Literature DB >> 19359497

Cystic fibrosis testing comes of age.

Wayne W Grody1.   

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Year:  2009        PMID： 19359497      PMCID： PMC2671332          DOI： 10.2353/jmoldx.2009.090024

Source DB:  PubMed          Journal:  J Mol Diagn        ISSN： 1525-1578            Impact factor:   5.568


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  17 in total

1.  In-frame deletions of BRCA1 may define critical functional domains.

Authors:  E M Rohlfs; C H Chung; Q Yang; C Skrzynia; W W Grody; M L Graham; L M Silverman
Journal:  Hum Genet       Date:  2000-10       Impact factor: 4.132

2.  Quest for controls in molecular genetics.

Authors:  Wayne W Grody
Journal:  J Mol Diagn       Date:  2003-11       Impact factor: 5.568

3.  Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

Authors:  Feras M Hantash; Joy B Redman; Kelsey Starn; Ben Anderson; Arlene Buller; Matthew J McGinniss; Franklin Quan; Mei Peng; Weimin Sun; Charles M Strom
Journal:  Hum Genet       Date:  2005-12-17       Impact factor: 4.132

4.  40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the Cystic Fibrosis Transmembrane Conductance Regulator gene.

Authors:  F Chevalier-Porst; A M Bonardot; J P Chazalette; M Mathieu; D Bozon
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

5.  One multiplex control for 29 cystic fibrosis mutations.

Authors:  Roger V Lebo; Michelle Bixler; Donna Galehouse
Journal:  Genet Test       Date:  2007

6.  Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.

Authors:  Siby Sebastian; Silvia G Spitzer; Leonard E Grosso; Jean Amos; Frederick V Schaefer; Elaine Lyon; Daynna J Wolff; Atieh Hajianpour; Annette K Taylor; Alison Millson; Timothy T Stenzel
Journal:  Clin Chem       Date:  2004-01       Impact factor: 8.327

7.  Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

Authors:  Ozgül M Alper; Lee-Jun C Wong; Suzanne Young; Michelle Pearl; Steve Graham; John Sherwin; Eliezer Nussbaum; Dennis Nielson; Arnold Platzker; Zoe Davies; Allan Lieberthal; Terry Chin; Greg Shay; Karen Hardy; Martin Kharrazi
Journal:  Hum Mutat       Date:  2004-10       Impact factor: 4.878

8.  Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.

Authors:  R A Heim; E A Sugarman; B A Allitto
Journal:  Genet Med       Date:  2001 May-Jun       Impact factor: 8.822

9.  Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

Authors:  W W Grody; G R Cutting; K W Klinger; C S Richards; M S Watson; R J Desnick
Journal:  Genet Med       Date:  2001 Mar-Apr       Impact factor: 8.822

10.  Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

Authors:  Michael S Watson; Garry R Cutting; Robert J Desnick; Deborah A Driscoll; Katherine Klinger; Michael Mennuti; Glenn E Palomaki; Bradley W Popovich; Victoria M Pratt; Elizabeth M Rohlfs; Charles M Strom; C Sue Richards; David R Witt; Wayne W Grody
Journal:  Genet Med       Date:  2004 Sep-Oct       Impact factor: 8.822
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  1 in total

1.  The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

Authors:  Daniel H Farkas; Nicholas E Miltgen; Jay Stoerker; Dirk van den Boom; W Edward Highsmith; Lesley Cagasan; Ron McCullough; Reinhold Mueller; Lin Tang; John Tynan; Courtney Tate; Allan Bombard
Journal:  J Mol Diagn       Date:  2010-07-08       Impact factor: 5.568
  1 in total

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