Inventaire - i tuoi amici e le tue comunità sono la tua biblioteca

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

autore

Jan Idkowiak

Nils Krone

Wiebke Arlt

Cedric H L Shackleton

Shelly Nielsen

Vivek Dhir

Beverly A Hughes

Hannah E Ivison

Ann Haskins Olney

pubblicato in: The Journal of Clinical Endocrinology and Metabolism

data di pubblicazione: 2013-01-30

lingua: inglese

argomento principale: malattia congenita, diagnosi, iperplasia surrenale congenita

Cita articoli 38

Data

Titolo

Autori

2011-12-07

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Maria Szarras-Czapnik, Jan Idkowiak, Deborah Cragun, Robert J. Hopkin, Nils Krone, Wiebke Arlt, Mehul T Dattani
2010-12-29

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Maria Szarras-Czapnik, Jan Idkowiak, Nils Krone, Wiebke Arlt, Mehul T Dattani, Michiel N Kerstens, Cedric H L Shackleton
2010-04-21

Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche

Maria Szarras-Czapnik, Jan Idkowiak, Nils Krone, Wiebke Arlt, Ieuan Hughes, Cedric H L Shackleton, Vivek Dhir
2009-01-01

The ability of the quadruple test to predict adverse perinatal outcomes in a high-risk obstetric population
2009-04-01

Genetics of congenital adrenal hyperplasia.

Nils Krone, Wiebke Arlt
2009-02-01

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

David Rimoin, Ralph S. Lachman
2009-03-03

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients

Masanori Adachi, Reiko Horikawa
2009-08-01

Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies.

Josep Marcos
2009-05-21

Down syndrome screening in the United States in 2001 and 2007: a survey of maternal-fetal medicine specialists

Anne-Marie Prabulos
2008-03

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

John C. Achermann
2007-10

Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase

Amit V. Pandey
2007-02-01

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

Nils Krone, Wiebke Arlt, Vivek Dhir, Hannah E Ivison
2007-01-02

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function

Pascal Philibert, Bruno Ferraz-de-Souza, Neil J. Sebire, J. Larry Jameson, John C. Achermann, Gerard S Conway, Ieuan Hughes, Mehul T Dattani, Daniel Kelberman
2007-09-01

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)

Josep Marcos
2007-05-15

Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P

Nils Krone, Wiebke Arlt, Cedric H L Shackleton, Vivek Dhir, Hannah E Ivison
2006-01-03

Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene

Yael Lebenthal, Naomi Weintrob, Mordechai Shohat, Ellen Taub
2005-05

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

Amit V. Pandey, Ethylin Wang Jabs, Vishal Agrawal, Guy Van Vliet
2005-08-01

Quad screen as a predictor of adverse pregnancy outcome.

Lisa M. Sullivan, Ilan E. Timor-Tritsch, George Saade, John C. Hobbins, Sabrina Craigo, Mary D'Alton, Fergal D. Malone, Christine H. Comstock, Lorraine Dugoff, Honor M. Wolfe
2005-04-01

Adrenal hypoplasia congenita: four new cases in children
2004-08-30

Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype

Josep Marcos, Wiebke Arlt, Berthold P Hauffa
2004-06-26

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

Paul M Stewart, Wiebke Arlt
2004-03-01

Adrenarche - physiology, biochemistry and human disease

William Rainey
2004-02-01

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Amit V. Pandey, Wiebke Arlt, Ethylin Wang Jabs, Berenice Bilharinho Mendonca
2004-08-15

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome

Deborah Cragun
2003-10-01

5α-reduced C21 steroids are substrates for human cytochrome P450c17
2003-09-01

Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen

Ian Marshall, Michael P Wajnrajch
2002-12-15

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay
2002-06-01

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

Ethylin Wang Jabs
2001-06-01

Sonographic markers of fetal trisomies: second trimester

Vivienne L Souter
1998-08-01

Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes
1997-06-01

Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.
1997-10-01

Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient

Articolo - wd:Q37001487

Benvenuto su Inventaire

la biblioteca dei tuoi amici e della tua comunità

ulteriori informazioni