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Chromosome Y microsatellites: population genetic and evolutionary aspects. Int J Legal Med (1997) 1.89

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L-29, an endogenous lectin, binds to glycoconjugate ligands with positive cooperativity. Biochemistry (1993) 1.47

p53 mutations, benzo[a]pyrene and lung cancer. Mutagenesis (1998) 1.47

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DNA-fingerprinting: a short note on mutation rates. Hum Genet (1991) 1.44

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A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males. Forensic Sci Int (2000) 1.35

The molecular genetics of growth hormone deficiency. Hum Genet (1998) 1.33

Genetic association studies of bronchial asthma--a need for Bonferroni correction? Hum Genet (2000) 1.31

Genetic risk and recombination fraction--an example of non-monotonic dependency. Hum Genet (1987) 1.30

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet (1998) 1.29

DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Int J Legal Med (2001) 1.28

Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis. Hum Genet (1987) 1.28

Restriction fragment length polymorphisms at the human parathyroid hormone gene locus. Hum Genet (1984) 1.27

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res (1991) 1.26

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet (2005) 1.26

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet (2010) 1.23

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Human gene cloning and disease analysis. Lancet (1987) 1.22

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D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology (2003) 1.20

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Hum Genet (1991) 1.16

A search for restriction fragment length polymorphism on the human Y chromosome. Hum Genet (1989) 1.16

Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost (1997) 1.15

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet (2003) 1.15

Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence. Hum Genet (2001) 1.15

Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection. Hum Mutat (1995) 1.12

Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q. Hum Mol Genet (2000) 1.11

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. Mol Psychiatry (2012) 1.09

Expression of the 67-kD laminin receptor, galectin-1, and galectin-3 in advanced human uterine adenocarcinoma. Hum Pathol (1996) 1.08

The effect of replication errors on the mismatch analysis of PCR-amplified DNA. Nucleic Acids Res (1990) 1.08

Revealing the human mutome. Clin Genet (2010) 1.08

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene. Hum Genet (2001) 1.07

Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques. Hum Genet (2001) 1.06

Application of the polymerase chain reaction to the diagnosis of human genetic disease. Hum Genet (1990) 1.06

Pharmacogenetic investigation of the TNF/TNF-receptor system in patients with chronic active Crohn's disease treated with infliximab. Pharmacogenomics J (2002) 1.05

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. Hum Genet (1990) 1.04

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Flow of cerebral interstitial fluid as indicated by the removal of extracellular markers from rat caudate nucleus. Exp Eye Res (1977) 1.04

The alpha7beta1 integrin mediates adhesion and migration of skeletal myoblasts on laminin. Exp Cell Res (1997) 1.04

Molecular genetic evidence for the human settlement of the Pacific: analysis of mitochondrial DNA, Y chromosome and HLA markers. Philos Trans R Soc Lond B Biol Sci (1999) 1.04

Selective modulation of the interaction of alpha 7 beta 1 integrin with fibronectin and laminin by L-14 lectin during skeletal muscle differentiation. J Cell Sci (1994) 1.03

A list of cloned human DNA sequences. Hum Genet (1983) 1.02

Paternity assessment in rhesus macaques (Macaca mulatta): multilocus DNA fingerprinting and PCR marker typing. Am J Primatol (1998) 1.02

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? J Med Genet (2008) 1.01

Discoidin I and discoidin II are localized differently in developing Dictyostelium discoideum. J Cell Biol (1983) 1.00

Natal dispersal in rhesus macaques is related to serotonin transporter gene promoter variation. Behav Genet (2000) 1.00

Linkage relationship between retinoschisis and four marker loci. Hum Genet (1988) 1.00

Common familial influences on clustering of metabolic syndrome traits with central obesity and insulin resistance: the Kiel obesity prevention study. Int J Obes (Lond) (2006) 1.00

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