Literature DB >> 1770535

Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene.

G Chalkley1, A Harris.   

Abstract

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Year:  1991        PMID： 1770535      PMCID： PMC1017114          DOI： 10.1136/jmg.28.11.777

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA.

Authors:  R G Roberts; D R Bentley; T F Barby; E Manners; M Bobrow
Journal:  Lancet       Date:  1990 Dec 22-29       Impact factor: 79.321

2.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

3.  Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.

Authors:  P Chomczynski; N Sacchi
Journal:  Anal Biochem       Date:  1987-04       Impact factor: 3.365

4.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

5.  Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.

Authors:  L P Berg; K Wieland; D S Millar; M Schlösser; M Wagner; V V Kakkar; J Reiss; D N Cooper
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

6.  Direct detection of point mutations by mismatch analysis: application to haemophilia B.

Authors:  A J Montandon; P M Green; F Giannelli; D R Bentley
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971

7.  Transcription of the dystrophin gene in human muscle and non-muscle tissue.

Authors:  J Chelly; J C Kaplan; P Maire; S Gautron; A Kahn
Journal:  Nature       Date:  1988-06-30       Impact factor: 49.962

8.  Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease.

Authors:  J M Chirgwin; A E Przybyla; R J MacDonald; W J Rutter
Journal:  Biochemistry       Date:  1979-11-27       Impact factor: 3.162

9.  Expression of the cystic fibrosis gene in human development.

Authors:  A Harris; G Chalkley; S Goodman; L Coleman
Journal:  Development       Date:  1991-09       Impact factor: 6.868
  9 in total
  14 in total

Review 1.  Single gene disorders affecting the gastrointestinal tract.

Authors:  G R Taylor; S M Farmery
Journal:  Gut       Date:  1993-04       Impact factor: 23.059

2.  In vivo analysis of DNase I hypersensitive sites in the human CFTR gene.

Authors:  D S Moulin; A L Manson; H N Nuthall; D J Smith; C Huxley; A Harris
Journal:  Mol Med       Date:  1999-04       Impact factor: 6.354

3.  Characterization of a large human transgene following invasin-mediated delivery in a bacterial artificial chromosome.

Authors:  Austin E Gillen; Catherine A Lucas; Pei Ling Haussecker; Steven T Kosak; Ann Harris
Journal:  Chromosoma       Date:  2013-06-09       Impact factor: 4.316

4.  Analysis of DNase-I-hypersensitive sites at the 3' end of the cystic fibrosis transmembrane conductance regulator gene (CFTR).

Authors:  H N Nuthall; D S Moulin; C Huxley; A Harris
Journal:  Biochem J       Date:  1999-08-01       Impact factor: 3.857

5.  An ovine CFTR variant as a putative cystic fibrosis causing mutation.

Authors:  S J Tebbutt; A Harris; D F Hill
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

6.  HNF1alpha is involved in tissue-specific regulation of CFTR gene expression.

Authors:  Nathalie Mouchel; Sytse A Henstra; Victoria A McCarthy; Sarah H Williams; Marios Phylactides; Ann Harris
Journal:  Biochem J       Date:  2004-03-15       Impact factor: 3.857

7.  Alternative splicing of the ovine CFTR gene.

Authors:  Fiona C Broackes-Carter; Sarah H Williams; Pei Ling Wong; Nathalie Mouchel; Ann Harris
Journal:  Mamm Genome       Date:  2003-11       Impact factor: 2.957

8.  Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.

Authors:  R Rolfini; G Cabrini
Journal:  J Clin Invest       Date:  1993-12       Impact factor: 14.808

9.  Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.

Authors:  T Shoshani; E Kerem; A Szeinberg; A Augarten; Y Yahav; D Cohen; J Rivlin; A Tal; B Kerem
Journal:  J Clin Invest       Date:  1994-04       Impact factor: 14.808

10.  Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.

Authors:  T Bienvenu; D Hubert; N Fonknechten; D Dusser; J C Kaplan; C Beldjord
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132
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