(Q34168852)

31 July 2017

3 references

24 March 2019

19 September 2019

18 November 2020

New technologies for the identification of novel genetic markers of disorders of sex development (DSD). (English)

1 reference

disorder of sex development

31 July 2017

1 reference

24 March 2019

2 references

18 November 2020

biomedical investigative technique

1 reference

19 September 2019

A Bashamboo

1

1 reference

31 July 2017

S Ledig

2

1 reference

31 July 2017

P Wieacker

3

1 reference

31 July 2017

J C Achermann

4

1 reference

31 July 2017

K McElreavey

5

1 reference

31 July 2017

language of work or name

1 reference

3 July 2010

1 reference

31 July 2017

1 September 2010

4 references

13 March 2019

24 March 2019

19 September 2019

18 November 2020

5 references

31 July 2017

24 March 2019

19 September 2019

29 May 2020

18 November 2020

4

1 reference

31 July 2017

4-5

1 reference

31 July 2017

213-224

1 reference

Creative Commons Attribution-NonCommercial 3.0 Unported

31 July 2017

3 references

24 March 2019

19 September 2019

on focus list of Wikimedia project

18 November 2020

ScienceSource

0 references

cites work

The landscape of somatic copy-number alteration across human cancers

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

5 July 2018

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Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

5 July 2018

1 reference

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Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation

5 July 2018

1 reference

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Sequencing technologies - the next generation

5 July 2018

1 reference

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Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

1 reference

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Microdroplet-based PCR enrichment for large-scale targeted sequencing

5 July 2018

1 reference

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Determination and stability of gonadal sex

5 July 2018

1 reference

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5 July 2018

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Computational methods for discovering structural variation with next-generation sequencing

5 July 2018

1 reference

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

5 July 2018

1 reference

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Common variants in polygenic schizophrenia.

5 July 2018

1 reference

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Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination

5 July 2018

1 reference

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Copy number variation in human health, disease, and evolution

5 July 2018

1 reference

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The avian Z-linked gene DMRT1 is required for male sex determination in the chicken

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Targeted capture and massively parallel sequencing of 12 human exomes

5 July 2018

1 reference

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Droplet microfluidic technology for single-cell high-throughput screening

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Next-generation DNA sequencing techniques

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Massively parallel exon capture and library-free resequencing across 16 genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Next-generation sequencing: from basic research to diagnostics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Mutations in NR5A1 associated with ovarian insufficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Sex determination and SRY: down to a wink and a nudge?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Accurate whole human genome sequencing using reversible terminator chemistry

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

The potential and challenges of nanopore sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Single-molecule DNA sequencing of a viral genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Genome-wide in situ exon capture for selective resequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Multiplex amplification of large sets of human exons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Direct selection of human genomic loci by microarray hybridization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Characterization of a recurrent 15q24 microdeletion syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Sex determination and gonadal development in mammals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

CXorf6 is a causative gene for hypospadias

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Consensus statement on management of intersex disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

BTA, a novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified DNA colonies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Genome sequencing in microfabricated high-density picolitre reactors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

High-resolution analysis of DNA copy number using oligonucleotide microarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Sex determination and the Y chromosome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Autosomal XX sex reversal caused by duplication of SOX9.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

True hermaphroditism with partial duplication of chromosome 22 and without SRY.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

High density synthetic oligonucleotide arrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Real-time DNA sequencing using detection of pyrophosphate release

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Polymorphisms of the ApoE, HSD3B1, IL-1beta and p53 genes are associated with the development of early uremic complications in diabetic patients: results of a DNA resequencing array study

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Familial Aggregation of Hypospadias: A Cohort Study

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948663

Complete sex reversal in a WAGR syndrome patient

28 October 2018

1 reference

12 December 2020

De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development

1 reference

12 December 2020

Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male

1 reference

12 December 2020

A massively parallel PicoTiterPlate™ based platform for discrete picoliter‐scale polymerase chain reactions

1 reference

12 December 2020

46,XX sex reversal with partial duplication of chromosome arm 22q

1 reference

12 December 2020

Identifiers

DOI

10.1159/000314917

1 reference

31 July 2017

1 reference

31 July 2017

1 reference