Origin of uniparental disomy 6: presentation of a new case and review on the literature (Q34239750)

31 July 2017

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title

Origin of uniparental disomy 6: presentation of a new case and review on the literature (English)

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31 July 2017

Eggermann T

1

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31 July 2017

Marg W

2

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31 July 2017

Mergenthaler S

3

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31 July 2017

Eggermann K

4

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31 July 2017

Schemmel V

5

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31 July 2017

Stoffers U

6

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31 July 2017

Zerres K

7

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31 July 2017

Spranger S

8

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31 July 2017

1 January 2001

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31 July 2017

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31 July 2017

44

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31 July 2017

1

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31 July 2017

41-45

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

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Uniparental maternal disomy 6 in a renal transplant patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Fortuitous detection of uniparental isodisomy of chromosome 6.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Non-disjunction of chromosome 18

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

An imprinted locus associated with transient neonatal diabetes mellitus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

An imprinted gene(s) for diabetes?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2801%2901035-8

10.1016/S0003-3995(01)01035-8

7 January 2021

Identifiers

DOI

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release_xn4eqogm35fpzh6gdoz5bsyhhi

31 July 2017

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Fatcat

https://api.fatcat.wiki/v0/release/xn4eqogm35fpzh6gdoz5bsyhhi

mapped directly with Wikidata item

24 November 2022

based on heuristic

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