Published in Am J Med Genet on January 01, 1980
Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet (1986) 2.23
Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. Am J Hum Genet (1992) 2.12
Complex segregation analysis of nonsyndromic cleft lip and palate. Am J Hum Genet (1991) 2.01
Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives. BMJ (2008) 1.96
Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. Am J Hum Genet (1992) 1.66
Familial recurrence-pattern analysis of cleft lip with or without cleft palate. Am J Hum Genet (1992) 1.64
A three generation family study of cleft lip with or without cleft palate. J Med Genet (1982) 1.62
The evolution of human genetic studies of cleft lip and cleft palate. Annu Rev Genomics Hum Genet (2012) 1.58
Dominantly inherited cleft lip and palate in two families. J Med Genet (1989) 1.49
Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families. Am J Hum Genet (2002) 1.44
Popliteal pterygium syndrome. J Med Genet (1990) 1.43
An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives. J Med Genet (1982) 1.41
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. J Med Genet (1999) 1.28
Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A. Am J Hum Genet (1993) 1.23
Selection bias in genetic-epidemiological studies of cleft lip and palate. Am J Hum Genet (1992) 1.09
Nonsyndromic cleft lip with or without cleft palate in west Bengal, India: evidence for an autosomal major locus. Am J Hum Genet (1993) 1.00
Genetics of cleft lip and cleft palate in China. Am J Hum Genet (1982) 0.95
Clustering of malformations in the families of South American oral cleft neonates. J Med Genet (1991) 0.92
An epidemiological and genetic study of facial clefting in France. II Segregation analysis. J Med Genet (1984) 0.90
Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns. J Med Genet (1988) 0.88
Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate. Am J Hum Genet (1994) 0.87
Multifactorial inheritance in man. Can Fam Physician (1988) 0.82
Popliteal pterygium syndrome: a rare entity. APSP J Case Rep (2012) 0.75
A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71
CD44 is the principal cell surface receptor for hyaluronate. Cell (1990) 11.01
Linkage group I: the simultaneous estimation of recombination and interference. Birth Defects Orig Artic Ser (1976) 8.63
Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet (1994) 7.07
Linkage analysis in man. Adv Hum Genet (1980) 6.64
Genome-wide search for genes affecting the risk for alcohol dependence. Am J Med Genet (1998) 6.04
Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet (1985) 5.61
Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA (1997) 4.00
SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am J Hum Genet (2000) 3.58
Population genetic studies of retinitis pigmentosa. Am J Hum Genet (1980) 3.51
Alcoholism susceptibility loci: confirmation studies in a replicate sample and further mapping. Alcohol Clin Exp Res (2000) 3.42
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet (1987) 3.14
Salivary and pancreatic amylase: electrophoretic characterizations and genetic studies. Am J Hum Genet (1973) 3.12
Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell (1987) 3.11
DNA markers for nervous system diseases. Science (1984) 3.02
Huntington disease: genetics and epidemiology. Am J Hum Genet (1984) 2.81
Anticipation in Huntington's disease is inherited through the male line but may originate in the female. J Med Genet (1988) 2.37
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32
Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet (1986) 2.23
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum Genet (1986) 2.18
A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol (1973) 2.16
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet (1993) 2.07
Description of the Genetic Analysis Workshop 11 Collaborative Study on the Genetics of Alcoholism. Genet Epidemiol (1999) 2.01
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nat Genet (1999) 2.01
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci U S A (1985) 2.00
Improved outcome in Pierre Robin sequence: effect of multidisciplinary evaluation and management. Pediatrics (1990) 1.92
A genetic model for age at onset in Huntington disease. Am J Hum Genet (1985) 1.82
The natural history of Huntington disease: possible role of "aging genes". Am J Med Genet (1984) 1.79
Genetic linkage map of human chromosome 21. Genomics (1988) 1.79
Identification of novel genes in late-onset Alzheimer's disease. Exp Gerontol (2000) 1.74
Multiple pterygium syndrome. Am J Dis Child (1978) 1.71
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology (2003) 1.70
Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene. Nat Genet (1992) 1.66
The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature. Clin Genet (1972) 1.63
Differences in duration of Huntington's disease based on age at onset. J Neurol Neurosurg Psychiatry (1999) 1.63
Cleft lip and palate in Denmark, 1976-1981: epidemiology, variability, and early somatic development. Cleft Palate J (1988) 1.60
Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir Crit Care Med (1995) 1.60
The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Nature (1987) 1.57
Dermatoglyphic nomogram for the diagnosis of Down's syndrome. J Pediatr (1970) 1.56
