Results 131 to 140 of about 6,020 (257)

Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia

Clinical Endocrinology, Volume 100, Issue 6, Page 515-526, June 2024.
Abstract Objective To investigate the metabolic, cardiovascular, and neuropsychological phenotype, quality of life (QoL), and hormonal regulation in individuals with congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders characterized by impaired synthesis of cortisol in the adrenal cortex and, if untreated compensatory ...
Lukas Ochsner Ridder, Camilla Mains Balle, Anne Skakkebæk, Marie Lind‐Holst, Mette Mølby Nielsen, Pernille Hermann, Stinus Hansen, Dorte Guldbrand Nielsen, Sine Knorr, Niels Holmark Andersen, Mette Hansen Viuff, Agnethe Berglund, Claus Højbjerg Gravholt   +12 more
wiley   +1 more source

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

Journal of Biomedical Science, 2009
Background Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and ...
Varma R Raveendra, Saravanan Chinnaraj, Anwaruddin Mohammad, Idicula-Thomas Susan, Dubey Sudhisha, Maitra Anurupa   +5 more
doaj   +1 more source

Hiperplasia congénita da supra-renal não clássica (hcsr-nc) por deficiência de 21-hidroxilase: avaliação clínica e aconselhamento genético de duas famílias portuguesas [PDF]

, 2016
Introdução: A hiperplasia congénita da supra renal surge por deficiência de 21-hidroxilase em 90-95% dos casos. É uma das doenças hereditárias de transmissão autossómica recessiva mais frequente.
Antunes, Diana, Castelo Branco, Sara, Gomes, Susana, Gonçalves, João, Kay, Teresa, Lopes, Lurdes, Matos, Lurdes Godinho, Pereira-Caetano, Iris   +7 more
core  

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

, 2022
Background: Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease.
Berry, V, Ionides, A, Kalitzeos, A, Michaelides, M, Pontikos, N, Quinlan, RA   +5 more
core  

Molecular analysis of the CYP21A2 gene in dried blood spot samples.

Medicina, 2020
Fil: Dratler, Gustavo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P.
Marino, Silvia, Perez Garrido, Natalia, Ramírez, Pablo, Pujana, Matías, Dratler, Gustavo, Belgorosky, Alicia, Marino, Roxana   +6 more
openaire   +3 more sources

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples

Clinical and Translational Medicine, Volume 14, Issue 11, November 2024.
Xulong Ding, Miao Jiang, Qin Hu, Ruiqing Tong, Lin Wang, Jinxing Lv, Ling Pan, Jianquan Hou, Jun He, Peng Zhou   +9 more
wiley   +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  

Spectrum of molecular alterations detected in the CYP21A2 gene associated with 21-hydroxylase deficiency [PDF]

, 2018
A maioria dos doentes com hiperplasia suprarrenal congénita (HSC) apresenta alterações moleculares no gene CYP21A2, o qual codifica a enzima 21-hidroxilase (21-OH).
Amaral, Daniela, Antunes, Diana, Berta, Ana, Cardoso, Helena, Cardoso, Rita, Carvalho, Inês, Dinis, Isabel, Gaspar, Isabel, Gomes, Susana, Gonçalves, João, Kay, Teresa, Limbert, Catarina, Lopes, Maria Lurdes, Mirante, Alice, Moldovan, Oana, Pereira, Carla, Pereira-Caetano, Iris, Pina, Rosa, Ramos, Fabiana, Ramos, Lina, Rebelo, Irene, Rodrigues, José Cidade, Sampaio, Lurdes   +22 more
core  

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche. [PDF]

, 2011
ObjectivePremature pubarche (PP) is the most frequent sign of nonclassic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency in childhood.
Cappa, M, Carta, D, Di Iorgi, N, Gasco, V, Ghizzoni, L, Ibba, A, Loche, S, Maghnie, M, Marchesi, M, Massimi, A, Napoli, F, Porzio, O, Raggi, V, Ubertini, G, Vottero, A   +14 more
core   +2 more sources

Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines

Molecular Genetics and Metabolism Reports, 2014
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 in 15,000 births in the United States. CAH is one of the disorders included on the Newborn Screening (NBS) Recommended Uniform Screening Panel.
Christopher N. Greene, Suzanne K. Cordovado, Daniel P. Turner, Lisa M. Keong, Dorothy Shulman, Patricia W. Mueller   +5 more
doaj   +1 more source