Published in Am J Med Genet on October 31, 1997
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet (2002) 1.66
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet (1998) 0.94
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Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet (1999) 1.78
BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet (1995) 1.75
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A domain shared by the Polycomb group proteins Scm and ph mediates heterotypic and homotypic interactions. Mol Cell Biol (1997) 1.63
Heritability of X chromosome--inactivation phenotype in a large family. Am J Hum Genet (1996) 1.62
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Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome. Am J Hum Genet (1998) 1.57
Linkage of tuberculosis to chromosome 2q35 loci, including NRAMP1, in a large aboriginal Canadian family. Am J Hum Genet (2000) 1.56
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The varying impact of type, timing and frequency of exposure to childhood adversity on its association with adult psychotic disorder. Psychol Med (2010) 1.49
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Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology (1996) 1.48
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Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia. J Lipid Res (2000) 1.46
Variation in the tumour necrosis factor gene is not associated with susceptibility to COPD. Eur Respir J (2007) 1.45
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J Clin Invest (1998) 1.45
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet (1995) 1.45
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A (2008) 1.44
The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. J Physiol (2001) 1.43
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr (2001) 1.42
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat (1998) 1.42
Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 1.41
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Lack of association between bipolar disorder and tyrosine hydroxylase: a meta-analysis. Am J Med Genet (1997) 1.40
Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren. Am J Hum Genet (1989) 1.40
Molecular analysis of blood group Rh transcripts from a rGr variant. Br J Haematol (1996) 1.40
Molecular characterization of the marker chromosome associated with cat eye syndrome. Am J Hum Genet (1994) 1.39
D-24851, a novel synthetic microtubule inhibitor, exerts curative antitumoral activity in vivo, shows efficacy toward multidrug-resistant tumor cells, and lacks neurotoxicity. Cancer Res (2001) 1.38
A review of ordinal regression models applied on health-related quality of life assessments. Stat Methods Med Res (2002) 1.37
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr (1991) 1.37
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Serum CK, calcium, magnesium, and oxidative phosphorylation in mdx mouse muscular dystrophy. Muscle Nerve (1988) 1.36
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet (1993) 1.36
Tracheal agenesis revisited: analysis of associated anomalies. Am J Med Genet (1999) 1.35
Flexibility of the shoulder joint measured as range of abduction in a large representative sample of men and women over 65 years of age. Eur J Appl Physiol Occup Physiol (1989) 1.35
Identification of polymorphisms and sequence variants in the human homologue of the mouse natural resistance-associated macrophage protein gene. Am J Hum Genet (1995) 1.35
Identification of proteins that interact with a protein of interest: applications of the yeast two-hybrid system. Mol Cell Biochem (1997) 1.35
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J Biol Chem (1988) 1.34
Lack of inducible nitric oxide synthase in bronchial epithelium: a possible mechanism of susceptibility to infection in cystic fibrosis. J Pathol (1998) 1.34
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet (1994) 1.33
Cumulative social disadvantage, ethnicity and first-episode psychosis: a case-control study. Psychol Med (2008) 1.32
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest (1993) 1.31
Schizophrenia and chromosome 6p. Am J Med Genet (1997) 1.31
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet (1999) 1.31
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31
Genetic variability of HLA in the Dariusleut Hutterites. A comparative genetic analysis of the Hutterities, the Amish, and other selected Caucasian populations. Am J Hum Genet (1980) 1.31
Sedative-hypnotic drug use and ageing. Arch Gerontol Geriatr (1983) 1.30