Literature DB >> 11917532

CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.

Julian Zielenski1, Isabel Aznarez, Tuncer Onay, John Tzounzouris, Danuta Markiewicz, Lap-Chee Tsui.   

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Year:  2002        PMID： 11917532     DOI： 10.1385/1-59259-187-6:03

Source DB:  PubMed          Journal:  Methods Mol Med        ISSN： 1543-1894


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  9 in total

1.  The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.

Authors:  Michele D Bishop; Steven D Freedman; Julian Zielenski; Najma Ahmed; Annie Dupuis; Sheelagh Martin; Lynda Ellis; Julie Shea; Isobel Hopper; Mary Corey; Paul Kortan; Gregory Haber; Christine Ross; John Tzountzouris; Leslie Steele; Peter N Ray; Lap-Chee Tsui; Peter R Durie
Journal:  Hum Genet       Date:  2005-09-29       Impact factor: 4.132

2.  The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants.

Authors:  M Mei-Zahav; P Durie; J Zielenski; M Solomon; E Tullis; L-C Tsui; M Corey
Journal:  Arch Dis Child       Date:  2005-07       Impact factor: 3.791

3.  Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

Authors:  Michael Wilschanski; Annie Dupuis; Lynda Ellis; Keith Jarvi; Julian Zielenski; Elizabeth Tullis; Sheelagh Martin; Mary Corey; Lap-Chee Tsui; Peter Durie
Journal:  Am J Respir Crit Care Med       Date:  2006-07-13       Impact factor: 21.405

Review 4.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

5.  Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

Authors:  N Ahmed; M Corey; G Forstner; J Zielenski; L-C Tsui; L Ellis; E Tullis; P Durie
Journal:  Gut       Date:  2003-08       Impact factor: 23.059

6.  Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.

Authors:  Sunil Sheth; Julie C Shea; Michele D Bishop; Sanjiv Chopra; Meredith M Regan; Emily Malmberg; Carolyn Walker; Ryan Ricci; Lap-Chee Tsui; Peter R Durie; Julian Zielenski; Steven D Freedman
Journal:  Hum Genet       Date:  2003-06-03       Impact factor: 4.132

7.  Ectopic notch activation in developing podocytes causes glomerulosclerosis.

Authors:  Aoife M Waters; Megan Y J Wu; Tuncer Onay; Jacob Scutaru; Ju Liu; Corrinne G Lobe; Susan E Quaggin; Tino D Piscione
Journal:  J Am Soc Nephrol       Date:  2008-03-12       Impact factor: 10.121

8.  Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

Authors:  Jenny L Kerschner; Sujana Ghosh; Alekh Paranjapye; Wilmel R Cosme; Marie-Pierre Audrézet; Miyuki Nakakuki; Hiroshi Ishiguro; Claude Férec; Johanna Rommens; Ann Harris
Journal:  J Mol Diagn       Date:  2018-10-05       Impact factor: 5.568

9.  Comparative‑high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations.

Authors:  Pawel Borun; Lukasz Kubaszewski; Tomasz Banasiewicz; Jaroslaw Walkowiak; Marzena Skrzypczak-Zielinska; Marta Kaczmarek-Rys; Andrzej Plawski
Journal:  Hum Genet       Date:  2014-05       Impact factor: 4.132
  9 in total

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