Published in Am J Hum Genet on August 01, 1987
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet (1996) 1.20
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Am J Hum Genet (1990) 1.18
Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet (1988) 1.16
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity. Am J Hum Genet (1990) 1.06
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet (1990) 1.01
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
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes. Am J Hum Genet (1992) 0.79
Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I. Am J Hum Genet (1992) 0.77
The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein. Reprod Biol Endocrinol (2004) 0.75
Contiguous Xp11.4 Gene Deletion Leading to Ornithine Transcarbamylase Deficiency Detected by High-density Single-nucleotide Array. Clin Pediatr Endocrinol (2010) 0.75
Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08
High resolution of human chromosomes. Science (1976) 5.56
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A (1985) 5.50
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res (1982) 4.67
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature (1986) 3.62
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science (1984) 3.56
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet (1985) 3.08
Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet (1981) 1.97
Regional localization of 18 human X-linked DNA sequences. Cytogenet Cell Genet (1986) 1.48
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A (1986) 1.27
Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry. Hum Genet (1986) 1.16
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. Clin Genet (1985) 1.13
X;autosome translocations in females with Duchenne or Becker muscular dystrophy. Nature (1986) 1.12
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families. Hum Genet (1985) 1.09
A DNA marker for human chromosome 8 that detects alleles of differing sizes. Cytogenet Cell Genet (1986) 1.08
'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency. Clin Chim Acta (1982) 0.94
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet (1975) 3.81
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med (1998) 3.28
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet (2001) 2.68
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genet (1992) 2.39
Down syndrome and recent demographic trends in Manitoba. J Med Genet (1978) 2.34
Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases. Lancet (1976) 2.22
Human genes encoding prothrombin and ceruloplasmin map to 11p11-q12 and 3q21-24, respectively. Somat Cell Mol Genet (1987) 2.21
Prenatal diagnosis of genetic disease in Canada: report of a collaborative study. Can Med Assoc J (1976) 2.07
Chorionic villus sampling and amniocentesis for prenatal diagnosis. Lancet (1997) 2.04
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res (2000) 1.83
Robertsonian translocations in man: evidence for prezygotic selection. Cytogenetics (1968) 1.82
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet (1997) 1.82
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet (1999) 1.72
Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation. Blood (1990) 1.68
Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet (1974) 1.57
Prostaglandin and thromboxane synthesis in a pure macrophage population and the inhibition, by E-type prostaglandins, of chemiluminescence. FEBS Lett (1978) 1.55
Comparison of iodine-123-epidepride and iodine-123-IBZM for dopamine D2 receptor imaging. J Nucl Med (1996) 1.48
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
Regional localization of 18 human X-linked DNA sequences. Cytogenet Cell Genet (1986) 1.48
Localization of the gene encoding human factor V to chromosome 1q21-25. Genomics (1988) 1.46
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr (2001) 1.42
Chromosome studies in a neonatal population. Can Med Assoc J (1972) 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
Molecular characterization of the marker chromosome associated with cat eye syndrome. Am J Hum Genet (1994) 1.39
The characteristics of a population of Canadian women offered maternal serum alphafetoprotein screening during pregnancy. Can J Public Health (1986) 1.39
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr (1991) 1.37
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
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
Chromosomal mosaicism in diagnostic amniotic fluid cell cultures. Pediatr Res (1974) 1.34
Isolation and characterization of an alpha-satellite repeated sequence from human chromosome 22. Chromosoma (1986) 1.33
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
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology (2000) 1.25
Chromosomal assignment of human sequences encoding arginine vasopressin-neurophysin II and growth hormone releasing factor. Somat Cell Mol Genet (1985) 1.24
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord (2000) 1.22
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet (1996) 1.20
Report of the committee on the genetic constitution of chromosome 1. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. Cytogenet Cell Genet (1982) 1.16
Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR. Am J Med Genet (1990) 1.16
Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval. Am J Hum Genet (1994) 1.14
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am J Hum Genet (2000) 1.12
A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet (1978) 1.11
Genetic intersexuality in goats. J Reprod Fertil Suppl (1969) 1.10
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families. Hum Genet (1985) 1.09
A DNA marker for human chromosome 8 that detects alleles of differing sizes. Cytogenet Cell Genet (1986) 1.08
Human population cytogenetics: dilemmas and problems. Am J Hum Genet (1976) 1.07
Infantile hypophosphatasia--linkage with the RH locus. Genomics (1987) 1.07
LC-MS/MS progress in newborn screening. Clin Biochem (2010) 1.04
Three years' experience with neonatal screening for Duchenne/Becker muscular dystrophy: gene analysis, gene expression, and phenotype prediction. Am J Med Genet (1991) 1.03
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet (2001) 1.02
Chemiluminescence and immune cell activation. I. Early activation of rat thymocytes can be monitored by chemiluminescence measurements. Eur J Immunol (1978) 1.02
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians. Am J Med Genet (1995) 1.01
Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27. Hum Genet (1987) 1.00
Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3. Am J Hum Genet (1986) 0.98
Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening. Lancet (1988) 0.97
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet (1998) 0.96
A summary of the human gene map, 1973-1977. Cytogenet Cell Genet (1978) 0.96
Report of the committee on the genetic constitution of chromosome 1. Cytogenet Cell Genet (1979) 0.96
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. J Neuropathol Exp Neurol (1997) 0.95
New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. Am J Med Genet (1992) 0.95
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. J Inherit Metab Dis (1997) 0.95
A 48, XXXX female. J Med Genet (1974) 0.94
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
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program. Mol Genet Metab (2001) 0.94
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 0.93
Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Final report. Prenat Diagn (1992) 0.93
Chromosome findings in chronic psychotic patients. Br J Psychiatry (1968) 0.93
Significance of sex chromosome derived heterochromatin in mammals. Nature (1968) 0.92
Chemiluminescence and immune cell activation. II. Enhancement of concanavalin A-induced chemiluminescence following in vitro preincubation of rat thymocytes; dependency on macrophage-lymphocyte interaction. Eur J Immunol (1980) 0.92
Proceedings: Report of the Committee on the Genetic Constitution of Chromosome 1. Cytogenet Cell Genet (1974) 0.92
Report of the committee on the genetic constitution of chromosomes 1 and 2. Birth Defects Orig Artic Ser (1976) 0.91
Non-random X chromosome expression in female mules and hinnies. Nature (1971) 0.91
Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids. Am J Hum Genet (1975) 0.91
Non-random inactivation of the X chromosome in the female mule. Nature (1970) 0.91
Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features. Clin Genet (2002) 0.90
Emergency treatment in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 0.90
Cytogenetic disorders. N Engl J Med (1984) 0.89
A calcium-associated magnesium-responsive defect of respiration and oxidative phosphorylation by skeletal muscle mitochondria of BIO 14.6 dystrophic hamsters. Life Sci II (1970) 0.89
Agenesis of the penis: patterns of associated malformations. Am J Med Genet (1999) 0.88
The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. Hum Mol Genet (1994) 0.88
The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene. Mol Cell Endocrinol (1991) 0.88
A comprehensive analysis of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in familial nonmedullary thyroid cancer: confirmation of linkage to TCO1. J Clin Endocrinol Metab (2001) 0.88