Michael R Knowles


Ontology type: schema:Person     


Person Info

NAME

Michael R

SURNAME

Knowles

Publications in SciGraph latest 50 shown

  • 2018-12 Improving imputation in disease-relevant regions: lessons from cystic fibrosis in NPJ GENOMIC MEDICINE
  • 2017-05-25 Corrigendum: Novel variation at chr11p13 associated with cystic fibrosis lung disease severity in HUMAN GENOME VARIATION
  • 2016-12 Novel variation at chr11p13 associated with cystic fibrosis lung disease severity in HUMAN GENOME VARIATION
  • 2016-12 Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits in HUMAN GENOME VARIATION
  • 2015-12 Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis in NATURE COMMUNICATIONS
  • 2014-12 Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia in NATURE COMMUNICATIONS
  • 2013-09 DYX1C1 is required for axonemal dynein assembly and ciliary motility in NATURE GENETICS
  • 2012-08 Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis 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
  • 2011-06 Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 in NATURE GENETICS
  • 2011-03 Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing in GENETICS IN MEDICINE
  • 2010-12 Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report in JOURNAL OF MEDICAL CASE REPORTS
  • 2010-01-29 Primary Ciliary Dyskinesia in MOLECULAR BASIS OF PULMONARY DISEASE
  • 2009-09 A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis in DIABETOLOGIA
  • 2009-07 Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome in GENETICS IN MEDICINE
  • 2009-04 Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease in NATURE
  • 2008-09 Modulation of cystic fibrosis lung disease by variants in interleukin-8 in GENES & IMMUNITY
  • 2006 Primary Ciliary Dyskinesia in PRINCIPLES OF MOLECULAR MEDICINE
  • 2002-10 The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis in GENETICS IN MEDICINE
  • 2002-02 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry in NATURE GENETICS
  • 2001-12 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations in RESPIRATORY RESEARCH
  • 2000-11 Basal Nucleotide Levels, Release, and Metabolism in Normal and Cystic Fibrosis Airways in MOLECULAR MEDICINE
  • 1999-06 Pharmaceutical Dry Powder Aerosols: Correlation of Powder Properties with Dose Delivery and Implications for Pharmacodynamic Effect in PHARMACEUTICAL RESEARCH
  • 1996-04 IMPAIRMENT OF NASAL Na+ TRANSPORT IN VERY PRETERM INFANTS WITH RESPIRATORY DISTRESS SYNDROME (RDS). • 1982 in PEDIATRIC RESEARCH
  • 1995 Mechanisms and Therapeutic Actions of Uridine Triphosphate in the Lung in ADENOSINE AND ADENINE NUCLEOTIDES: FROM MOLECULAR BIOLOGY TO INTEGRATIVE PHYSIOLOGY
  • 1991 Aerosolized Amiloride as Treatment of Cystic Fibrosis Lung Disease: A Pilot Study in THE IDENTIFICATION OF THE CF (CYSTIC FIBROSIS) GENE
  • 1991 Mutation Analysis for Cystic Fibrosis in a North American Population in THE IDENTIFICATION OF THE CF (CYSTIC FIBROSIS) GENE
  • 1991 Ion Transport in Normal and CF Airway Epithelia in THE IDENTIFICATION OF THE CF (CYSTIC FIBROSIS) GENE
  • 1987 Development of Epithelial Ion Transport in Fetal and Neonatal Airways in PHYSIOLOGY OF THE FETAL AND NEONATAL LUNG
  • 1986-12 Oxygen Consumption and Ouabain Binding Sites in Cystic Fibrosis Nasal Epithelium in PEDIATRIC RESEARCH
  • 1985-07 Aldosterone Metabolism and Transepithelial Potential Difference in Normal and Cystic Fibrosis Subjects in PEDIATRIC RESEARCH
  • 1985-04 1399 NASAL ELECTRIC POTENTIAL DIFFERENCE AND RESPONSE TO AMILORIDE SUPERFUSION IN NEONATES in PEDIATRIC RESEARCH
  • 1984-12 Cl- Permeabilities in Red Blood Cells and Peripheral Blood Lymphocytes from Cystic Fibrosis and Control Subjects in PEDIATRIC RESEARCH
  • 1983-12 Epithelial dysfunction in cystic fibrosis lung disease in LUNG
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