Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities (Q34144408)

31 July 2017

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Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities (English)

1 reference

paternal uniparental disomy of chromosome 6

31 July 2017

main subject

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author name string

Das S

1

1 reference

31 July 2017

Lese CM

2

1 reference

31 July 2017

Song M

3

1 reference

31 July 2017

Jensen JL

4

1 reference

31 July 2017

Wells LA

5

1 reference

31 July 2017

Barnoski BL

6

1 reference

31 July 2017

Roseberry JA

7

1 reference

31 July 2017

Camacho JM

8

1 reference

31 July 2017

Ledbetter DH

9

1 reference

31 July 2017

Schnur RE

10

1 reference

31 July 2017

language of work or name

English

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publication date

18 October 2000

1 reference

American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

67

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31 July 2017

issue

6

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31 July 2017

page(s)

1586-1591

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An optimized set of human telomere clones for studying telomere integrity and architecture.

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=1287936

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann 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=1287936

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Aetiopathology and genetic basis of neonatal diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Transient neonatal diabetes mellitus and macroglossia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Transient and permanent neonatal diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

A comprehensive genetic map of the human genome based on 5,264 microsatellites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann 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=1287936

Transient neonatal diabetes and later onset diabetes: a case of inherited insulin resistance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Long-term course of neonatal diabetes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Affected-sib-pair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Partial trisomy 6q: case report with necropsy findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Uniparental disomy as a mechanism for human genetic disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Partial duplication of the long arm of chromosome 6: a clinically recognisable 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=1287936

Refinement of the 6q chromosomal region implicated in transient neonatal diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287936

Molecular genetics of Wiedemann-Beckwith syndrome

9 December 2018

1 reference

12 December 2020

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus

1 reference

12 December 2020

Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus

1 reference

12 December 2020

The syndrome of transient diabetes

1 reference

12 December 2020

Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia

1 reference

12 December 2020

Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6

1 reference

12 December 2020

An imprinted locus associated with transient neonatal diabetes mellitus

1 reference

12 December 2020

Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6

1 reference

12 December 2020

Uniparental disomy as the basis for an association of rare disorders

1 reference

12 December 2020

Two interesting cases of transient neonatal diabetes mellitus

1 reference

12 December 2020

Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event

1 reference

12 December 2020

An imprinted gene(s) for diabetes?

1 reference

12 December 2020

Uniparental maternal disomy 6 in a renal transplant patient

1 reference

12 December 2020

Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes

1 reference

12 December 2020

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

1 reference

12 December 2020

Identifiers

DOI

10.1086/316897

1 reference

31 July 2017

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31 July 2017

1 reference