(Q44415871)

English

A Novel Point Mutation in the Hormone Binding Domain of the Androgen Receptor Associated with Partial and Minimal Androgen Insensitivity Syndrome

scientific article published on February 1, 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

A novel point mutation in the hormone binding domain of the androgen receptor associated with partial and minimal androgen insensitivity syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

A Novel Point Mutation in the Hormone Binding Domain of the Androgen Receptor Associated with Partial and Minimal Androgen Insensitivity Syndrome (English)

1 reference

10.1515/JPEM.2003.16.2.149

https://api.crossref.org/works/10.1515/JPEM.2003.16.2.149

27 December 2023

1 reference

10.1515/JPEM.2003.16.2.149

https://api.crossref.org/works/10.1515/JPEM.2003.16.2.149

27 December 2023

2

object named as

Olaf Hiort

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

Assimina Galli-Tsinopoulou

1

object named as

Assimina Galli-Tsinopoulou

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12713250

27 December 2023

author name string

Tobias Schuster

3

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

Gerald Messer

4

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

Ursula Kuhnle

5

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12713250

27 December 2023

publication date

1 February 2003

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

full work available at URL

https://www.degruyter.com/document/doi/10.1515/JPEM.2003.16.2.149/pdf

1 reference

10.1515/JPEM.2003.16.2.149

https://api.crossref.org/works/10.1515/JPEM.2003.16.2.149

27 December 2023

Journal of Pediatric Endocrinology and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

16

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

149-154

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

Androgen insensitivity.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Mutations of the androgen receptor gene identified in perineal hypospadias

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Variable androgen receptor levels in infertile men.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Significance of mutations in the androgen receptor gene in males with idiopathic infertility

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

An androgen receptor mutation causing androgen resistance in undervirilized male syndrome

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Domains of the Human Androgen Receptor Involved in Steroid Binding, Transcriptional Activation, and Subcellular Localization

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Mechanisms of androgen receptor activation and function.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Phenotypic diversity in siblings with partial androgen insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2003.16.2.149

21 January 2018

Endocrine Reviews

4

16

271

author name string

Quigley CA

publication date

1995

1 reference

10.1515/JPEM.2003.16.2.149

https://api.crossref.org/works/10.1515/JPEM.2003.16.2.149

27 December 2023

Abnormality of intracellular 5 alpha-dihydrotestosterone binding in simple hypospadias: studies on equilibrium steroid binding in sonicates of genital skin fibroblasts

7

1 reference

10.1515/JPEM.2003.16.2.149

https://api.crossref.org/works/10.1515/JPEM.2003.16.2.149

27 December 2023

Human complete androgen insensitivity with normal dihydrotestosterone receptor binding capacity in cultured genital skin fibroblasts: evidence for a qualitative abnormality of the receptor

14

1 reference

10.1515/JPEM.2003.16.2.149

https://api.crossref.org/works/10.1515/JPEM.2003.16.2.149

27 December 2023

Male infertility and increased risk of diseases in future generations.

19

1 reference

10.1515/JPEM.2003.16.2.149

https://api.crossref.org/works/10.1515/JPEM.2003.16.2.149

27 December 2023

Androgen resistance caused by mutations in the androgen receptor gene.

26

1 reference

10.1515/JPEM.2003.16.2.149

https://api.crossref.org/works/10.1515/JPEM.2003.16.2.149

27 December 2023

Identifiers

10.1515/JPEM.2003.16.2.149

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

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