Swyer's Syndrome: In a Fifty-Year-Old Female (Q36478962)

14 August 2017

0 references

Swyer's Syndrome: In a Fifty-Year-Old Female (English)

1 reference

14 August 2017

Cavit Culha

1

1 reference

14 August 2017

Mesut Ozkaya

2

1 reference

14 August 2017

Rustu Serter

3

1 reference

14 August 2017

Ibrahim Sahin

4

1 reference

14 August 2017

Bayram Aydin

5

1 reference

14 August 2017

Yalcin Aral

6

1 reference

14 August 2017

17 January 2012

1 reference

The journal of obstetrics and gynaecology of India

14 August 2017

1 reference

14 August 2017

62

1 reference

14 August 2017

5

1 reference

14 August 2017

571-574

1 reference

Dysgerminoma in three patients with Swyer syndrome

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526701

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526701

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526701

Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526701

Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526701

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526701

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.

28 June 2018

1 reference

https://api.crossref.org/works/10.1007/S13224-011-0100-1

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S13224-011-0100-1

Identification of a novel mutation in the SRY gene in a 46, XY female patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S13224-011-0100-1

Tumors of dysgenetic gonads in Swyer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S13224-011-0100-1

SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S13224-011-0100-1

[Clinical examinations, chromosomal and molecular DNA in patients with Swyer syndrome]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24082562

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24082562

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24082562

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S13224-011-0100-1

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

24082562

1 reference