(Q33595214)

28 July 2017

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders (English)

1 reference

28 July 2017

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Tommerup N

1

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28 July 2017

Tümer Z

series ordinal

2

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28 July 2017

Tønnesen T

series ordinal

3

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28 July 2017

Horn N

series ordinal

4

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28 July 2017

language of work or name

English

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publication date

1 April 1993

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Journal of Medical Genetics

28 July 2017

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28 July 2017

30

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28 July 2017

314-315

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28 July 2017

4

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Constitutional karyotypes in retinoblastoma

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016341

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016341

Contiguous gene syndromes: a component of recognizable syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016341

The critical region on the human Xq.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016341

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016341

On the parental origin of de novo mutation in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016341

Positional cloning: let's not call it reverse anymore

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016341

[Specific fluorescence of R and G bands in human chromosomes]

21 June 2018

1 reference

12 December 2020

X-autosome translocations: cytogenetic characteristics and their consequences

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12 December 2020

High resolution chromosomes from first trimester trophoblast cultures

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12 December 2020

Menkes syndrome in a girl with X-autosome translocation

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12 December 2020

The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27ß methylation analysis

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12 December 2020

Clinical expression of Menkes syndrome in females

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12 December 2020

Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991

1 reference

12 December 2020

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

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12 December 2020

Parental origin of de novo chromosome rearrangements

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12 December 2020

Identifiers

DOI

10.1136/JMG.30.4.314

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28 July 2017

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28 July 2017

1 reference