Published in Genomics on June 01, 1993
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Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. Am J Hum Genet (1995) 1.48
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
A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet (1994) 1.31
Normal phenotype with paternal uniparental isodisomy for chromosome 21. Am J Hum Genet (1993) 1.15
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis. Am J Hum Genet (1994) 1.09
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Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science (1987) 2.27
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Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
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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
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Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet (2000) 1.76
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Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes. Am J Med Genet (1995) 1.74
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet (1993) 1.73
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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
Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III. Am J Hum Genet (2000) 1.68
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Thrombosis as a complication of extended stay at high altitude. Natl Med J India (2001) 1.65
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
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. J Clin Endocrinol Metab (1998) 1.63
Cold adaptation and the seasonal distribution of acute myocardial infarction. QJM (1999) 1.62
A prospective outcome study of patients with clot in an ulcer and the effect of irrigation. Gastrointest Endosc (1996) 1.62
Non-disjunction of chromosome 18. Hum Mol Genet (1998) 1.62
Mitochondrial deafness. Clin Genet (2007) 1.61
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
Donor-transmitted malignancies in organ transplantation: assessment of clinical risk. Am J Transplant (2011) 1.59
Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet (1997) 1.57
Microsatellite polymorphism linkage map of human chromosome 13q. Genomics (1993) 1.56
Study of the mass and spin-parity of the Higgs boson candidate via its decays to Z boson pairs. Phys Rev Lett (2013) 1.56
Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone. Am J Hum Genet (1978) 1.55
A novel mode of carbohydrate recognition in jacalin, a Moraceae plant lectin with a beta-prism fold. Nat Struct Biol (1996) 1.55
A case of human thelaziasis from Himachal Pradesh. Indian J Med Microbiol (2006) 1.54
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res (1999) 1.53
Randomized comparison of ligation versus ligation plus sclerotherapy in patients with bleeding esophageal varices. Gastroenterology (1996) 1.51
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
Estimation of the marker gene frequency and linkage disequilibrium from conditional marker data. Am J Hum Genet (1984) 1.50
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am J Hum Genet (1997) 1.49
Cancer control in India- A sorry state. Indian J Cancer (2009) 1.49
Genetic mapping of the K1 and K4 antigens (L) of Escherichia coli. Non-allelism of K(L) antigens with K antigens of O8:K27(A), O8:K8(L) and O9:K57(B). Acta Pathol Microbiol Scand B (1976) 1.48
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An evaluation of four different phenotypic techniques for detection of metallo-beta-lactamase producing Pseudomonas aeruginosa. Indian J Med Microbiol (2008) 1.47
Annual review hospital visits for patients with cystic fibrosis. J R Soc Med (2001) 1.46
A comparison of three gonadotrophin-releasing hormone analogues in an in-vitro fertilization programme: a prospective randomized study. Hum Reprod (1999) 1.45
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet (1999) 1.44
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clin Genet (1999) 1.44