(Q81775156)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698612%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698612%20AND%20SRC:MED&resulttype=core&format=json

congenital generalized lipodystrophy

12 January 2020

main subject

1 reference

4

Susan T Iannaccone

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698612%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

author name string

Vinaya Simha

1

1 reference

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12 January 2020

Anil K Agarwal

2

1 reference

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12 January 2020

Patricia A Aronin

3

1 reference

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12 January 2020

Abhimanyu Garg

5

1 reference

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12 January 2020

publication date

1 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698612%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

12 January 2020

published in

1 reference

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12 January 2020

volume

146A

1 reference

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12 January 2020

issue

18

1 reference

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12 January 2020

page(s)

2318-2326

1 reference

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

12 January 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia

1 reference

12 December 2020

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

1 reference

12 December 2020

Cardiomyopathy in congenital complete lipodystrophy

1 reference

12 December 2020

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

1 reference

12 December 2020

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

1 reference

12 December 2020

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

1 reference

12 December 2020

Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

1 reference

12 December 2020

Acquired and inherited lipodystrophies

1 reference

12 December 2020

Cardiovascular risk factors in Mexican-American children at risk for type 2 diabetes mellitus (T2DM).

1 reference

12 December 2020

Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma

1 reference

12 December 2020

Congenital Generalized Lipodystrophy Accompanied by Cystic Angiomatosis

1 reference

12 December 2020

Bone lesions in congenital generalised lipodystrophy

1 reference

12 December 2020

Lipid and lipoprotein distributions in white children ages 6-19 yr. The Lipid Research Clinics Program Prevalence Study

1 reference

12 December 2020

Homeostasis model assessment: insulin resistance and ?-cell function from fasting plasma glucose and insulin concentrations in man

1 reference

12 December 2020

Hypertrophic cardiomyopathy in total lipodystrophy

1 reference

12 December 2020

The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy

1 reference

12 December 2020

Generalized lipodystrophy, congenital and acquired (lipoatrophy).

1 reference

12 December 2020

Cardiac findings in generalized lipodystrophy

1 reference

12 December 2020

Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp.

1 reference

12 December 2020

Down syndrome in children: the role of the orthopaedic surgeon.

1 reference

12 December 2020

Prevalence and determinants of insulin resistance among U.S. adolescents: a population-based study.

1 reference

12 December 2020

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

1 reference

12 December 2020

Caveolin-1: a new locus for human lipodystrophy

1 reference

12 December 2020

Atlantoaxial instability in Dyggve-Melchior-Clausen syndrome. Case report and review of the literature.

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32457

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698612%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698612%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

PubMed publication ID

18698612

1 reference