(Q34389963)

1 August 2017

title

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing (English)

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ORCID Public Data File 2021

1 August 2017

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author name string

M van Steensel

1

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1 August 2017

F J Smith

2

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1 August 2017

P M Steijlen

3

1 reference

1 August 2017

I Kluijt

4

1 reference

1 August 2017

H P Stevens

5

1 reference

1 August 2017

A Messenger

6

1 reference

1 August 2017

H Kremer

7

1 reference

1 August 2017

M G Dunnill

8

1 reference

1 August 2017

C Kennedy

9

1 reference

1 August 2017

C S Munro

10

1 reference

1 August 2017

V R Doherty

11

1 reference

1 August 2017

J A McGrath

12

1 reference

1 August 2017

S P Covello

13

1 reference

1 August 2017

C M Coleman

14

1 reference

1 August 2017

J Uitto

15

1 reference

1 August 2017

W H McLean

16

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1 August 2017

language of work or name

English

0 references

publication date

1 August 1999

1 reference

American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

65

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1 August 2017

issue

2

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1 August 2017

page(s)

413-419

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Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

A gene for universal congenital alopecia maps to chromosome 8p21-22

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Alopecia universalis associated with a mutation in the human hairless gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Alopecia universalis as a single abnormality in an inbred Pakistani kindred

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Structure and expression of the hairless gene of mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Four dominant autosomal mutations affecting skin and hair development in the mouse.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

[Hypotrichosis congenita hereditaria Maria Unna]

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Basic local alignment search tool

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Japanese encephalitis vaccine and adverse effects among travellers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Molecular basis of a novel rhino (hr(rhChr)) phenotype: a nonsense mutation in the mouse hairless gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377939

Hereditary hypotrichosis congenita: Marie Unna type

27 October 2018

1 reference

12 December 2020

Molecular basis for the rhino Yurlovo (hr(rhY)) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene

1 reference

12 December 2020

Hereditary Trichodysplasia: Marie Unna'S Hypotrichosis

1 reference

12 December 2020

Hereditary hypotrichosis. A previously undescribed syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Insertional mutation of the hairless locus on mouse chromosome 14

1 reference

12 December 2020

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13

1 reference

12 December 2020

Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene

1 reference

12 December 2020

Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene

1 reference

12 December 2020

Hypotrichosis congenita hereditaria Typ M. Unna

1 reference

12 December 2020

[Marie-Unna congenital hereditary hypotrichosis]

1 reference

12 December 2020

Hereditary hypotrichosis (Marie Unna type)

1 reference

12 December 2020

Identifiers

DOI

10.1086/302506

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1 August 2017

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1 August 2017

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