Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy (Q24530676)

4 July 2017

0 references

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy (English)

1 reference

nonphotosensitive trichothiodystrophy

4 July 2017

1 reference

1 reference

4

Ulpu Saarialho-Kere

0 references

Renata Rizzo

Renata Rizzo

12

0 references

Jacques S Beckmann

Jacques S Beckmann

18

0 references

Stephen W. Scherer

20

Stephen W Scherer

1 reference

4 July 2017

Erik G Puffenberger

8

0 references

Jeffrey R MacDonald

Jeffrey R MacDonald

7

0 references

author name string

Kazuhiko Nakabayashi

1

1 reference

4 July 2017

Daniela Amann

2

1 reference

4 July 2017

Yan Ren

3

1 reference

4 July 2017

Ulpu Saarialho-Kere

4

1 reference

4 July 2017

Nili Avidan

5

1 reference

4 July 2017

Simone Gentles

6

1 reference

4 July 2017

Angela M Christiano

9

1 reference

4 July 2017

Amalia Martinez-Mir

10

1 reference

4 July 2017

Julio C Salas-Alanis

11

1 reference

4 July 2017

Esther Vamos

13

1 reference

4 July 2017

Anja Raams

14

1 reference

4 July 2017

Clifford Les

15

1 reference

4 July 2017

Eric Seboun

16

1 reference

4 July 2017

Nicolaas G J Jaspers

17

1 reference

4 July 2017

Charles E Jackson

19

1 reference

4 July 2017

language of work or name

English

0 references

publication date

11 January 2005

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

76

1 reference

4 July 2017

issue

3

1 reference

4 July 2017

page(s)

510-516

1 reference

Human chromosome 7: DNA sequence and biology

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

Trichothiodystrophy, a transcription syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

Distinct localization of collagenase and tissue inhibitor of metalloproteinases expression in wound healing associated with ulcerative pyogenic granuloma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

The physicochemical properties of hair in the BIDS syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196401

Amish brittle hair syndrome gene maps to 7p14.1.

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/15645389

12 December 2020

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15645389

12 December 2020

Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15645389

12 December 2020

Trichothiodystrophy: report of a new case with severe nervous system impairment

1 reference

https://pubmed.ncbi.nlm.nih.gov/15645389

12 December 2020

A new case of isolated trichothiodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15645389

12 December 2020

Identifiers

DOI

10.1086/428141

1 reference

release_2jplisvgcbgefgucsyzv6ae6fq

4 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2jplisvgcbgefgucsyzv6ae6fq

24 November 2022

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

5110704

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference