(Q35055057)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Exome sequencing for the diagnosis of 46,XY disorders of sex development (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

11

Louanne Hudgins

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

19

Stanley F Nelson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Ruth M Baxter

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Hane Lee

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Hayk Barseghyan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Margaret P Adam

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Patricia Y Fechner

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Renee Bargman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Catherine Keegan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Sharon Travers

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Susan Schelley

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Revi P Mathew

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Heather J Stalker

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Roberto Zori

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Ora K Gordon

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Leigh Ramos-Platt

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Anna Pawlikowska-Haddal

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Ascia Eskin

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Emmanuèle Délot

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Eric Vilain

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

English

0 references

publication date

10 November 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

22 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

E333-44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins.

22 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Clinical and molecular aspects of androgen insensitivity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Steroidogenic factor-1 and human disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Androgen insensitivity syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Mutation update on the CHD7 gene involved in CHARGE syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Aetiology of hypospadias: a systematic review of genes and environment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

A map of human genome variation from population-scale sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Development of the genital ducts and external genitalia in the early human embryo

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Exome sequencing: the sweet spot before whole genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Consensus statement on management of intersex disorders.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

PLINK: a tool set for whole-genome association and population-based linkage analyses

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

A familial WT1 mutation associated with incomplete Denys-Drash syndrome

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Consensus interferon: tailored therapy and the impact of adherence

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Reversal of idiopathic hypogonadotropic hypogonadism

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318895

Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this

25 October 2018

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Phenotypic variation of SF1 gene mutations

1 reference

12 December 2020

Diagnostic exome sequencing--are we there yet?

1 reference

12 December 2020

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal

1 reference

12 December 2020

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2014-2605

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25383892%20AND%20SRC:MED&resulttype=core&format=json