Novel associations in disorders of sex development: findings from the I-DSD Registry (Q37639067)

21 August 2017

Novel associations in disorders of sex development: findings from the I-DSD Registry (English)

1 reference

21 August 2017

Paul-Martin Holterhus

17

Paul-Martin Holterhus

0 references

Olaf Hiort

16

Olaf Hiort

0 references

Ieuan Hughes

18

Ieuan Hughes

0 references

Lidka Lisa

20

Lidka Lisa

0 references

Jillian Bryce

2

Jillian Bryce

0 references

Feyza Darendeliler

12

Feyza Darendeliler

0 references

Martine Cools

Martine Cools

11

0 references

Nils Krone

Nils Krone

19

0 references

Antonio Balsamo

Antonio Balsamo

9

0 references

Richard Sinnott

Richard Sinnott

5

0 references

Wiebke Arlt

Wiebke Arlt

7

0 references

Mona Alkhawari

6

Mona Alkhawari

1 reference

21 August 2017

3

Jipu Jiang

1 reference

21 August 2017

14

Mona Ellaithi

1 reference

21 August 2017

4

Martina Rodie

1 reference

21 August 2017

Kathryn Cox

1

1 reference

21 August 2017

Laura Audi

8

1 reference

21 August 2017

Silvano Bertelloni

10

1 reference

21 August 2017

Stenvert Drop

13

1 reference

21 August 2017

Tulay Guran

15

1 reference

21 August 2017

Yves Morel

21

1 reference

21 August 2017

Olle Soder

22

1 reference

21 August 2017

Peter Wieacker

23

1 reference

21 August 2017

S Faisal Ahmed

24

1 reference

21 August 2017

language of work or name

English

0 references

publication date

3 December 2013

1 reference

The Journal of Clinical Endocrinology and Metabolism

21 August 2017

1 reference

21 August 2017

99

1 reference

21 August 2017

2

1 reference

21 August 2017

E348-55

1 reference

Cardiovascular pathology in males and females with 45,X/46,XY mosaicism

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Disorders of sex development: new genes, new concepts

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Consensus statement on management of intersex disorders.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Prevalence of hypospadias and other genital anomalies among singleton births, 1988-1997, in Scotland

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Reduced birth weight in boys with hypospadias: an index of androgen dysfunction?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Minireview: sex differentiation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

45,X/46,XY mosaicism: report of 27 cases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

WT-1 is required for early kidney development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Testicular feminization syndrome and associated gonadal tumors in Denmark

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Understanding the genetic aetiology in patients with XY DSD.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Description of children with 45,X/46,XY karyotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

The European disorder of sex development registry: a virtual research environment.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Androgen-regulated gene expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

The androgen receptor gene mutations database: 2012 update.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Current status of neonatal screening for congenital adrenal hyperplasia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Maternal androgen excess reduces placental and fetal weights, increases placental steroidogenesis, and leads to long-term health effects in their female offspring.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Epidemiology and initial management of ambiguous genitalia at birth in Germany.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Risk factor patterns for cryptorchidism and hypospadias

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Congenital Heart Defects in Europe: Prevalence and Perinatal Mortality, 2000 to 2005

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3955252

Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitalia

3 December 2018

1 reference

12 December 2020

Identification of androgen-regulated genes in mouse kidney by representational difference analysis and random arbitrarily primed polymerase chain reaction

1 reference

12 December 2020

The role of androgens in fetal growth: observational study in two genetic models of disordered androgen signalling

1 reference

12 December 2020

[The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics]

1 reference

12 December 2020

Upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia

1 reference

12 December 2020

The psychological impact of genital anomalies on the parents of affected children

1 reference

12 December 2020

Congenital malformations co-occurring with hypospadias in California, 1983-1997

1 reference

12 December 2020

Minireview: Sex Differentiation

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2013-2918

1 reference

21 August 2017

1 reference

21 August 2017

1 reference