Literature DB >> 1709137

A tetranucleotide repeat polymorphism in the cystic fibrosis gene.

P Gasparini1, M Dognini, A Bonizzato, P F Pignatti, N Morral, X Estivill.   

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Year:  1991        PMID： 1709137     DOI： 10.1007/bf00201556

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  2 in total

1.  A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.

Authors:  X Estivill; M Farrall; P J Scambler; G M Bell; K M Hawley; N J Lench; G P Bates; H C Kruyer; P A Frederick; P Stanier
Journal:  Nature       Date:  1987 Apr 30-May 6       Impact factor: 49.962

2.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728
  2 in total
  10 in total

1.  Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

Authors:  T Dörk; T Neumann; U Wulbrand; B Wulf; N Kälin; G Maass; M Krawczak; H Guillermit; C Ferec; G Horn
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

2.  Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specific language impairment.

Authors:  Christopher W Bartlett; Judy F Flax; Mark W Logue; Brett J Smith; Veronica J Vieland; Paula Tallal; Linda M Brzustowicz
Journal:  Hum Hered       Date:  2004       Impact factor: 0.444

3.  Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

Authors:  M Claustres; M Desgeorges; P Kjellberg; C Tissot; J Demaille
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

4.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

5.  Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis.

Authors:  H Sereth; T Shoshani; N Bashan; B S Kerem
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

6.  Worldwide genetic analysis of the CFTR region.

Authors:  E Mateu; F Calafell; O Lao; B Bonné-Tamir; J R Kidd; A Pakstis; K K Kidd; J Bertranpetit
Journal:  Am J Hum Genet       Date:  2000-12-04       Impact factor: 11.025

7.  Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

Authors:  J Zielenski; T M Fujiwara; D Markiewicz; A J Paradis; A I Anacleto; B Richards; R H Schwartz; K W Klinger; L C Tsui; K Morgan
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

8.  Association of specific language impairment (SLI) to the region of 7q31.

Authors:  Erin K O'Brien; Xuyang Zhang; Carla Nishimura; J Bruce Tomblin; Jeffrey C Murray
Journal:  Am J Hum Genet       Date:  2003-04-29       Impact factor: 11.025

9.  Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Authors:  N Morral; R Llevadot; T Casals; P Gasparini; M Macek; T Dörk; X Estivill
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

10.  N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing.

Authors:  Raëd Farhat; Géraldine Puissesseau; Ayman El-Seedy; Marie-Claude Pasquet; Catherine Adolphe; Sandra Corbani; André Megarbané; Alain Kitzis; Véronique Ladeveze
Journal:  Biomed Res Int       Date:  2015-05-17       Impact factor: 3.411
  10 in total

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