Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy (Q55670525)

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

Language	Label	Description	Also known as
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

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scholarly article

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

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

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Kwame Anyane-Yeboa

object named as

Kwame Anyane-Yeboa

2

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author name string

J M Graham

1

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K Anyane-Yeboa

2

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A Raams

3

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E Appeldoorn

4

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W J Kleijer

5

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V H Garritsen

6

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D Busch

7

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T G Edersheim

8

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N G Jaspers

9

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John M. Graham

1

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Anja Raams

3

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Esther Appeldoorn

4

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Wim J. Kleijer

5

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Victor H. Garritsen

6

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David Busch

7

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Terri G. Edersheim

8

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Nicolaas G.J. Jaspers

9

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language of work or name

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publication date

August 2001

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American Journal of Human Genetics

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69

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2

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291-300

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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

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