(Q34236214)

31 July 2017

title

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus (English)

1 reference

31 July 2017

main subject

methylmalonic acidemia

1 reference

1 reference

M J Abramowicz

1

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31 July 2017

M Andrien

2

1 reference

31 July 2017

E Dupont

3

1 reference

31 July 2017

H Dorchy

4

1 reference

31 July 2017

J Parma

5

1 reference

31 July 2017

L Duprez

6

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31 July 2017

F D Ledley

7

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31 July 2017

W Courtens

8

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31 July 2017

E Vamos

9

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31 July 2017

language of work or name

English

0 references

publication date

1 July 1994

1 reference

Journal of Clinical Investigation

31 July 2017

published in

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31 July 2017

volume

94

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31 July 2017

issue

1

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31 July 2017

page(s)

418-421

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Uniparental disomy revisited: the first twelve years

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

Particular HLA-DQ molecules play a dominant role in determining susceptibility or resistance to type 1 (insulin-dependent) diabetes mellitus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

Permanent neonatal diabetes mellitus: A case report with plasma insulin studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

Insulin-dependent diabetes mellitus induced in transgenic mice by ectopic expression of class II MHC and interferon-gamma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296325

HLA-B locus DNA typing: detection of B*7801 and seven additional alleles by BW6-specific exon 2 amplification

28 October 2018

1 reference

12 December 2020

Tumor necrosis factor enhances HLA-A,B,C and HLA-DR gene expression in human tumor cells

1 reference

12 December 2020

Diabetes in transgenic mice resulting from over-expression of class I histocompatibility molecules in pancreatic β cells

1 reference

12 December 2020

Genetic and physical map of 11 short tandem repeat polymorphisms on human chromosome 6

1 reference

12 December 2020

Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia

1 reference

12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI117339

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31 July 2017

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31 July 2017

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