Literature DB >> 728562

COFS syndrome revisited.

S D Pena, J Evans, A G Hunter.   

Abstract

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Year:  1978        PMID： 728562

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  6 in total

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

Authors:  J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

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

Authors:  L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal:  Am J Hum Genet       Date:  2000-03-15       Impact factor: 11.025

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

Authors:  M A Patton; F Giannelli; A J Francis; M Baraitser; B Harding; A J Williams
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

4.  Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.

Authors:  R M Winter; D Donnai; M D Crawfurd
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

5.  The syndrome of multiple ankyloses and facial anomalies. A neuropathologic analysis.

Authors:  R S Williams; L B Holmes
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

6.  Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

Authors:  B C Hamel; A Raams; A R Schuitema-Dijkstra; P Simons; I van der Burgt; N G Jaspers; W J Kleijer
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318
  6 in total

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