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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 8, 2023. (Total: 223870Documents)
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Records 1 - 12 (of 12 Records)

Query Trace: Hyperplasia and CYP21A1P[original query]
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2003 Oct 36 (10): 1311-8.
Torres N, Mello M P, Germano C M R, Elias L L K, Moreira A C, Castro
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.
Molecular genetics and metabolism 2008 Apr 93 (4): 450-7.
Lee Hsien-Hsiung, Lee Yann-Jinn, Wang Yu-Mei, Chao Hsiang-Tai, Niu Dau-Ming, Chao Mei-Chyn, Tsai Fuu-Jen, Lo Fu-Sung, Lin Shio-Je
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
Molecular genetics and metabolism 2009 May 97 (1): 75-9.
Lee Yann-Jinn, Tsai Li-Ping, Niu Dau-Ming, Shu San-Ging, Chao Mei-Chyn, Lee Hsien-Hsiu
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
Clinical endocrinology 2011 Oct 75 (4): 427-35.
Marino Roxana, Ramirez Pablo, Galeano Jesica, Perez Garrido Natalia, Rocco Carlos, Ciaccio Marta, Warman Diana M, Guercio Gabriela, Chaler Eduardo, Maceiras Mercedes, Bergadá Ignacio, Gryngarten Mirta, Balbi Viviana, Pardes Esther, Rivarola Marco A, Belgorosky Alic
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.
Clinical endocrinology 2012 Feb .
Malikova J, Votava F, Vrzalova Z, Lebl J, Cinek O
Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.
The Journal of molecular diagnostics : JMD 2013 Nov 15 (6): 745-53.
Xu Zhi, Chen Wuyan, Merke Deborah P, McDonnell Nazli
A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Gene 2013 Sep 526 (2): 239-45.
Coeli-Lacchini Fernanda Borchers, Turatti Wendy, Elias Paula Conde Lamparelli, Elias Lucila Leico Kagohara, Martinelli Carlos Eduardo, Moreira Ayrton Custodio, Antonini Sonir Roberto, de Castro Margar
Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
Journal of endocrinological investigation 2015 Aug .
Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic
Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
Gene 2018 11 687 30-34.
Jayakrishnan Rahul, Lao Qizong, Adams Sharon D, Ward William W, Merke Deborah
p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche.
International journal of endocrinology 2020 7 2020 4329791.
Soveizi Mahdieh, Mahdieh Nejat, Setoodeh Aria, Sayarifard Fatemeh, Abbasi Farzaneh, Bose Himangshu S, Rabbani Bahareh, Rabbani A
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
Molecular biology reports 2020 3 47 (4): 3049-3052.
Concolino Pao
Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X.
Genes 2023 2 14 (2): .
Lao Qizong, Zhou Kiet, Parker Megan, Faucz Fabio R, Merke Deborah
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