Results 131 to 140 of about 4,066 (184)

Functional importance of novel nucleotide variations in the CYP21A2 gene

, 2016
Débora de Paula Michelatto
openalex   +1 more source

Duplications of the FunctionalCYP21A2Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect [PDF]

, 2009
Stephanie Kleinle, Rita Lang, Gottfried Fischer, H. Vierhapper, Franz Waldhauser, Manuela Födinger, Sabina Baumgartner‐Parzer   +6 more
openalex   +1 more source

Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS.

European Journal of Medical Genetics
Xiaoshan Yin, Yiming Lin, Ting Zhang, Haixia Miao, Lingwei Hu, Zhenzhen Hu, Dou Zhou, Benqing Wu, Xinwen Huang   +8 more
semanticscholar   +1 more source

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China. [PDF]

Int J Neonatal Screen
Wang X, Lu X, Zheng F, Lin K, Liao M, Dong Y, Chen T, He Y, Lu M, Chen J, Li Y, Zhou Y.   +11 more
europepmc   +1 more source

Predisposition for de Novo Gene Aberrations in the Offspring of Mothers with a Duplicated CYP21A2 Gene [PDF]

, 2006
Sabina Baumgartner‐Parzer, Gottfried Fischer, H. Vierhapper   +2 more
openalex   +1 more source

Genetic profiling of synchronous pituitary corticotroph adenomas. [PDF]

Pituitary
Zhang D, Tsai K, Santana C, Javaherian K, Lee M, Bergsneider M, Kim W, Wang MB, Vinters HV, Yan W, Heaney AP.   +10 more
europepmc   +1 more source

A CYP21A2 based whole-cell system in Escherichia coli for the biotechnological production of premedrol [PDF]

, 2015
Simone Brixius‐Anderko, Lina Schiffer, Frank Hannemann, Bernd Janocha, Rita Bernhardt   +4 more
openalex   +1 more source

Are carriers ofCYP21A2mutations less vulnerable to psychological stress? A population-based national cohort study

, 2016
Anna Nordenström, Agnieszka Butwicka, Angelica Lindén Hirschberg, Catarina Almqvist, Agneta Nordenskjöld, Henrik Falhammar, Louise Frisén   +6 more
openalex   +1 more source

Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics [PDF]

, 2011
Paola Concolino, Enrica Mello, Angelo Minucci, Cecilia Zuppi, Ettore Capoluongo   +4 more
openalex   +1 more source

Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype. [PDF]

Genes (Basel)
de Sousa Azulay RS, Facundo AN, Sousa SSE, Nascimento GC, Magalhães M, de Oliveira Neto CP, de Abreu JDMF, Lago DCF, da Silva Pereira Damianse S, de Carvalho VC, Nascimento CA, Rodrigues VP, Coeli-Lacchini FB, de Castro M, Dos Santos Faria M.   +14 more
europepmc   +1 more source