(Q35148933)

English

Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

familial partial lipodystrophy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

L Subramanyam

1

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

V Simha

2

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

A Garg

3

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

publication date

22 December 2009

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

78

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

66-73

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Laminopathies and the long strange trip from basic cell biology to therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

The posttranslational processing of prelamin A and disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

Lamin A/C gene and the heart: how genetics may impact clinical care

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

Mislocalization of prelamin A Tyr646Phe mutant to the nuclear pore complex in human embryonic kidney 293 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

The laminopathies: a clinical review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

Laminopathies: multisystem dystrophy syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

Acquired and inherited lipodystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

LMNA mutations in atypical Werner's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

28 July 2018

ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiolo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

27 September 2018

Primary prevention of sudden death in patients with lamin A/C gene mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

27 September 2018

Diseases associated with lamin A/C gene defects: what the clinical cardiologist ought to know

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

27 September 2018

Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

27 September 2018

Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

27 September 2018

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150739

25 October 2018

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20041886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20041886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LMNA mutation position predicts organ system involvement in laminopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20041886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1399-0004.2009.01350.X

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

0 references

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=Q35148933&oldid=2042788298"