Literature DB >> 7542347

Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.

E Kanavakis, M Tzetis, T Antoniadi, J Trager-Synodinos, C Kattamis, S Doudounakis, G Adam.   

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Year:  1995        PMID： 7542347      PMCID： PMC1050447          DOI： 10.1136/jmg.32.5.406

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


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  8 in total

1.  Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteen-year period.

Authors:  H SHWACHMAN; L L KULCZYCKI
Journal:  AMA J Dis Child       Date:  1958-07

2.  Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Authors:  B S Kerem; J Zielenski; D Markiewicz; D Bozon; E Gazit; J Yahav; D Kennedy; J R Riordan; F S Collins; J M Rommens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

3.  Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Authors:  U B Gyllensten; H A Erlich
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

4.  Genotype-phenotype correlations in cystic fibrosis.

Authors:  B J Rosenstein
Journal:  Lancet       Date:  1994-03-26       Impact factor: 79.321

5.  Couple screening for cystic fibrosis.

Authors:  N J Wald; L M George; N M Wald; I Mackenzie
Journal:  Lancet       Date:  1993-11-20       Impact factor: 79.321

6.  Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.

Authors:  T Dörk; U Wulbrand; B Tümmler
Journal:  Genomics       Date:  1993-03       Impact factor: 5.736

7.  Genetic determination of exocrine pancreatic function in cystic fibrosis.

Authors:  P Kristidis; D Bozon; M Corey; D Markiewicz; J Rommens; L C Tsui; P Durie
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

8.  Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

Authors:  P Fanen; N Ghanem; M Vidaud; C Besmond; J Martin; B Costes; F Plassa; M Goossens
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736
  8 in total
  3 in total

1.  Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

Authors:  C Vazquez; G Antiñolo; T Casals; J Dapena; J Elorz; J L Seculi; J Sirvent; R Cabanas; C Soler; X Estivill
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

2.  Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.

Authors:  T Bienvenu; C Beldjord; J C Kaplan; D Hubert; D Dusser
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

3.  Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.

Authors:  Katiana Murieli da Rosa; Eliandra da Silveira de Lima; Camila Correia Machado; Thaiane Rispoli; Victória d'Azevedo Silveira; Renata Ongaratto; Talitha Comaru; Leonardo Araújo Pinto
Journal:  J Bras Pneumol       Date:  2018 Nov-Dec       Impact factor: 2.624
  3 in total

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