Now showing items 1-10 of 54
NF1-related locus on chromosome 15
(Elsevier, 1992-08)
A neurofibromatosis type I (NF1)-related locus has been identified on chromosome 15. It contains a partial copy of the NF1 GAP-related domain, which is known to interact with the ras protooncogenes. However, the chromosome ...
Refined localization of human connexin32 gene locus, GJB1, to Xq13.1
(Elsevier, 1992-06)
Connexins are the peptide subunits of gap junctions that interconnect cells to allow the direct, intercellular transfer of small molecules. Recently, the human connexin32 gene (locus designation GJB1) has been regionally ...
Genotypes with the apolipoprotein Â4 allele are predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men
(Springer-Verlag; Springer-Verlag Berlin Heidelberg, 1996-03)
Earlier we reported that allelic variation in the gene coding for apolipoprotein (apoE) is a significant predictor of variation in the risk of coronary heart disease (CHD) death in a longitudinal study of elderly Finnish ...
Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia
(Wiley Subscription Services, Inc., A Wiley Company, 1997-08-22)
Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and ...
Characterization of the human gene for a newly discovered carbonic anhydrase, CA VII, and its localization to chromosome 16
(Elsevier, 1991-12)
Six carbonic anhydrase (CA) isozymes (CA I-VI) in mammals and other amniotes have been described. We have isolated an additional CA gene from a human genomic library and designated its putative product carbonic anhydrase ...
Characterization of the genes encoding carbonic anhydrase I of chimpanzee and gorilla: comparative analysis of 5' flanking erythroid-specific promoter sequences
(Elsevier, 1993-09-15)
The genes encoding carbonic anhydrase I (CA I) have been characterized for chimpanzee (Pan troglodytes) and gorilla (Gorilla gorilla). In addition, 44 nucleotides (nt) at the 5' end of the noncoding first exon (exon la), ...
mnd2: A New Mouse Model of Inherited Motor Neuron Disease
(Elsevier, 1993-06)
The autosomal recessive mutation mnd2 results in early onset motor neuron disease with rapidly progressive paralysis, severe muscle wasting, regression of thymus and spleen, and death before 40 days of age. mnd2 has been ...
Localization of the panhypopituitary dwarf mutation (df) on mouse chromosome 11 in an intersubspecific backross
(Elsevier, 1991-07)
Ames dwarf (df) is an autosomal recessive mutation characterized by severe dwarfism and infertility. This mutation provides a mouse model for panhypopituitarism. The dwarf phenotype results from failure in the differentiation ...
Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth
(John Wiley & Sons, Inc., 1998-01-06)
We report on a family with early-onset sensorineural hearing loss, abnormal retinal pigment epithelium granularity, accumulation of creamy-white lesions at the level of the retinal pigment epithelium particularly superior ...
An assessment of teratology training provided by masters level genetic counseling programs
(Kluwer Academic Publishers-Human Sciences Press; National Society of Genetic Counselors, Inc. ; Springer Science+Business Media, 1995-12)
The increasing demand in the clinical genetics setting for information about teratogen exposures has created a need for genetic counselors to have the capabilities to appropriately address patient concerns. In order to ...