Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. (Q24532206)

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English	Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.	scientific article

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20 December 2019

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation (English)

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20 December 2019

congenital disorder

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Nance-Horan syndrome

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based on heuristic

inferred from title

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based on heuristic

inferred from title

20

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20 December 2019

Kathryn P. Burdon

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20 December 2019

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20 December 2019

Liesel FitzGerald

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20 December 2019

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20 December 2019

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20 December 2019

Anne Kathrin Voss

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20 December 2019

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Jamie E Craig

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20 December 2019

David A. Mackey

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David A Mackey

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20 December 2019

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James D McKay

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20 December 2019

Michèle M Sale

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20 December 2019

Isabelle M Russell-Eggitt

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20 December 2019

M Gabriela Wirth

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20 December 2019

James E Elder

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20 December 2019

Alan Nicoll

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20 December 2019

Marie A Shaw

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20 December 2019

Shiwani Sharma

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20 December 2019

Peter Gruss

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20 December 2019

Shelley Ross

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20 December 2019

Paul Thomas

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20 December 2019

Tim Thomas

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20 December 2019

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16 October 2003

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20 December 2019

American Journal of Human Genetics

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20 December 2019

73

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20 December 2019

5

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20 December 2019

1120-1130

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20 December 2019

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

24 March 2017

Capturing genes encoding membrane and secreted proteins important for mouse development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

24 March 2017

The Nance-Horan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

24 March 2017

Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

24 March 2017

Prediction of complete gene structures in human genomic DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

24 March 2017

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

24 March 2017

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

24 March 2017

Querkopf, a MYST family histone acetyltransferase, is required for normal cerebral cortex development

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

24 March 2017

Mouse Dll3: a novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

24 March 2017

Two interdependent basic domains in nucleoplasmin nuclear targeting sequence: identification of a class of bipartite nuclear targeting sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

7 April 2017

Faster sequential genetic linkage computations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

7 April 2017

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

27 September 2017

A locus for isolated cataract on human Xp.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

27 September 2017

Monogenic causes of X-linked mental retardation.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

27 September 2017

Allele-sharing models: LOD scores and accurate linkage tests

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

27 September 2017

Congenital X-linked cataract, dental anomalies and brachymetacarpalia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

27 September 2017

Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts

1 reference

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27 September 2017

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

30 May 2018

Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

30 May 2018

Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

30 May 2018

Application of a time-delay neural network to promoter annotation in the Drosophila melanogaster genome

1 reference

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29 November 2018

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

29 November 2018

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180491

29 November 2018

Mutations in the founder of the MIP gene family underlie cataract development in the mouse.

1 reference

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29 November 2018

Efficiency assessment of the gene trap approach

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12 December 2020

based on heuristic

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Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus

1 reference

https://pubmed.ncbi.nlm.nih.gov/14564667

12 December 2020

based on heuristic

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20 December 2019

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