(Q40644763)

English

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

scientific article published on 3 April 2003

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scholarly article

1 reference

Europe PubMed Central

22 September 2017

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). (English)

1 reference

Europe PubMed Central

22 September 2017

1 reference

based on heuristic

inferred from title

Robert A. Hegele

2

object named as

Robert A Hegele

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author name string

Henian Cao

1

1 reference

Europe PubMed Central

22 September 2017

publication date

3 April 2003

1 reference

Europe PubMed Central

22 September 2017

Journal of Human Genetics

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Europe PubMed Central

22 September 2017

48

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Europe PubMed Central

22 September 2017

271-274

1 reference

Europe PubMed Central

22 September 2017

5

1 reference

Europe PubMed Central

22 September 2017

https://scigraph.springernature.com/pub.10.1007/s10038-003-0025-3

0 references

An unidentified neonatal progeroid syndrome: follow-up report

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hutchinson-Gilford progeria: familial occurrence

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe bone changes in a case of Hutchinson-Gilford syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Del(1)(q23) in a patient with Hutchinson-Gilford progeria

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Life at the edge: the nuclear envelope and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wiedemann-Rautenstrauch syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Wiedemann-Rautenstrauch or Neonatal Progeroid Syndrome - Neuropathological Study of a Case

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progeria: A cell culture study and clinical report of familial incidence

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progeria, a pathologic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case of Progeria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12768443

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-003-0025-3

1 reference

Europe PubMed Central

22 September 2017

1 reference

Europe PubMed Central

22 September 2017

ResearchGate publication ID

0 references

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