(Q37330121)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19020898%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

review article

1 reference

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19020898%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

0 references

2

1 reference

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17 January 2020

José Manuel Lopes

5

1 reference

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17 January 2020

Hercília Guimarães

8

1 reference

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17 January 2020

author name string

Paulo Morais

1

1 reference

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17 January 2020

Maria do Céu Ribeiro

3

1 reference

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17 January 2020

Manuela Rodrigues

4

1 reference

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17 January 2020

Huong Le Thi Thanh

6

1 reference

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17 January 2020

Manfred Wehnert

7

1 reference

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17 January 2020

publication date

20 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19020898%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

17 January 2020

published in

1 reference

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17 January 2020

volume

168

1 reference

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17 January 2020

page(s)

1007-1012

1 reference

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17 January 2020

issue

8

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00431-008-0868-x

17 January 2020

exact match

0 references

cites work

Fetal akinesia deformation sequence: an animal model

1 reference

12 December 2020

Aplasia cutis congenita in two sibs discordant for pylori atresia

1 reference

12 December 2020

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

1 reference

12 December 2020

Restrictive dermopathy and associated prenatal ultrasound findings: case report.

1 reference

12 December 2020

Restrictive dermopathy with distinct morphological abnormalities

1 reference

12 December 2020

1 reference

12 December 2020

Restrictive dermopathy - a case report

1 reference

12 December 2020

Restrictive dermopathy and fetal behaviour.

1 reference

12 December 2020

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

1 reference

12 December 2020

Restrictive dermopathy. Report of two affected siblings and a review of the literature

1 reference

12 December 2020

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia

1 reference

12 December 2020

Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters

1 reference

12 December 2020

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

1 reference

12 December 2020

Prelamin A and lamin A appear to be dispensable in the nuclear lamina

1 reference

12 December 2020

Restrictive dermopathy: report and review

1 reference

12 December 2020

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.

1 reference

12 December 2020

Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology

1 reference

12 December 2020

Restrictive dermatopathy: a lethal congenital dermatosis and review of literature

1 reference

12 December 2020

Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Prelamin A farnesylation and progeroid syndromes

1 reference

12 December 2020

Restrictive dermopathy and report of another case

1 reference

12 December 2020

Restrictive Dermopathy Associated With Transposition of the Great Arteries and Microcolon

1 reference

12 December 2020

Restrictive dermopathy: a case report and a critical review of all hypotheses of its origin

1 reference

12 December 2020

Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature

1 reference

12 December 2020

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

1 reference

12 December 2020