Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency (Q37001487)

17 August 2017

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency (English)

1 reference

congenital adrenal hyperplasia

17 August 2017

0 references

0 references

1 reference

Jan Idkowiak

2

0 references

Nils Krone

object named as

Nils Krone

12

0 references

Wiebke Arlt

object named as

Wiebke Arlt

14

0 references

Cedric H L Shackleton

13

object named as

Cedric H L Shackleton

1 reference

17 August 2017

8

Shelly Nielsen

1 reference

17 August 2017

11

Vivek Dhir

1 reference

17 August 2017

3

Beverly A Hughes

1 reference

17 August 2017

4

Hannah E Ivison

1 reference

17 August 2017

7

Ann Haskins Olney

1 reference

17 August 2017

Nicole Reisch

1

1 reference

17 August 2017

Omar A Abdul-Rahman

5

1 reference

17 August 2017

Laura G Hendon

6

1 reference

17 August 2017

Rachel Harrison

9

1 reference

17 August 2017

Edward M Blair

10

1 reference

17 August 2017

language of work or name

English

0 references

publication date

30 January 2013

1 reference

The Journal of Clinical Endocrinology and Metabolism

17 August 2017

1 reference

17 August 2017

98

1 reference

17 August 2017

E528-36

1 reference

17 August 2017

3

1 reference

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Genetics of congenital adrenal hyperplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Adrenarche - physiology, biochemistry and human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Sonographic markers of fetal trisomies: second trimester.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Quad screen as a predictor of adverse pregnancy outcome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Adrenal hypoplasia congenita: four new cases in children

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

The value of performing a dating scan on all women in antenatal screening for Down's syndrome and neural tube defects.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

Fluconazole-induced congenital anomalies in three infants

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708032

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

4 September 2018

1 reference

12 December 2020

Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P

1 reference

12 December 2020

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

1 reference

12 December 2020

Antenatal screening for Down's syndrome

1 reference

12 December 2020

Congenital malformations in an infant born to a woman treated with fluconazole

1 reference

12 December 2020

Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay

1 reference

12 December 2020

Prenatal diagnosis of congenital adrenal hypoplasia

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2012-3449

1 reference

release_yhht4fk2bzcnhphmpvzjmjb2ou

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yhht4fk2bzcnhphmpvzjmjb2ou

24 November 2022

mapped directly with Wikidata item

1 reference

17 August 2017

1 reference