Results 111 to 120 of about 5,009 (204)

DIAGNOSIS OF ENDOCRINE DISEASE: Steroid Hormone Analysis in Diagnosis and Treatment of DSD Position Paper of EU COST Action BM 1303 "DSDnet". [PDF]

, 2017
Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis highly specialized laboratory analyses are required across European countries.
_ _, A Juul, A Kulle, A Saba, Ahmed, Eiden-Plach, G Schuler, Greaves, Greaves, Jones, Juniarto, Klein, Krone, M F Hartmann, Mendonca, Midgley, N Krone, Nguyen, O Hiort, P M Holterhus, Panteghini, Petri, R F Greaves, S A Wudy, Soeborg, Sturgeon, Walter, Wild, Wudy, Y B de Rijke   +29 more
core   +5 more sources

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

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

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

Expression of genes encoding mineralocorticoid biosynthetic enzymes and the mineralocorticoid receptor, and levels of mineralocorticoids in the bovine follicle and corpus luteum

The Journal of Reproduction and Development, 2019
Unlike sex steroids, mineralocorticoids have attracted limited attention in ovarian physiology. Recent studies on primates have indicated possible local synthesis and action of mineralocorticoids in the ovary.
Memory MUKANGWA, Koki TAKIZAWA, You AOKI, Seizo HAMANO, Masafumi TETSUKA   +4 more
doaj   +1 more source

Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS)

Egyptian Journal of Medical Human Genetics
Background 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease.
Natalia Osinovskaya, Elena Vashukova, Olga Tarasenko, Maria Danilova, Olga Glavnova, Iskender Sultanov, Maxim Donnikov, Yulia Nasykhova, Andrey Glotov   +8 more
doaj   +1 more source

Congenital adrenal hyperplasia: Diagnostic advances [PDF]

, 2018
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core   +1 more source

Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy [PDF]

, 2010
An intronic single nucleotide polymorphism (SNP) in the CYP3A5 gene (CYP3A5*3; SNP rs776746) affects RNA splicing and enzymatic activity. The CYP3A5*3 frequency increased with distance from the equator and natural selection has been proposed to explain ...
Alonso, Belén, Corao, A.I. (Ana), Coto, Eliecer, Díaz, Marta, López, Carlos, Marín, Rafael, Ortega, Francisco, Ortiz, Alberto, Ruiz-Ortega, Marta, Tavira, Beatriz, Álvarez, Victoria   +10 more
core  

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

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
openaire   +1 more source