Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. (Q34145519)

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5 November 2019

title

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene (English)

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5 November 2019

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1

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5 November 2019

author name string

J M Graham

2

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5 November 2019

C R Greenberg

3

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5 November 2019

D B Busch

4

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5 November 2019

A T Doughty

5

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5 November 2019

D W Ziffer

6

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5 November 2019

D M Coleman

7

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5 November 2019

I Savre-Train

8

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5 November 2019

E C Friedberg

9

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5 November 2019

language of work or name

English

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publication date

15 March 2000

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American Journal of Human Genetics

5 November 2019

published in

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5 November 2019

volume

66

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5 November 2019

issue

4

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5 November 2019

page(s)

1221-1228

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describes a project that uses

5 November 2019

TelCOFS02MA

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TelCOFS03MA

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cites work

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity

1 reference

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Extension of life-span by introduction of telomerase into normal human cells

5 July 2018

1 reference

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Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288189

Neuropathological Findings in Eight Children with Cerebro-oculo-facio-skeletal (COFS) Syndrome

5 July 2018

1 reference

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Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells

5 July 2018

1 reference

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Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome

5 July 2018

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Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA

5 July 2018

1 reference

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The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

5 July 2018

1 reference

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The cerebro-oculo-facio-skeletal syndrome

5 July 2018

1 reference

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Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures

5 July 2018

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The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case

5 July 2018

1 reference

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Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndrome

5 July 2018

1 reference

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The cerebro-oculo-facio-skeletal syndrome

5 July 2018

1 reference

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Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome

5 July 2018

1 reference

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Two brothers with Martsolf's syndrome

5 July 2018

1 reference

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Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288189

Martsolf's syndrome in a non-Jewish boy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288189

Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome

5 July 2018

1 reference

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CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288189

Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies

5 July 2018

1 reference

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Cerebro-oculo-facio-skeletal syndrome: further delineation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288189

Cataract, hypertrichosis, and mental retardation (CAHMR): A new autosomal recessive syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288189

Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288189

A simple method for amplification of DNA from paraffin-embedded tissues

5 July 2018

1 reference

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ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

5 July 2018

1 reference

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Cockayne syndrome: Review of 140 cases

5 July 2018

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A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?

5 July 2018

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Further evidence for the autosomal-recessive inheritance of the COFS syndrome

5 July 2018

1 reference

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5 July 2018

COFS syndrome revisited

1 reference

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Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

5 July 2018

1 reference

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Renal Anomalies and Oligohydramnios in the Cerebro-oculofacio-skeletal Syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288189

The cerebro-oculo-facio-skeletal syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288189

Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10739753

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302867

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10739753 AND SRC:MED&resulttype=core&format=json

5 November 2019

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5 November 2019

PubMed publication ID

10739753

1 reference