Citation Impact
2.547 - 2-year Impact Factor
2.777 - 5-year Impact Factor
0.995 - Source Normalized Impact per Paper (SNIP)
1.025 - SCImago Journal Rank (SJR)
Usage
612,068 Downloads
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Page 41 of 41
Currently molecular diagnostic laboratories focus only on the identification of large deletion and duplication mutations (spanning one exon or more) for Duchenne Muscular Dystrophy (DMD) yielding 65% of causat...
Citation: BMC Genetics 2001 2:17
Citation: BMC Genetics 2001 2:16
Two common southern African mice species, Mastomys coucha and M. natalensis, are widely distributed throughout the subregion and overlap in many areas. They also share a high degree of morphological similarity, m...
Citation: BMC Genetics 2001 2:15
Genomic instability has been reported at microsatellite tracts in few coding sequences. We have shown that the Bloom syndrome BLM gene may be a target of microsatelliteinstability (MSI) in a short poly-adenine re...
Citation: BMC Genetics 2001 2:14
The phylogeographic distribution of human mitochondrial DNA variations allows a genetic approach to the study of modern Homo sapiens dispersals throughout the world from a female perspective. As a new contributio...
Citation: BMC Genetics 2001 2:13
Little is known about genetic factors affecting intraocular pressure (IOP) in mice and other mammals. The purpose of this study was to determine the IOPs of genetically distinct mouse strains, assess the effec...
Citation: BMC Genetics 2001 2:12
Gene targeting would offer a number of advantages over current transposon-based strategies for insect transformation. These include freedom from both position effects associated with quasi-random integration a...
Citation: BMC Genetics 2001 2:11
Blood group genotyping is increasingly utilized for prenatal diagnosis and after recent transfusions, but still lacks the specificity of serology. In whites, the presence of antigen D is predicted, if two or m...
Citation: BMC Genetics 2001 2:10
Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease...
Citation: BMC Genetics 2001 2:9
Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated ...
Citation: BMC Genetics 2001 2:8
An A54T polymorphism at the fatty acid binding protein 2 (FABP2) locus was found to be associated with insulin resistance in non-diabetic Pima Indians. To see whether this association is present in other popul...
Citation: BMC Genetics 2001 2:7
The association between the human cytotoxic T lymphocyte-associated antigen-4 (CTLA4) gene and insulin-dependent diabetes mellitus (IDDM) is unclear in populations. We therefore investigated whether the gene c...
Citation: BMC Genetics 2001 2:6
Glucose repression of transcription in the yeast, Saccharomyces cerevisiae, has been shown to be controlled by several factors, including two repressors called Mig1 and Mig2. Past results suggest that other repre...
Citation: BMC Genetics 2001 2:5
A growing number of laboratories are using the mouse as a model system in developmental biology as well as in molecular biology. Surprisingly, most of these laboratories do not have reliable computerized syste...
Citation: BMC Genetics 2001 2:4
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrop...
Citation: BMC Genetics 2001 2:3
Rab GTPases are regulators of intracellular membrane traffic. The Rab27 subfamily consists of Rab27a and Rab27b. Rab27a has been recently implicated in Griscelli Disease, a disease combining partial albinism w...
Citation: BMC Genetics 2001 2:2
Glaucoma is a common disease but its molecular etiology is poorly understood. It involves retinal ganglion cell death and optic nerve damage that is often associated with elevated intraocular pressure. Identif...
Citation: BMC Genetics 2001 2:1
The family of Fragile X Mental Retardation Proteins is composed of three members: Fragile Mental Retardation 1, Fragile X Related 1 and X Related 2 proteins. These proteins are associated with mRNPs within tra...
Citation: BMC Genetics 2000 1:4
To date, in eukaryotes, ribosomal protein expression is known to be regulated at the transcriptional and/or translational levels. But other forms of regulation may be possible.
Citation: BMC Genetics 2000 1:3
The role of glucokinase (GCK) in the pathogenesis of maturity-onset diabetes of the young is well established. However, its role in the common form of type 2 diabetes is far from convincing. We investigated th...
Citation: BMC Genetics 2000 1:2
Versatile transgenic manipulation of skeletal muscle requires knowledge of the expression profiles of diverse promoter/enhancer elements in the transcriptionally specialized fiber types of which muscle is comp...
Citation: BMC Genetics 2000 1:1
Citation Impact
2.547 - 2-year Impact Factor
2.777 - 5-year Impact Factor
0.995 - Source Normalized Impact per Paper (SNIP)
1.025 - SCImago Journal Rank (SJR)
Usage
612,068 Downloads
220 Altmetric Mentions
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