(Q52994768)

10 May 2018

title

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. (English)

1 reference

10 May 2018

main subject

restrictive dermopathy

1 reference

3

1 reference

10 May 2018

Robert A. Hegele

6

object named as

Robert A Hegele

0 references

Carole Ober

4

object named as

Carole Ober

1 reference

10 May 2018

Catrina Loucks

1

1 reference

10 May 2018

Jillian S Parboosingh

2

1 reference

10 May 2018

Victoria M Siu

5

1 reference

10 May 2018

C Anthony Rupar

7

1 reference

10 May 2018

D Ross McLeod

8

1 reference

10 May 2018

Alfredo Pinto

9

1 reference

10 May 2018

Albert E Chudley

10

1 reference

10 May 2018

A Micheil Innes

11

1 reference

10 May 2018

language of work or name

English

0 references

publication date

11 April 2012

1 reference

10 May 2018

American Journal of Medical Genetics

published in

1 reference

10 May 2018

volume

158A

1 reference

10 May 2018

issue

5

1 reference

10 May 2018

page(s)

1229-1232

1 reference

10 May 2018

Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

History and relevance of the Hutterite population for genetic studies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Clinical genetics and the Hutterite population: a review of Mendelian disorders.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Unique disease heritage of the Dutch-German Mennonite population.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4247856

Autosomal-recessive aplasia cutis congenita--report of two affected sibs

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22495976

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Restrictive dermopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22495976

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.35302

1 reference

10 May 2018

PMCID

4247856

1 reference

10 May 2018

PubMed ID

22495976

1 reference

10 May 2018