Edinburgh Research Explorer A study of common Mendelian disease carriers across ageing British cohorts

1-antitrypsin deficiency

[1]  Mark C Simmonds,et al.  A general framework for the use of logistic regression models in meta-analysis , 2016, Statistical methods in medical research.

[2]  R. Stockley,et al.  PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD , 2015, Thorax.

[3]  Sandra Camprubí,et al.  SPARTA clinical trial design: exploring the efficacy and safety of two dose regimens of alpha1-proteinase inhibitor augmentation therapy in alpha1-antitrypsin deficiency. , 2015, Respiratory medicine.

[4]  Ben Jann,et al.  Plotting Regression Coefficients and other Estimates , 2014 .

[5]  F. Serres,et al.  Role of alpha‐1 antitrypsin in human health and disease , 2014, Journal of internal medicine.

[6]  X. Mai,et al.  Lung Function and Respiratory Symptoms in Association with Mortality: The HUNT Study , 2014, COPD.

[7]  Tom R. Gaunt,et al.  Molecular and Population Analysis of Natural Selection on the Human Haptoglobin Duplication , 2012, Annals of human genetics.

[8]  Cameron D. Palmer,et al.  Evidence of widespread selection on standing variation in Europe at height-associated SNPs , 2012, Nature Genetics.

[9]  S. Stanojevic,et al.  Multi-ethnic reference values for spirometry for the 3–95-yr age range: the global lung function 2012 equations , 2012, European Respiratory Journal.

[10]  T. Zglinicki,et al.  A life course approach to healthy ageing: the HALCyon programme. , 2012, Public health.

[11]  I. Deary,et al.  Absence of association of a single-nucleotide polymorphism in the TERT-CLPTM1L locus with age-related phenotypes in a large multicohort study: the HALCyon programme , 2011, Aging cell.

[12]  P. Visscher,et al.  Common SNPs explain a large proportion of the heritability for human height , 2010, Nature Genetics.

[13]  M. Marmot,et al.  Does cognition predict mortality in midlife? Results from the Whitehall II cohort study , 2010, Neurobiology of Aging.

[14]  B. Andresen,et al.  Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants , 2008, Journal of medical screening.

[15]  D. Strachan,et al.  Early influences on adult lung function in two national British cohorts , 2007, Archives of Disease in Childhood.

[16]  D. Lomas The Selective Advantage of 1-Antitrypsin Deficiency , 2006 .

[17]  J. Pritchard,et al.  A Map of Recent Positive Selection in the Human Genome , 2006, PLoS biology.

[18]  E. Silverman,et al.  Chronic obstructive pulmonary disease in α1-antitrypsin PI MZ heterozygotes: a meta-analysis , 2004, Thorax.

[19]  M. Slatkin,et al.  Estimating allele age. , 2003, Annual review of genomics and human genetics.

[20]  J. Zschocke Phenylketonuria mutations in Europe , 2003, Human mutation.

[21]  Lynne Prevost,et al.  PAHdb 2003: What a locus‐specific knowledgebase can do , 2003, Human mutation.

[22]  Pardis C Sabeti,et al.  Detecting recent positive selection in the human genome from haplotype structure , 2002, Nature.

[23]  S. Gabriel,et al.  The Structure of Haplotype Blocks in the Human Genome , 2002, Science.

[24]  A Whitehead,et al.  Meta‐analysis of continuous outcome data from individual patients , 2001, Statistics in medicine.

[25]  M. Pembrey,et al.  α1-ANTITRYPSIN PHENOTYPES IN RHEUMATOID ARTHRITIS AND ANKYLOSING SPONDYLITIS , 1977, The Lancet.

[26]  B. Nordestgaard,et al.  Molecular diagnosis of intermediate and severe alpha(1)-antitrypsin deficiency: MZ individuals with chronic obstructive pulmonary disease may have lower lung function than MM individuals. , 2001, Clinical chemistry.

[27]  A. Amorim,et al.  Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism , 2000, Human Genetics.

[28]  L. Filer,et al.  Plasma phenylalanine levels in phenylketonuric heterozygous and normal adults administered aspartame at 34 mg/kg body weight. , 1981, Toxicology.