(Q34113109)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Laura E Martínez-Garza

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

author name string

Abhimanyu Garg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Maria Dolores Hernandez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Lalitha Subramanyam

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Heloísa G dos Santos

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Oralia Barboza

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

language of work or name

English

0 references

publication date

9 June 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

5 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

volume

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

page(s)

E58-63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

Phenomics: expanding the role of clinical evaluation in genomic studies

5 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Atypical progeroid syndrome due to heterozygous missense LMNA mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

The inherited autoinflammatory syndrome: a decade of discovery.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Dual energy X-Ray absorptiometry body composition reference values from NHANES

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Lipodystrophies: disorders of adipose tissue biology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Autoinflammatory diseases: clinical and genetic advances

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Phenotype and course of Hutchinson-Gilford progeria syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Acquired and inherited lipodystrophies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Hutchinson-Gilford progeria syndrome: review of the phenotype.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936059

Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20534754

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[A case of partial lipodystrophy with erythema, dactylic deformities, calcification of the basal ganglia, immunological disorders and low IQ level (author's transl)]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20534754

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Sibling cases with lipodystrophic skin change, muscular atrophy, recurrent skin eruptions, and deformities and contractures of the joints. A possible new clinical entity]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20534754

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2010-0488

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20534754%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference