Literature DB >> 2579301

Prenatal diagnosis of Cockayne's syndrome.

A R Lehmann, A J Francis, F Giannelli.   

Abstract

Cockayne's syndrome (CS) was diagnosed prenatally by examination of amniotic cells cultured in vitro. RNA synthesis after irradiation with ultraviolet light was abnormal in cells from a fetus with CS but not in cells from a fetus which was normal. The procedure is simple and rapid and the outcome of the test in two cases (one positive, one negative) was unambiguous.

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Year:  1985        PMID： 2579301     DOI： 10.1016/s0140-6736(85)92088-4

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  9 in total

Review 1.  Human DNA repair defects.

Authors:  C F Arlett
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.

Authors:  A R Lehmann; A F Thompson; S A Harcourt; M Stefanini; P G Norris
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

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.  The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.

Authors:  Yooksil Sin; Kiyoji Tanaka; Masafumi Saijo
Journal:  J Biol Chem       Date:  2015-11-30       Impact factor: 5.157

5.  Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.

Authors:  L Pasquier; V Laugel; L Lazaro; H Dollfus; H Journel; P Edery; A Goldenberg; D Martin; D Heron; M Le Merrer; P Rustin; S Odent; A Munnich; A Sarasin; V Cormier-Daire
Journal:  Arch Dis Child       Date:  2006-02       Impact factor: 3.791

6.  Stabilization of Ultraviolet (UV)-stimulated Scaffold Protein A by Interaction with Ubiquitin-specific Peptidase 7 Is Essential for Transcription-coupled Nucleotide Excision Repair.

Authors:  Mitsuru Higa; Xue Zhang; Kiyoji Tanaka; Masafumi Saijo
Journal:  J Biol Chem       Date:  2016-04-28       Impact factor: 5.157

7.  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

Review 8.  Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

Authors:  B C Broughton; A F Thompson; S A Harcourt; W Vermeulen; J H Hoeijmakers; E Botta; M Stefanini; M D King; C A Weber; J Cole
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

9.  Genetic analysis of twenty-two patients with Cockayne syndrome.

Authors:  M Stefanini; H Fawcett; E Botta; T Nardo; A R Lehmann
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132
  9 in total

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