Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations? (Q33793955)

29 July 2017

title

Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations? (English)

1 reference

29 July 2017

Andrea Garolla

8

1 reference

ORCID Public Data File 2021

author name string

Umberto Valente

1

1 reference

29 July 2017

Cinzia Vinanzi

2

1 reference

29 July 2017

Savina Dipresa

3

1 reference

29 July 2017

Riccardo Selice

4

1 reference

29 July 2017

Massimo Menegazzo

5

1 reference

29 July 2017

Massimo Iafrate

6

1 reference

29 July 2017

Carlo Foresta

7

1 reference

29 July 2017

language of work or name

English

0 references

publication date

13 June 2017

1 reference

29 July 2017

1 reference

29 July 2017

volume

7

1 reference

29 July 2017

issue

1

1 reference

29 July 2017

page(s)

3358

1 reference

Creative Commons Attribution 4.0 International

29 July 2017

copyright license

start time

13 June 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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4 July 2018

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Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis

4 July 2018

1 reference

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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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5469740

Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility

4 July 2018

1 reference

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Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations

4 July 2018

1 reference

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Regulation of androgen receptor activity by tyrosine phosphorylation.

4 July 2018

1 reference

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Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome

4 July 2018

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Mechanistic relationship between androgen receptor polyglutamine tract truncation and androgen-dependent transcriptional hyperactivity in prostate cancer cells

4 July 2018

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Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene

4 July 2018

1 reference

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A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men

4 July 2018

2 references

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4 July 2018

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Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene

21 January 2018

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

4 July 2018

1 reference

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Regulation of androgen action

4 July 2018

1 reference

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Androgen receptor defects: historical, clinical, and molecular perspectives

4 July 2018

1 reference

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Cloning, structure and expression of a cDNA encoding the human androgen receptor

4 July 2018

1 reference

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Androgen receptor function is required in Sertoli cells for the terminal differentiation of haploid spermatids.

4 July 2018

1 reference

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Klinefelter syndrome: are we missing opportunities for early detection?

21 January 2018

1 reference

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The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.

21 January 2018

1 reference

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The frequency of androgen receptor deficiency in infertile men.

21 January 2018

1 reference

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Androgen receptor transactivation domain and control of spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/S41598-017-03371-Y

Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/S41598-017-03371-Y

X chromosome gene expression in human tissues: male and female comparisons

21 January 2018

1 reference

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Prediction of protein stability changes for single-site mutations using support vector machines

21 January 2018

1 reference

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Update of the androgen receptor gene mutations database

21 January 2018

1 reference

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Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism

30 October 2018

1 reference

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Molecular analysis of the androgen receptor gene in testicular cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/S41598-017-03371-Y

Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/S41598-017-03371-Y

A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28611373

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Infertility treatment in Klinefelter syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28611373

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Two Types of Tubules containing only Sertoli Cells in Adults with Klinefelter's Syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28611373

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/S41598-017-03371-Y

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

1 reference