Results 41 to 50 of about 5,009 (204)

An oncocytic adrenal tumour in a patient with Birt‐Hogg‐Dubé syndrome [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106917/1/cen12292 ...
Caoili, Elaine M., Else, Tobias, Everett, Jessica N., Giordano, Thomas J., Gruber, Stephen B., Hammer, Gary D., Long, Jessica M., Raymond, Victoria M., Stoffel, Elena M.   +8 more
core   +1 more source

A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene

Heliyon
Molecular genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is challenging owing to the highly homologous with its pseudogene. A reliable approach for the large-scale population screening of CYP21A2 is required.
Juan Tan, Shuping Jin, Linxiang Huang, Binbin Shao, Yan Wang, Yuguo Wang, Jingjing Zhang, Min Su, Jianxin Tan, Qing Cheng, Zhengfeng Xu   +10 more
doaj   +1 more source

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. [PDF]

, 2015
Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that ...
al Kandari, Altmann, Arlt, Ben Charfeddine, Chan, Charmandari, Choi, Clark, Clark, Committee on Bioethics, Committee on Genetics, The American College of Medical Genetics and, Genomics Social, Ethical, Legal Issues Committee, Cooper, El-Khairi, Fang, Fromer, Gilissen, Helmberg, Hiort, Hughes, Hughes, Husebye, Jarvik, Joehrer, Lam, Lambert, Lee, Li, Lin, Meimaridou, Meimaridou, Merce Fernandez-Balsells, Metherell, Meynert, Miki, Miller, Mui, Ng, Ng, Ng, Novoselova, O’Rawe, Penhoat, Perry, Prasad, Rios, Robertson, Speiser, Sulonen, Tee, Thusberg, Wang, Wang   +50 more
core   +4 more sources

CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)

Hormone and Metabolic Research, 2013
The question of the contribution of CYP21A2 heterozygosity to the development of polycystic ovary syndrome (PCOS) has repeatedly been raised in the literature. The available data, however, do not offer a satisfactory answer. The discrepancy must be attributed, primarily, to the small number of subjects in the various studies, the type of selected ...
Settas, N., Dracopoulou-Vabouli, M., Dastamani, A., Katsikis, I., Chrousos, G., Panidis, D., Dacou-Voutetakis, C.   +6 more
openaire   +3 more sources

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia [PDF]

Molecular Genetics & Genomic Medicine, 2019
AbstractBackgroundCongenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype‐phenotype relationship.MethodsA large cohort of 212 Vietnamese ...
Vũ Chí Dũng, Thinh Huy Tran, Đức Hinh Nguyễn, Long Hoang Luong, Phuong Thi Le, Minh Hieu Ta, Huong Thi Thanh Ngo, Mai P. Nguyen, Tuan Pham Le-Anh, Dat Nguyen, The‐Hung Bui, Van Thanh Ta, Van Khanh Tran   +12 more
openaire   +2 more sources

Structure–phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia [PDF]

Proceedings of the National Academy of Sciences, 2013
Mutations in the cytochrome p450 (CYP)21A2 gene, which encodes the enzyme steroid 21-hydroxylase, cause the majority of cases in congenital adrenal hyperplasia, an autosomal recessive disorder. To date, more than 100 CYP21A2 mutations have been reported.
Haider, Shozeb, Islam, Barira, D'Atri, Valentina, Sgobba, Miriam, Poojari, Chetan, Sun, Li, Yuen, Tony, Zaidi, Mone, New, Maria   +8 more
openaire   +3 more sources

Adrenogenital syndrome: molecular mechanisms of development [PDF]

, 2017
Резюме. На довгому, багатоступінчастому шляху біосинтезу стероїдних гормонів від холестеролу до кортизолу, тестостерону й естрадіолу внаслідок мутацій генів виникає недостатність ферментів стероїдогенезу в надниркових залозах: холестерол-десмолази, 3β ...
Пішак, В.П., Ризничук, М.О.   +1 more
core   +1 more source

Disorders of sex development: challenges for the future [PDF]

, 2012
No abstract ...
Ahmed, Ahmed, Ahmed, Bashamboo, Camats, Ferraz-de-Souza, Hughes, Idkowiak, Kyriakie Sarafoglou, Ledig, Pasterski, Pearlman, S. Faisal Ahmed, Sarafoglou, Sarafoglou   +14 more
core   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency

Orphanet Journal of Rare Diseases
Background Molecular analysis of the CYP21A2 gene is highly important for understanding the aetiology of 21-hydroxylase deficiency (21-OHD). The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct ...
Yanjie Xia, Feng Yu, Ying Bai, Lili Jiang, Panlai Shi, Zhengwen Jiang, Xiangdong Kong   +6 more
doaj   +1 more source