Research Topics
Species | C A MorrisSummaryAffiliation: University of Nevada Country: USA Publications
| Collaborators
|
Detail Information
Publications
BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndromeKendra W Kimberley
Department of Pediatrics Division of Genetics, University of Nevada School of Medicine, Las Vegas, NV, USA
BMC Med Genet 7:46. 2006..Recent studies have focused on possible duplications in the 8p22-8p23.1 region but no consensus has been reached...
Williams syndrome and related disordersC A Morris
Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, NV 89102, USA
Annu Rev Genomics Hum Genet 1:461-84. 2000..The understanding of these disorders has progressed from phenotypic description to identification of causative mutations and insight into pathogenetic mechanisms for some aspects of the phenotype...- GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome regionColleen A Morris
Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, Nevada 89102, USA
Am J Med Genet A 123:45-59. 2003..Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS... - Hemizygosity at the elastin locus in a developmental disorder, Williams syndromeA K Ewart
Department of Human Genetics, University of Utah, Salt Lake City 84112
Nat Genet 5:11-6. 1993..These data indicate that deletions involving one elastin allele cause WS and implicate elastin hemizygosity in the pathogenesis of the disease... - LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognitionJ M Frangiskakis
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA
Cell 86:59-69. 1996..Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition... - The effect of Johne's disease on production traits in Romney, Merino and Merino x Romney-cross ewesC A Morris
AgResearch, Ruakura Research Centre, Private Bag 3123, Hamilton, New Zealand
N Z Vet J 54:204-9. 2006..To quantify the effects of clinical Johne's disease on the performance of Romney, Merino and Merino x Romney-cross ewes... - Genotypic effects of calpain 1 and calpastatin on the tenderness of cooked M. longissimus dorsi steaks from Jersey x Limousin, Angus and Hereford-cross cattleC A Morris
AgResearch, Ruakura Research Centre, Private Bag 3123, Hamilton, New Zealand
Anim Genet 37:411-4. 2006..For the CAPN1 and CAST genotypes combined, the maximal genotype effect in average shear force was 25.7 +/- 5.5% (P < 0.001) at intermediate stages and 15.2 +/- 4.8% near ultimate tenderness (P < 0.01)... - The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosisM E Curran
Department of Human Genetics, University of Utah, Salt Lake City 84112
Cell 73:159-68. 1993..Taken together with our previous study linking SVAS to the elastin gene in two additional families and existing knowledge of vascular biology, these data suggest that mutations in the elastin gene can cause SVAS... - A novel human gene FKBP6 is deleted in Williams syndromeX Meng
Howard Hughes Medical Institute, University of Utah, Salt Lake City, Utah, 84112, USA
Genomics 52:130-7. 1998..Fluorescence in situ hybridization experiments show that FKBP6 gene is deleted in 40/40 WS individuals. Hemizygous deletion of FKBP6 may contribute to certain defects such as hypercalcemia and growth delay in WS... - Evaluation of single-nucleotide polymorphisms in CAPN1 for association with meat tenderness in cattleB T Page
USDA, ARS, U S Meat Animal Research Center, Clay Center, NE, USA
J Anim Sci 80:3077-85. 2002.... - Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosisD Y Li
Cardiology Division, University of Utah Health Sciences Center, Eccles Institute of Human Genetics, Salt Lake City 84112, USA
Hum Mol Genet 6:1021-8. 1997..Two of the mutations are nonsense, one is a single base pair deletion and four are splice site mutations. In one sporadic case, the mutation arose de novo. These data demonstrate that point mutations of ELN cause autosomal dominant SVAS... - Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genesX Meng
Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA
Hum Genet 103:590-9. 1998..BCL7B belongs to a novel family of highly conserved genes. We describe the expression profile and genomic structure for each of these genes. Hemizygous deletion of one or more of these genes may contribute to developmental defects in WS... - A novel human gene, WSTF, is deleted in Williams syndromeX Lu
Department of Human Genetics, University of Utah, Salt Lake City, Utah, 84112, USA
Genomics 54:241-9. 1998..The WSTF gene consists of 20 exons spanning about 80 kb. Fluorescence in situ hybridization analysis shows that WSTF is deleted in 50/50 WS individuals. Hemizygous deletion of WSTF may contribute to WS... 
Effects of the myostatin F94L substitution on beef traitsA K Esmailizadeh
School of Agriculture, Food and Wine, University of Adelaide, Roseworthy SA 5371 Australia
J Anim Sci 86:1038-46. 2008..05). The results provide strong evidence that this myostatin F94L variant provides an intermediate and more useful phenotype than the more severe double-muscling phenotype caused by knockout mutations in the myostatin gene...