(Q33737564)

29 July 2017

title

Identification of de novo copy number variants associated with human disorders of sexual development (English)

1 reference

29 July 2017

7

Chad A Shaw

1 reference

29 July 2017

Jean-Francois Louet

4

0 references

author name string

Mounia Tannour-Louet

1

1 reference

29 July 2017

Shuo Han

2

1 reference

29 July 2017

Sean T Corbett

3

1 reference

29 July 2017

Svetlana Yatsenko

5

1 reference

29 July 2017

Lindsay Meyers

6

1 reference

29 July 2017

Sung-Hae L Kang

8

1 reference

29 July 2017

Sau Wai Cheung

9

1 reference

29 July 2017

Dolores J Lamb

10

1 reference

29 July 2017

language of work or name

English

0 references

publication date

26 October 2010

1 reference

29 July 2017

1 reference

29 July 2017

volume

5

1 reference

29 July 2017

issue

10

1 reference

29 July 2017

page(s)

e15392

1 reference

Creative Commons Attribution 4.0 International

29 July 2017

copyright license

start time

26 October 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Genomic copy number variation, human health, and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

The biology of infertility: research advances and clinical challenges

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Endocrine disruptors, genital development, and hypospadias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Role of hormones, genes, and environment in human cryptorchidism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Early management and gender assignment in disorders of sexual differentiation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Smad-interacting protein-1 (Zfhx1b) acts upstream of Wnt signaling in the mouse hippocampus and controls its formation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Genomic rearrangements and sporadic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Cryptorchidism: classification, prevalence and long-term consequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

The makings of maleness: towards an integrated view of male sexual development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Autosomal XX sex reversal caused by duplication of SOX9.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964326

Cryptorchidism and hypospadias.

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015392

The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015392

Generation of the floxed allele of the SIP1 (Smad-interacting protein 1) gene for Cre-mediated conditional knockout in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015392

Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015392

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015392

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015392

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015392

Chromosomal anomalies in cryptorchidism and hypospadias

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21048976

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21048976

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Loss of Fgfr2 leads to partial XY sex reversal

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21048976

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0015392

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference