani R. Carvalho, Sally A. Camper, Ivo J.P. Arnhold   +12 more
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The Spectrum of CYP21A2 Gene Mutations from 16 Families of Congenital Adrenal Hyperplasia: Genotype-Phenotype Correlation

, 2021
Subbiah Sridhar, Ramajayam Govindhan, Balasankar Soundian, Maheshkumar Poomarimuthu, Karuppasamy Nallan, Santhanakrishnan Ramesh kumar, Subbiah Eagappan, Vasanthiy Natarajan, Sangumani Jayaraman   +8 more
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Genetics of 21-OH Deficiency and Genotype–Phenotype Correlation: Experience of the Hellenic National Referral Center

Current Issues in Molecular Biology
21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) due to CYP21A2 gene pathogenic variants. Τhe aim of this study was the identification of CYP21A2 variants in 500 subjects of Greek origin with a ...
Irene Fylaktou, Anny Mertzanian, Ioanna Farakla, Alexandros Gryparis, Ioannis Anargyros Vasilakis, Maria Binou, Evangelia Charmandari, Christina Kanaka-Gantenbein, Amalia Sertedaki   +8 more
doaj   +1 more source

Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts [PDF]

, 2021
Vanita Berry, Nikolas Pontikos, Alex Ionides, Angelos Kalitzeos, Roy A. Quinlan, Michel Michaelides   +5 more
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Comprehensive Genetic Testing of CYP21A2

The most common form of congenital adrenal hyperplasia (CAH) results from a deficiency of the 21-hydroxylase enzyme (21-OHD), presenting with a broad spectrum of clinical phenotypes according to the CYP21A2 gene mutations. Of the 59 patients with suspected CAH, 62.7% presented a positive genetic result.
Nan, Madalina Nicoleta, Roig, Rosa||, Martínez Figueroa, Susana||, Rives, Jose, Urgell, Eulàlia||, Espinós, Juan José||, Tirado Capistros, Mireia||, Carreras, Gemma||, Aulinas, Anna||, Webb, Susan||, Corcoy i Pla, Rosa||, Blanco Vaca, Francisco||, Tondo, Mireia||   +12 more
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Konjenital Adrenal Hiperplazi Vakalarında CYP21A2 Geni Kopya Sayısı Değişimlerinin MLPA Tekniği İle İncelenmesi

, 2020
Bakhtiyar Mammadov, Aysel Kalaycı Yiğin, Filiz Özdemir, Ahmet Özaydın, Mehmet Seven   +4 more
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CYP21A2 Gene [PDF]

, 2020
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CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function [PDF]

, 2022
Tina Schubert, Nicole Reisch, Ronald Naumann, Ilka Reichardt, Dana Landgraf, Friederike Quitter, Shamini Ramkumar Thirumalasetty, Anne‐Kristin Heninger, Mihail Sarov, Mirko Peitzsch, Angela Huebner, Katrin Koehler   +11 more
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