Mostrando 10 resultados de: 43
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Journal of Clinical Endocrinology and Metabolism(10)
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scopus(43)
46,XX DSD: The masculinised female
ReviewAbstract: The 46,XX disorders of sex development (DSDs) cause virilisation or masculinisation of the female foPalabras claves:46,XX DSD, Adrenal gland, androgen, Congenital adrenal hyperplasia, steroidogenesis, VirilisationAutores:Chang A.Y., Richard J. AuchusFuentes:scopusA high rate of novel CYP11B1 mutations in Saudi Arabia
ArticleAbstract: Despite ethnic variation, 11 β-hydroxylase deficiency (11β-OHD) has generally been considered the sePalabras claves:Ambiguous genitalia, Congenital adrenal hyperplasia, CYP11B1, MutationsAutores:Al-Sagheir A., Alhomaidah D., Alswailem M., Alzahrani A., Alzahrani O., Bin-Abbas B., Capper C.P., Murugan A., Qasem E., Richard J. AuchusFuentes:scopusA homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): Insights into the pathophysiology of HGPS
ArticleAbstract: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by aPalabras claves:Aging disorder, HGPS, Hutchinson-Gilford progeria syndrome, Lamin A, LMNA, Mandibuloacral dysplasia, Nuclear lamina, ZMPSTE24Autores:Agarwal A.K., Brune T., Denecke J., Feldhaus T., Kranz C., Marquardt T., Richard J. Auchus, Robenek H.Fuentes:scopusA novel point mutation in P450c17 (CYP17) causing combined 17α-hydroxylase/17,20-lyase deficiency
ArticleAbstract: Context: Combined 17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperPalabras claves:Autores:Achermann J.C., Ahmad T., Brooke A.M., Gore M.E., Lin L., Monson J.P., Papari-Zareei M., Richard J. Auchus, Rumsby G., Shepherd J.H., Taylor N.F.Fuentes:scopusCombined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patien
ArticleAbstract: Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rarePalabras claves:Autores:Costenaro F., Czepielewski M., Kater C.E., Papari-Zareei M., Richard J. Auchus, Rodrigues T.Fuentes:scopusAnalysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review
ArticleAbstract: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder characterized by severePalabras claves:Aldosterone synthesis, CYP11B2 mutations, Hypoaldosteronism, next-generation sequencingAutores:Chen S., Gong F., Jiang J., Liu J., Lu L., Lu Z., Miao H., Pan H., Richard J. Auchus, Yu Z., Zhu H.Fuentes:scopusCYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding
ArticleAbstract: Cytochrome P450c17 (CYP17) converts the C21 steroids pregnenolone and progesterone to the C19 androgPalabras claves:Autores:Hochberg Z., Kwist K.W., Richard J. Auchus, Sherbet D.P., Tiosano D.Fuentes:scopusCYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
ArticleAbstract: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenitalPalabras claves:Autores:Chao M.C., Chen H.C., Holterhus P.M., Hung C.C., Hwang D.Y., Hwang S.J., Kulle A.E., Kuo M.C., Richard J. Auchus, Riepe F.G.Fuentes:scopusAldosterone Synthase Promoter Polymorphism and Cardiovascular Phenotypes in a Large, Multiethnic Population-Based Study
ArticleAbstract: Background A single-nucleotide polymorphism in the aldosterone synthase gene (CYP11B2) promoter [-34Palabras claves:aldosterone, Genetics, glucose, Hypertension, left ventricular massAutores:Byrd J.B., Richard J. Auchus, White P.C.Fuentes:scopusEffect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cells
ArticleAbstract: Context: Primary aldosteronism is a heterogeneous disease that includes both sporadic and familial fPalabras claves:Autores:Bollag R.J., Cicala M.V., Edwards M.A., Ghayee H.K., Giri J.G., Hattangady N.G., Isales C.M., Kurihara I., Mantero F., Monticone S., Nishimoto K., Pezzani R., Rainey W.E., Richard J. Auchus, Rubin B., Shibata H., Williams T.A.Fuentes:scopus