Linkage of structure at the proximal femur to chromosomes 3, 7, 8, and 19. J Bone Miner Res (2003) 1.55
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD. Am J Hum Genet (1993) 1.55
Letter: A computer program to determine genetic risks: a simplified version of PEDIG (Heuch and Li, 1972). Am J Hum Genet (1974) 1.53
Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. Nat Genet (1997) 1.52
Genetic analysis of cleft lip with or without cleft palate in Danish kindreds. Am J Med Genet (1984) 1.48
Sibling pair linkage and association studies between bone mineral density and the insulin-like growth factor I gene locus. J Clin Endocrinol Metab (1999) 1.45
No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. Genomics (1996) 1.45
Quantitative trait loci analysis of human event-related brain potentials: P3 voltage. Electroencephalogr Clin Neurophysiol (1998) 1.43
Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. J Clin Endocrinol Metab (2000) 1.43
A DNA polymorphism for Huntington's disease marks the future. Arch Neurol (1985) 1.43
Longitudinal cognitive and motor changes among presymptomatic Huntington disease gene carriers. Arch Neurol (1999) 1.41
Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. Nat Genet (1992) 1.41
Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser (1975) 1.40
Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987). Cytogenet Cell Genet (1987) 1.40
Analysis of association at single nucleotide polymorphisms in the APOE region. Genomics (2000) 1.40
Huntington disease: estimation of heterozygote status using linked genetic markers. Genet Epidemiol (1984) 1.39
Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. J Clin Invest (1986) 1.38
Human amylase loci: genetic linkage with the Duffy blood group locus and assignment to linkage group I. Am J Hum Genet (1973) 1.38
Cleft lip with or without cleft palate in Shanghai, China: evidence for an autosomal major locus. Am J Hum Genet (1992) 1.38
Huntington's disease: two families with differing clinical features show linkage to the G8 probe. Science (1985) 1.37
Two models for a maternal factor in the inheritance of Huntington disease. Am J Hum Genet (1983) 1.37
A genetic linkage map of the long arm of human chromosome 22. Genomics (1989) 1.37
Genetic analysis in families with van der Woude syndrome. J Craniofac Genet Dev Biol (1985) 1.37
Major gene determination of liability to cleft lip with or without cleft palate: a multiracial view. J Craniofac Genet Dev Biol Suppl (1986) 1.36
Cognitive scores in carriers of Huntington's disease gene compared to noncarriers. Ann Neurol (1995) 1.36
Human salivary amylase: genetics of electrophoretic variants. Am J Hum Genet (1971) 1.33
Subtle changes among presymptomatic carriers of the Huntington's disease gene. J Neurol Neurosurg Psychiatry (2000) 1.32
Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 3, 5, 15, 16, 17, and 22. Am J Med Genet (1997) 1.30
Congenital X-linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser (1974) 1.30
Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser (1975) 1.29
Incidence of cleft lip and palate in the offspring of cleft parents. Clin Genet (1971) 1.29
Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet (1976) 1.28
Simplified method for collection of pure submandibular saliva in large volumes. J Dent Res (1968) 1.28
External ear malformations: epidemiology, genetics, and natural history. Birth Defects Orig Artic Ser (1979) 1.28
The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females. Clin Genet (1984) 1.27
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A (1986) 1.27
Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity. Am J Hum Genet (2000) 1.26
Urorectal septum malformation sequence. Report of six cases and embryological analysis. Am J Dis Child (1987) 1.26
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. J Med Genet (1985) 1.25
Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting. J Med Genet (1991) 1.25
The neurogenic genes egghead and brainiac define a novel signaling pathway essential for epithelial morphogenesis during Drosophila oogenesis. Development (1996) 1.25
Gerstmann-Sträussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. Neurology (1989) 1.22
Genetic family history questionnaire. J Med Genet (1978) 1.21
Phenotypic variation in the popliteal pterygium syndrome. Clin Genet (1973) 1.21
Age-of-onset heterogeneity in Huntington disease families. Am J Med Genet (1983) 1.21
Cleft palate: a genetic and epidemiologic investigation. Clin Genet (1981) 1.20
Confirmation of subtle motor changes among presymptomatic carriers of the Huntington disease gene. Arch Neurol (2000) 1.19
Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci U S A (1989) 1.19
Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13. J Bone Miner Res (1998) 1.18
The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. Clin Genet (1977) 1.18
Dentin dysplasia type I: a scanning electron microscopic analysis of the primary dentition. Oral Surg Oral Med Oral Pathol (1980) 1.16
Genome screen for quantitative trait loci underlying normal variation in femoral structure. J Bone Miner Res (2001) 1.16
Familial gastroesophageal reflux and development of Barrett's esophagus. Ann Intern Med (1985) 1.16
Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet (1993) 1.15