(Q55670525)

English

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

article

Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

In more languages

Statements

scholarly article

0 references

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy (English)

0 references

Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy (English)

0 references

0 references

Kwame Anyane-Yeboa

object named as

Kwame Anyane-Yeboa

2

0 references

author name string

J M Graham

1

0 references

K Anyane-Yeboa

2

0 references

A Raams

3

0 references

E Appeldoorn

4

0 references

W J Kleijer

5

0 references

V H Garritsen

6

0 references

D Busch

7

0 references

T G Edersheim

8

0 references

N G Jaspers

9

0 references

John M. Graham

1

0 references

Anja Raams

3

0 references

Esther Appeldoorn

4

0 references

Wim J. Kleijer

5

0 references

Victor H. Garritsen

6

0 references

David Busch

7

0 references

Terri G. Edersheim

8

0 references

Nicolaas G.J. Jaspers

9

0 references

language of work or name

0 references

publication date

August 2001

0 references

American Journal of Human Genetics

0 references

69

0 references

2

0 references

291-300

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

Xeroderma pigmentosum--Cockayne syndrome complex: a further case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

Martsolf's syndrome in a non-Jewish boy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

Cockayne syndrome: Review of 140 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

COFS syndrome revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

27 July 2018

A temperature-sensitive disorder in basal transcription and DNA repair in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

Polymicrogyria and motor neuropathy in Micro syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

The cerebro-oculo-facio-skeletal syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

Two brothers with Martsolf's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235303

12 August 2018

Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early onset of Cockayne syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

0 references

PMC publication ID

0 references

PubMed publication ID

0 references

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q55670525&oldid=1795252224"