Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations (Q34221178)

31 July 2017

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations (English)

1 reference

31 July 2017

Pascal Philibert

3

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author name string

Nicolas Kalfa

1

1 reference

31 July 2017

Maki Fukami

2

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31 July 2017

Francoise Audran

4

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31 July 2017

Catherine Pienkowski

5

1 reference

31 July 2017

Jacques Weill

6

1 reference

31 July 2017

Graziella Pinto

7

1 reference

31 July 2017

Sylvie Manouvrier

8

1 reference

31 July 2017

Michel Polak

9

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31 July 2017

Totsumo Ogata

10

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31 July 2017

Charles Sultan

11

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31 July 2017

language of work or name

English

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publication date

30 March 2012

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31 July 2017

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31 July 2017

7

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31 July 2017

e32505

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31 July 2017

3

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Creative Commons Attribution 4.0 International

31 July 2017

start time

30 March 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Rising hypospadias rates: disproving a myth

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

PANTHER version 7: improved phylogenetic trees, orthologs and collaboration with the Gene Ontology Consortium

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Critical androgen-sensitive periods of rat penis and clitoris development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

A generic method for assignment of reliability scores applied to solvent accessibility predictions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

MAMLD1 (CXorf6): a new gene involved in 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=3316539

Protein structure prediction on the Web: a case study using the Phyre server

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

The Jpred 3 secondary structure prediction server

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity 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=3316539

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

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=3316539

SNPs3D: candidate gene and SNP selection for association studies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Human non-synonymous SNPs: server and survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Aetiological diagnosis of male sex ambiguity: a collaborative study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Function of steroidogenic factor 1 during development and differentiation of the reproductive system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Structure, chromosomal locus, and promoter of mouse Hes2 gene, a homologue of Drosophila hairy and Enhancer of split

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Hypospadias trends in two US surveillance systems

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032505

Mutations of CXorf6 are associated with a range of severities of hypospadias

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032505

Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032505

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032505

Optimal cutoff value of contralateral testicular size for prediction of absent testis in Japanese boys with nonpalpable testis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032505

Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3316539

Mutational study of the MAMLD1-gene in hypospadias

28 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032505

Polymorphisms of MAMLD1 gene in hypospadias

21 January 2018

1 reference

12 December 2020

Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain

1 reference

12 December 2020

Androgen insensitivity syndromes

1 reference

12 December 2020

The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0032505

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DOI

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31 July 2017

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31 July 2017

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