Literature DB >> 7137232

Early onset of Cockayne syndrome.

R B Lowry.   

Abstract

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Year:  1982        PMID： 7137232     DOI： 10.1002/ajmg.1320130211

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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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.  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

3.  MRI in Cockayne syndrome type I.

Authors:  E Boltshauser; C Yalcinkaya; W Wichmann; F Reutter; A Prader; A Valavanis
Journal:  Neuroradiology       Date:  1989       Impact factor: 2.804

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

Authors:  D L Mallery; B Tanganelli; S Colella; H Steingrimsdottir; A J van Gool; C Troelstra; M Stefanini; A R Lehmann
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

5.  A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome.

Authors:  Maryam Taghdiri; Hassan Dastsooz; Majid Fardaei; Sanaz Mohammadi; Mohammad Ali Farazi Fard; Mohammad Ali Faghihi
Journal:  Front Pediatr       Date:  2017-08-09       Impact factor: 3.418

6.  First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

Authors:  Alain Chebly; Sandra Corbani; Joelle Abou Ghoch; Cybel Mehawej; André Megarbane; Eliane Chouery
Journal:  BMC Med Genet       Date:  2018-09-10       Impact factor: 2.103
  6 in total

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