Published in Am J Med Genet on October 03, 1997
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The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet (2001) 2.28
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Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands. Am J Hum Genet (1998) 0.79
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Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet (1989) 3.74
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The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet (2001) 2.68
Threatened survival of academic-based genetic laboratory services. Am J Hum Genet (1992) 2.65
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Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA (1992) 2.11
Complex segregation analysis of nonsyndromic cleft lip and palate. Am J Hum Genet (1991) 2.01
Methotrexate-induced congenital malformations. J Pediatr (1968) 2.00
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet (2003) 2.00
Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am J Hum Genet (1991) 1.94
Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham study. Hum Mol Genet (2000) 1.94
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol (2001) 1.92
Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82
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Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet (1995) 1.67
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Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr (1990) 1.53
Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 1.52
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Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. Pharmacogenomics J (2007) 1.33
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A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology (2000) 1.29
The genomic organization of human dystrobrevin. Neurogenetics (1997) 1.29
Genetic determination of plasma apolipoprotein AI in a population-based sample. Am J Hum Genet (1989) 1.29
Distribution of sodium-lithium countertransport and blood pressure in Caucasians five to eighty-nine years of age. Hypertension (1989) 1.28
APOE epsilon4 is associated with obstructive sleep apnea/hypopnea: the Sleep Heart Health Study. Neurology (2004) 1.28
Prolonged suppression of human immunodeficiency virus type 1 (HIV-1) viremia in persons with advanced disease results in enhancement of CD4 T cell reactivity to microbial antigens but not to HIV-1 antigens. J Infect Dis (1999) 1.28
Common variants in the 5' region of the leptin gene are associated with body mass index in men from the National Heart, Lung, and Blood Institute Family Heart Study. Am J Hum Genet (2004) 1.27
Neutropenia and impaired neutrophil migration in type IB glycogen storage disease. J Pediatr (1980) 1.27
Physical mapping of a translocation breakpoint in neurofibromatosis. Science (1989) 1.27
Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics (1967) 1.25
Anti-HIV type 1 memory cytotoxic T lymphocyte responses associated with changes in CD4+ T cell numbers in progression of HIV type 1 infection. AIDS Res Hum Retroviruses (1998) 1.23
Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med (1975) 1.22
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. Hum Genet (2000) 1.20
Ferromagnetism in dilute magnetic semiconductors through defect engineering: Li-doped ZnO. Phys Rev Lett (2010) 1.19
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr (1976) 1.19
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet (1995) 1.16
Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol (1976) 1.16
Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet (1992) 1.15
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet (1999) 1.13
Familial paragangliomas of the head and neck. Arch Otolaryngol Head Neck Surg (1994) 1.12
A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun (1989) 1.11
Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. JAMA (1974) 1.10
Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen. Biochem J (1988) 1.10
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet (1995) 1.10
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet (1993) 1.09
Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. Am J Med Genet (1987) 1.09
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet (2008) 1.08
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet (1996) 1.07
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn (1990) 1.07
Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides. J Invest Dermatol (1988) 1.07
In vitro hematopoietic and endothelial cell development from cells expressing TEK receptor in murine aorta-gonad-mesonephros region. Blood (1999) 1.06
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet (1994) 1.06
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun (1978) 1.05
Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol (1984) 1.05
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet (1996) 1.04
Diabetes mellitus in Down's Syndrome. Arch Environ Health (1968) 1.04
Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03
Familial aggregation of idiopathic dilated cardiomyopathy. Am J Cardiol (1985) 1.03
A clefting syndrome with ocular anterior chamber defect and lid anomalies. J Pediatr (1978) 1.03
Childhood-onset schizophrenia associated with parkinsonism in a patient with a microdeletion of chromosome 22. Mayo Clin Proc (1998) 1.02
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet (1996) 1.02
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
A microassay for argininosuccinase in cultured cells. Am J Hum Genet (1972) 1.02
Heritable connective tissue disorders in cervical artery dissections: a prospective study. Neurology (1998) 1.01
Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study. Mov Disord (2005) 1.01
Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA. Hum Mutat (1992) 1.01
Chromosome translocations in couples with multiple spontaneous abortions. Am J Hum Genet (1982) 1.01
First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00
Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin. Genet Med (2001) 1.00
Autosomal dominant supravalvular aortic stenosis: large three-generation family. Am J Med Genet (1989) 0.99
Effects of adoptive immunotherapy with autologous CD8+ T lymphocytes on immunologic parameters: lymphocyte subsets and cytotoxic activity. Clin Immunol Immunopathol (1993) 0.98
Amniocentesis for prenatal genetic studies. Obstet Gynecol (1972) 0.98
Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat (1994) 0.98
Deficiency of chromosome 8p21.1----8pter: case report and review of the literature. Am J Med Genet (1985) 0.98
Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet (1998) 0.98
Arginase deficiency in multiple tissues in argininemia. Clin Genet (1978) 0.98