Molecular analysis of three patients with interstitial deletions of chromosome band 14q31 (Q30443045)

16 October 2017

Molecular analysis of three patients with interstitial deletions of chromosome band 14q31 (English)

1 reference

16 October 2017

Byth BC

1

1 reference

16 October 2017

Costa MT

2

1 reference

16 October 2017

Teshima IE

3

1 reference

16 October 2017

Wilson WG

4

1 reference

16 October 2017

Carter NP

5

1 reference

16 October 2017

Cox DW

6

1 reference

16 October 2017

language of work or name

English

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publication date

1 July 1995

1 reference

Journal of Medical Genetics

16 October 2017

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16 October 2017

32

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16 October 2017

7

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16 October 2017

564-567

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The gene for Machado-Joseph disease maps to human chromosome 14q

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

Regional localization of loci on chromosome 14 using somatic cell hybrids

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

The size of prometaphase chromosome segments. Tables using percentages of haploid autosome length (750 band stage).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

Chromosome imbalance, normal phenotype, and imprinting

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

Parameters of the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

A second-generation linkage map of the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

Deletion (14) (q24.3q32.1): Evidence for a distinct clinical phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

Continuous linkage map of human chromosome 14 short tandem repeat polymorphisms

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050554

Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots

26 November 2018

1 reference

12 December 2020

Opposite imbalances of distal 14q in two unrelated patients

1 reference

12 December 2020

Two consecutive dinucleotide repeats constitute an informative marker at the alpha 1-antichymotrypsin (AACT) locus

1 reference

12 December 2020

A (CA)n repeat polymorphism at the 5' end of the alpha 1-antitrypsin gene (PI)

1 reference

12 December 2020

A linkage map of human chromosome 14, including 13 gene loci

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.7.564

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16 October 2017

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16 October 2017

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