(Q33695016)

English

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Turner syndrome

1 reference

based on heuristic

inferred from title

Testicular dysgenesis syndrome

1 reference

based on heuristic

inferred from title

author name string

Mohammad Shahid

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Varinderpal S Dhillon

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Hesham Saleh Khalil

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Shameemul Haque

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Swaraj Batra

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Syed Akhtar Husain

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

L H J Looijenga

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

publication date

19 September 2010

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

131

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

https://scigraph.springernature.com/pub.10.1186/1471-2350-11-131

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

One tissue, two fates: molecular genetic events that underlie testis versus ovary development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter-->q11::q11-->pter).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Sex determination and the Y chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Gonadoblastoma, testicular and prostate cancers, and the TSPY gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Mutations in SRY and SOX9: testis-determining genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Evidence that the SRY protein is encoded by a single exon on the human Y chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Sex-reversing mutations affect the architecture of SRY-DNA complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

NMR spectroscopic analysis of the DNA conformation induced by the human testis determining factor SRY.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Gonadoblastoma. A review of 74 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Male development of chromosomally female mice transgenic for Sry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

DNA Binding Activity of Recombinant SRY from Normal Males and XY Females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

The age of occurrence of gonadal tumors in intersex patients with a Y chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949616

21 June 2018

Mutations inSRY andSOX9: Testis-determining genes

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-131

21 January 2018

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-131

21 January 2018

A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-131

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-131

21 January 2018

A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20849656

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45,X/47,XYY female

1 reference

https://pubmed.ncbi.nlm.nih.gov/20849656

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20849656

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-11-131

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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