(Q33682971)

28 July 2017

title

Further delineation of the partial proximal trisomy 10q syndrome (English)

1 reference

28 July 2017

Aalfs CM

1

1 reference

28 July 2017

Hoovers JM

2

1 reference

28 July 2017

Nieste-Otter MA

3

1 reference

28 July 2017

Mannens MM

4

1 reference

28 July 2017

Hennekam RC

5

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28 July 2017

Leschot NJ

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

12

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28 July 2017

page(s)

968-971

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Trisomy 10qter confirmed by in situ hybridisation

28 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=1051779

Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051779

A new case of proximal 10q partial trisomy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051779

Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051779

Radiochemical assays for adenylate kinase and AMP deaminase using polyethyleneimine-cellulose thin layers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051779

Assignment of the gene for human adenosine kinase to chromosome 10 using a somatic cell hybrid clone panel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051779

Three Human Glutamate Dehydrogenase Genes (GLUD1, GLUDP2, and GLUDP3) Are Located on Chromosome 10q, but Are Not Closely Physically Linked

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051779

A de novo case of trisomy 10p: Gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase

30 October 2018

1 reference

12 December 2020

Tandem duplication of 10(q21-q22) in a mentally deficient man

1 reference

12 December 2020

Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity

1 reference

12 December 2020

Assignment of the GDH loci to human chromosomes 10q23 and Xq24 by in situ hybridization

1 reference

12 December 2020

Serial duplication of 10 (q21?q22) in a mentally retarded boy with congenital malformations

1 reference

12 December 2020

A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.12.968

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28 July 2017

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28 July 2017

1 reference