Published in Am J Hum Genet on January 01, 1984
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Linkage analysis of human leukocyte antigen (HLA) markers in familial psoriasis: strong disequilibrium effects provide evidence for a major determinant in the HLA-B/-C region. Am J Hum Genet (1998) 2.09
Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Am J Hum Genet (1993) 1.83
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Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
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Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet (1989) 4.13
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Basic fallacies in the formulation of the paternity index. Am J Hum Genet (1985) 3.18
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Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77
A simple method of estimating the segregation ratio under complete ascertainment. Am J Hum Genet (1968) 2.62
Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proc Natl Acad Sci U S A (1984) 2.47
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Identification of inbred mouse strains harboring genetic modifiers of mammary tumor age of onset and metastatic progression. Int J Cancer (1998) 2.36
Clinical and epidemiologic studies of cleft lip and palate in the Philippines. Cleft Palate Craniofac J (1997) 2.33
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Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science (1987) 2.27
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24
The CEPH consortium linkage map of human chromosome 1. Genomics (1991) 2.09
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet (1993) 2.05
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
Complex segregation analysis of nonsyndromic cleft lip and palate. Am J Hum Genet (1991) 2.01
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Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet (1989) 1.82
Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene. Am J Hum Genet (1989) 1.81
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Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet (1996) 1.77
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A (2000) 1.76
Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet (1993) 1.71
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Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. Am J Hum Genet (2000) 1.69
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Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects. Am J Hum Genet (2000) 1.65
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet (1996) 1.65
Multipoint gene mapping using seriation. I. General methods. Am J Hum Genet (1987) 1.61
Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet (1994) 1.60
Rapid RFLP screening procedure identifies new polymorphisms at albumin and alcohol dehydrogenase loci. Hum Genet (1987) 1.58
Microsatellite polymorphism linkage map of human chromosome 13q. Genomics (1993) 1.56
Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone. Am J Hum Genet (1978) 1.55
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res (1999) 1.53
P1 and cosmid clones define the organization of 280 kb of the mouse H-2 complex containing the Cps-1 and Hsp70 loci. Immunogenetics (1994) 1.52
Help of the fire brigade in a case of a strangulated penis. Ann R Coll Surg Engl (2001) 1.51
A genetic linkage map of 17 markers on human chromosome 21. Genomics (1989) 1.50
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. Am J Hum Genet (1990) 1.48
The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice. Genesis (2001) 1.44
Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27. Am J Hum Genet (1987) 1.43
A genetic linkage map of 27 markers on human chromosome 21. Genomics (1991) 1.43
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet (1995) 1.43
Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics (1990) 1.43
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet (1992) 1.41
A genetical model for vitiligo. Am J Hum Genet (1988) 1.41
Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res (2000) 1.40
Cutaneous malignant melanoma and familial dysplastic nevi: evidence for autosomal dominance and pleiotropy. Am J Hum Genet (1986) 1.39
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). Genomics (1991) 1.37
Altered cellular but not humoral reactions in children with complicated enterovirus 71 infections in Taiwan. J Infect Dis (2001) 1.36
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Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3. Am J Hum Genet (1996) 1.32
DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. Hum Genet (1988) 1.32
Report of the committee on the genetic constitution of chromosome 4. Cytogenet Cell Genet (1989) 1.31
Drift variances of FST and GST statistics obtained from a finite number of isolated populations. Theor Popul Biol (1977) 1.31
Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines. Cleft Palate Craniofac J (1997) 1.30
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet (1996) 1.27
Genetic Considerations in Familial Hemorrhagic Disease. I. The Sex-Linked Recessive Disorders, Hemophilia and PTC Deficiency. Am J Hum Genet (1963) 1.27
Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). Am J Hum Genet (1993) 1.27
Identification of the human papillomavirus type 6b L1 open reading frame protein in condylomas and corresponding antibodies in human sera. J Virol (1987) 1.26
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics (1993) 1.26
A single-gene explanation for the probability of having idiopathic talipes equinovarus. Am J Hum Genet (1993) 1.26
Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin. Am J Hum Genet (1990) 1.26
Guidelines for human linkage maps. An International System for Human Linkage Maps (ISLM, 1990). Ann Hum Genet (1991) 1.25
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet (1999) 1.25