Literature DB >> 7847393

Cystic fibrosis carrier screening in Hispanics.

I I Arzimanoglou, A Tuchman, Z Li, F Gilbert, C Denning, K Valverde, H Zar, L Quittell, I Arzimanoglou.   

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Year:  1995        PMID: 7847393      PMCID: PMC1801132     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  8 in total

1.  The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

Authors:  P Gasparini; V Nunes; A Savoia; M Dognini; N Morral; A Gaona; A Bonizzato; M Chillon; F Sangiuolo; G Novelli
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

2.  mtDNA and Native Americans: a Southern perspective.

Authors:  R L Cann
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

3.  Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.

Authors:  P Gasparini; C Marigo; G Bisceglia; E Nicolis; L Zelante; C Bombieri; G Borgo; P F Pignatti; G Cabrini
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

4.  Genetic analysis of Hispanic individuals with cystic fibrosis.

Authors:  T A Grebe; W K Seltzer; J DeMarchi; D K Silva; W W Doane; D Gozal; S F Richter; C M Bowman; R A Norman; S N Rhodes
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

5.  Cystic fibrosis in blacks in Washington, DC: incidence and characteristics.

Authors:  L L Kulczycki; V Schauf
Journal:  Am J Dis Child       Date:  1974-01

6.  Genetic studies on cystic fibrosis in Hawaii.

Authors:  S W Wright; N E Morton
Journal:  Am J Hum Genet       Date:  1968-03       Impact factor: 11.025

7.  Analysis of 14 cystic fibrosis mutations in five south European populations.

Authors:  V Nunes; P Gasparini; G Novelli; A Gaona; A Bonizzato; F Sangiuolo; A Balassopoulou; F J Giménez; M Dognini; M Ravnik-Glavac
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

8.  Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Authors:  G R Cutting; S M Curristin; E Nash; B J Rosenstein; I Lerer; D Abeliovich; A Hill; C Graham
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

  8 in total
  6 in total

1.  Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

Authors:  Iris Schrijver; Sudha Ramalingam; Ramalingam Sankaran; Steve Swanson; Charles L M Dunlop; Steven Keiles; Richard B Moss; John Oehlert; Phyllis Gardner; E Robert Wassman; Anja Kammesheidt
Journal:  J Mol Diagn       Date:  2005-05       Impact factor: 5.568

2.  Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.

Authors:  Iris Schrijver; Krista Rappahahn; Lynn Pique; Martin Kharrazi; Lee-Jun Wong
Journal:  J Mol Diagn       Date:  2008-06-13       Impact factor: 5.568

3.  A rational approach to cystic fibrosis mutation analysis in Hispanics: reply to Arzimanoglou et al.

Authors:  T A Grebe; W W Doane; S F Richter; W K Seltzer; K D Jain
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  Novel mutations in PDE6B causing human retinitis pigmentosa.

Authors:  Lu-Lu Cheng; Ru-Yi Han; Fa-Yu Yang; Xin-Ping Yu; Jin-Ling Xu; Qing-Jie Min; Jie Tian; Xiang-Lian Ge; Si-Si Zheng; Ye-Wen Lin; Yi-Han Zheng; Jia Qu; Feng Gu
Journal:  Int J Ophthalmol       Date:  2016-08-18       Impact factor: 1.779

5.  Cystic fibrosis heterozygote screening in 5,161 pregnant women.

Authors:  D R Witt; C Schaefer; P Hallam; S Wi; B Blumberg; A Fishbach; J Holtzman; S Kornfeld; R Lee; L Nemzer; R Palmer
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

6.  Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.

Authors:  L R Desviat; B Pérez; M De Lucca; V Cornejo; B Schmidt; M Ugarte
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

  6 in total

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