(Q35438358)

8 August 2017

title

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy (English)

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8 August 2017

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Kahn CR

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8 August 2017

Lathrop M

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8 August 2017

Verloes A

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8 August 2017

Van Maldergem L

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8 August 2017

Magré J

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8 August 2017

Khallouf TE

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8 August 2017

Gedde-Dahl T Jr

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8 August 2017

Delépine M

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8 August 2017

Trygstad O

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8 August 2017

Seemanova E

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8 August 2017

Stephenson T

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8 August 2017

Albott CS

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8 August 2017

Bonnici F

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8 August 2017

Panz VR

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8 August 2017

Medina JL

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8 August 2017

Bogalho P

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8 August 2017

Huet F

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8 August 2017

Savasta S

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8 August 2017

Robert JJ

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8 August 2017

Loret H

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8 August 2017

De Kerdanet M

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8 August 2017

Tubiana-Rufi N

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8 August 2017

Mégarbané A

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8 August 2017

Maassen J

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8 August 2017

Polak M

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8 August 2017

Lacombe D

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8 August 2017

Silveira EL

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8 August 2017

D'Abronzo FH

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8 August 2017

Grigorescu F

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8 August 2017

Capeau J

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8 August 2017

O'Rahilly S

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8 August 2017

language of work or name

English

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publication date

1 October 2002

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

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8 August 2017

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8 August 2017

page(s)

722-733

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An undiagnosed endocrinometabolic syndrome: report of 2 cases

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

27 July 2018

Lipoatrophy revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

Genetically defined forms of diabetes in children

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

Generalized lipodystrophy, congenital and acquired (lipoatrophy).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

Congenital Generalized Lipodystrophy Accompanied by Cystic Angiomatosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9q34

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734991

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12362029

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12362029

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.39.10.722

1 reference

8 August 2017

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8 August 2017

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