Julian Zielenski

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Publications in SciGraph latest 50 shown

  • 2013-10 Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene in NATURE GENETICS
  • 2012-05 Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis in NATURE GENETICS
  • 2011-07 Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection in GENES & IMMUNITY
  • 2011-06 Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 in NATURE GENETICS
  • 2011-04-11 Evaluation of the Disease Liability of CFTR Variants in CYSTIC FIBROSIS
  • 2010-09 Prostaglandin-endoperoxide synthase genesCOX1 andCOX2 — novel modifiers of disease severity in cystic fibrosis patients in JOURNAL OF APPLIED GENETICS
  • 2009-12 Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results in HUMAN GENETICS
  • 2009-08 Normalization of obesity-associated insulin resistance through immunotherapy in NATURE MEDICINE
  • 2008-03 Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening in GENETICS IN MEDICINE
  • 2005-12 The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis in HUMAN GENETICS
  • 2003-08 Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis in HUMAN GENETICS
  • 2002-03-04 CFTR Mutation Detection by Multiplex Heteroduplex (mHET) Analysis on MDE Gel in CYSTIC FIBROSIS METHODS AND PROTOCOLS
  • 2000-12 Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2000-03 Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A) in HUMAN GENETICS
  • 2000-03 Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe in HUMAN GENETICS
  • 1999-06 Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 in NATURE GENETICS
  • 1998-02 Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I) in HUMAN GENETICS
  • 1996-03 Screening for genetic mutations in NATURE
  • 1992-02 Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families in HUMAN GENETICS
  • 1992-02 Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism in HUMAN GENETICS
  • 1992-01 Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in HUMAN GENETICS
  • 1991 Molecular Genetics of Cystic Fibrosis in THE IDENTIFICATION OF THE CF (CYSTIC FIBROSIS) GENE
  • 1990-07 A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein in NATURE
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