(Q43801039)

English

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations

scientific article published on 18 October 2010

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Simpson-Golabi-Behmel syndrome

1 reference

based on heuristic

inferred from title

author name string

S Yano

1

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

B Baskin

2

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

A Bagheri

3

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Y Watanabe

4

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

K Moseley

5

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

A Nishimura

6

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

N Matsumoto

7

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

P N Ray

8

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

publication date

18 October 2010

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

80

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

466-471

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

A new X-linked mental retardation-overgrowth syndrome.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

X Inactivation in Females with X-Linked Disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

X-chromosome inactivation in mammals

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Lesch-Nyhan disease in a female with a clinically normal monozygotic twin

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Twinning: mechanisms and genetic implications

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01554.X

21 January 2018

Identifiers

10.1111/J.1399-0004.2010.01554.X

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q43801039&oldid=2103454389"