Variable expressivity and mutation databases: The androgen receptor gene mutations database (Q33943733)

30 July 2017

Variable expressivity and mutation databases: The androgen receptor gene mutations database (English)

1 reference

30 July 2017

0 references

Gottlieb B

1

1 reference

PubMed ID

11317353

30 July 2017

Beitel LK

series ordinal

2

1 reference

PubMed ID

11317353

30 July 2017

Trifiro MA

series ordinal

3

1 reference

30 July 2017

1 May 2001

1 reference

30 July 2017

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30 July 2017

17

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30 July 2017

5

1 reference

30 July 2017

382-388

1 reference

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome

30 July 2017

1 reference

High direct estimate of the mutation rate in the mitochondrial genome of Caenorhabditis elegans.

21 January 2018

1 reference

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

21 January 2018

1 reference

Differential expression of prolactin receptor (PRLR) in normal and tumorous adrenal tissues: separation of cellular endocrine compartments by laser capture microdissection (LCM).

21 January 2018

1 reference

Analysis of exon 1 mutations in the androgen receptor gene

21 January 2018

1 reference

21 January 2018

Androgen insensitivity.

1 reference

Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.

21 January 2018

1 reference

The clinical and molecular spectrum of androgen insensitivity syndromes.

21 January 2018

1 reference

Inherited and de novo androgen receptor gene mutations: investigation of single-case families

21 January 2018

1 reference

Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene

21 January 2018

1 reference

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

21 January 2018

1 reference

Somatic mosaicism associated with a mild Alport syndrome phenotype

21 January 2018

1 reference

Joubert syndrome: monozygotic twins with discordant phenotypes.

21 January 2018

1 reference

Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics

21 January 2018

1 reference

Genetics and pulmonary medicine. 7. Somatic mutations in the development of lung cancer

21 January 2018

1 reference

Monogenic traits are not simple: lessons from phenylketonuria

21 January 2018

1 reference

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

21 January 2018

1 reference

Mutation of the androgen-receptor gene in metastatic androgen-independent prostate cancer

21 January 2018

1 reference

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

21 January 2018

1 reference

Somatic mutations and aging: a re-evaluation

21 January 2018

1 reference

Molecular pathology of colorectal cancer.

21 January 2018

1 reference

APC gene: database of germline and somatic mutations in human tumors and cell lines

21 January 2018

1 reference

The Androgen Receptor Gene Mutations Database

21 January 2018

1 reference

Analysis of the transactivation domain of the androgen receptor in patients with male infertility.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/HUMU.1113

1 reference

30 July 2017

1 reference

PubMed ID

11317353