Mammographic breast density as an intermediate phenotype for breast cancer
The amount of radiologically dense breast-tissue appearing on a mammogram varies
between women because of differences in the composition of breast tissue, and is referred …
between women because of differences in the composition of breast tissue, and is referred …
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
JR Riordan, JM Rommens, B Kerem, NOA Alon… - Science, 1989 - science.org
Overlapping complementary DNA clones were isolated from epithelial cell libraries with a
genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is …
genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is …
Identification of the cystic fibrosis gene: chromosome walking and jumping
JM Rommens, MC Iannuzzi, B Kerem, ML Drumm… - Science, 1989 - science.org
An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning
of the cystic fibrosis gene and definition of its protein product. In the absence of direct …
of the cystic fibrosis gene and definition of its protein product. In the absence of direct …
Identification of the cystic fibrosis gene: genetic analysis
B Kerem, JM Rommens, JA Buchanan, D Markiewicz… - Science, 1989 - science.org
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …
The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
PC Bull, GR Thomas, JM Rommens, JR Forbes… - Nature …, 1993 - nature.com
Wilson disease (WD) is an autosomal recessive disorder of copper transport, resulting in
copper accumulation and toxicity to the liver and brain. The gene (WD) has been mapped to …
copper accumulation and toxicity to the liver and brain. The gene (WD) has been mapped to …
Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia
MHGP Raaijmakers, S Mukherjee, S Guo, S Zhang… - Nature, 2010 - nature.com
Mesenchymal cells contribute to the 'stroma'of most normal and malignant tissues, with
specific mesenchymal cells participating in the regulatory niches of stem cells. By examining …
specific mesenchymal cells participating in the regulatory niches of stem cells. By examining …
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
B Brais, JP Bouchard, YG Xie, DL Rochefort… - Nature …, 1998 - nature.com
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset
disease with a world-wide distribution1. It usually presents in the sixth decade with …
disease with a world-wide distribution1. It usually presents in the sixth decade with …
Mammographic density: a heritable risk factor for breast cancer
NF Boyd, LJ Martin, JM Rommens, AD Paterson… - Cancer epidemiology …, 2009 - Springer
The appearance of the breast on mammography varies among women, reflecting variations
in tissue composition. Stroma and epithelium attenuate x-rays more than fat and appear light …
in tissue composition. Stroma and epithelium attenuate x-rays more than fat and appear light …
Mutations in SBDS are associated with Shwachman–Diamond syndrome
GRB Boocock, JA Morrison, M Popovic, N Richards… - Nature …, 2003 - nature.com
Abstract Shwachman–Diamond syndrome (SDS; OMIM 260400) is an autosomal recessive
disorder with clinical features that include pancreatic exocrine insufficiency, hematological …
disorder with clinical features that include pancreatic exocrine insufficiency, hematological …
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
T Matsuura, JS Sutcliffe, P Fang, RJ Galjaard, Y Jiang… - Nature …, 1997 - nature.com
Angelman syndrome (AS) is associated with maternal deletions of human chromosome
15q11–q13 and with paternal uniparental disomy for this region indicating that deficiency of …
15q11–q13 and with paternal uniparental disomy for this region indicating that deficiency of …