(Q33595981)

28 July 2017

title

Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci (English)

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28 July 2017

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Y Zhang

1

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28 July 2017

R McMahon

2

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28 July 2017

S J Charles

3

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28 July 2017

J S Green

4

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28 July 2017

A T Moore

5

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28 July 2017

D E Barton

6

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28 July 2017

J R Yates

7

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28 July 2017

language of work or name

English

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publication date

1 November 1993

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

30

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28 July 2017

issue

11

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28 July 2017

page(s)

923-925

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Clinical features of affected males with X linked ocular albinism

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

Strategies for multilocus linkage analysis in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

Long-range restriction map of the terminal part of the short arm of the human X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

Linkage analysis in X-linked ocular albinism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

Genetic mapping of X linked ocular albinism: linkage analysis in British families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

Genetic Mapping of X-Linked Ocular Albinism: Linkage Analysis in a Large Newfoundland Kindred

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016600

Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers

30 October 2018

1 reference

12 December 2020

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

1 reference

12 December 2020

Genetic counselling in X-linked ocular albinism: clinical features of the carrier state

1 reference

12 December 2020

Refinement of the localization of the X-linked ocular albinism gene

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

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12 December 2020

Identifiers

DOI

10.1136/JMG.30.11.923

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28 July 2017

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28 July 2017

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