(Q46244222)

20 December 2017

title

A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease (English)

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20 December 2017

familial partial lipodystrophy

main subject

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Hitomi Imachi

1

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20 December 2017

Koji Murao

2

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20 December 2017

Shouji Ohtsuka

3

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20 December 2017

Mako Fujiwara

4

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20 December 2017

Tomie Muraoka

5

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20 December 2017

Hitoshi Hosokawa

6

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20 December 2017

Toshihiko Ishida

7

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20 December 2017

publication date

15 November 2008

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20 December 2017

published in

Endocrine

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20 December 2017

volume

35

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20 December 2017

issue

1

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20 December 2017

page(s)

18-21

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20 December 2017

Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS12020-008-9127-1

Premature atherosclerosis associated with monogenic insulin resistance.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS12020-008-9127-1

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

21 January 2018

1 reference

12 December 2020

Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

1 reference

12 December 2020

Post-mortem findings in familial partial lipodystrophy, Dunnigan variety

1 reference

12 December 2020

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

1 reference

12 December 2020

Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome).

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial partial lipodystrophy: complications of obesity in the non-obese?

1 reference

12 December 2020

Spectrum of renal diseases associated with extreme forms of insulin resistance

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12 December 2020

Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome

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12 December 2020

Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

1 reference

12 December 2020

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

12 December 2020

Evidence for high risk of cerebral hemorrhage in chronic dialysis patients.

1 reference

12 December 2020

Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22

1 reference

12 December 2020

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

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12 December 2020

The inner nuclear membrane

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12 December 2020

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C

1 reference

12 December 2020

Nuclear lamins: their structure, assembly, and interactions

1 reference

12 December 2020

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

1 reference

12 December 2020

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S12020-008-9127-1

Identifiers

DOI

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20 December 2017

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20 December 2017