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- Publications
- Influence
A second generation human haplotype map of over 3.1 million SNPs
- K. Frazer, D. Ballinger, +234 authors J. Stewart
- Biology, Medicine
- Nature
- 18 October 2007
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and… Expand
Identification of the cystic fibrosis gene: genetic analysis.
- B. Kerem, J. Rommens, +5 authors L. Tsui
- Biology
- 8 September 1989
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 acid… Expand
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
- B. Minassian, J. Lee, +16 authors S. Scherer
- Biology, Medicine
- Nature Genetics
- 1 October 1998
Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late… Expand
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
- E. Roessler, E. Belloni, +5 authors M. Muenke
- Biology, Medicine
- Nature Genetics
- 1 November 1996
Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes. HPE has a prevalence of 1:250 during… Expand
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas
- L. Schmidt, F. Duh, +32 authors B. Zbar
- Biology, Medicine
- Nature Genetics
- 1 May 1997
Hereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours1–4. The… Expand
Identification of the cystic fibrosis gene: Chromosome walking and jumping
- J. Rommens, M. Iannuzzi, +12 authors F. Collins
- Biology
- 8 September 1989
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 functional… Expand
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
- J. Riordan, J. Rommens, +11 authors L. Tsui
- Biology
- 8 September 1989
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 on chromosome 7.… Expand
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development.
The correct patterning of vertebrate skeletal elements is controlled by inductive interactions. Two vertebrate hedgehog proteins, Sonic hedgehog and Indian hedgehog, have been implicated in skeletal… Expand
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.
- D. Mishmar, A. Rahat, +13 authors B. Kerem
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 7 July 1998
Common fragile sites are chromosomal loci prone to breakage and rearrangement, hypothesized to provide targets for foreign DNA integration. We cloned a simian virus 40 integration site and showed by… Expand
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
- E. Belloni, M. Muenke, +13 authors S. Scherer
- Biology, Medicine
- Nature Genetics
- 1 November 1996
Holoprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and midface, with an incidence of 1:16,000 live born and 1:250 induced… Expand
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