Published in Am J Hum Genet on February 01, 1988
Clustering of multiallele DNA markers near the Huntington's disease gene. J Clin Invest (1989) 2.25
Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Res (1990) 2.23
Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. J Med Genet (1989) 2.05
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet (1989) 1.95
Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet (1991) 1.84
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet (1991) 1.67
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet (1989) 1.64
Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Res (1988) 1.51
A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients. Proc Natl Acad Sci U S A (1990) 1.47
A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am J Hum Genet (1991) 1.46
The end in sight for Huntington disease? Am J Hum Genet (1991) 1.45
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. Am J Hum Genet (1990) 1.41
Loss of heterozygosity suggests tumor suppressor gene responsible for primary hepatocellular carcinoma. Proc Natl Acad Sci U S A (1989) 1.34
Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea. J Med Genet (1988) 1.33
Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene. Nucleic Acids Res (1988) 1.24
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. Proc Natl Acad Sci U S A (1988) 1.20
Defined physical limits of the Huntington disease gene candidate region. Am J Hum Genet (1991) 1.13
Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population. Am J Hum Genet (1992) 1.03
Linkage disequilibrium and modification of risk for Huntington disease. Am J Hum Genet (1991) 1.00
The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere. Proc Natl Acad Sci U S A (1989) 0.99
Covariate-dependent age-at-onset distributions for Huntington disease. Am J Hum Genet (1991) 0.93
Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region. Am J Hum Genet (1989) 0.91
Recombination of 4p16 DNA markers in an unusual family with Huntington disease. Am J Hum Genet (1992) 0.84
DNA analysis of Huntington's disease in southern Chinese. J Med Genet (1995) 0.79
Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region. Am J Hum Genet (1992) 0.75
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem (1983) 206.01
A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature (1986) 13.96
Removal of repeated sequences from hybridisation probes. Nucleic Acids Res (1985) 9.79
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature (1987) 7.88
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (1986) 6.45
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature (1986) 6.34
Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell (1987) 3.11
Homozygotes for Huntington's disease. Nature (1987) 2.40
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19
Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization. Am J Hum Genet (1986) 1.98
Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5. Mol Cell Biol (1982) 1.97
A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene. Am J Hum Genet (1986) 1.61
Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J Hum Genet (1986) 1.59
Genetic counterselective procedure to isolate interspecific cell hybrids containing single human chromosomes: construction of cell hybrids and recombinant DNA libraries specific for human chromosomes 3 and 4. Somat Cell Mol Genet (1986) 1.59
A fine structure physical map of the short arm of chromosome 5. Am J Hum Genet (1986) 1.35
Fine mapping of the Huntington disease linked D4S10 locus by non-radioactive in situ hybridization. Hum Genet (1986) 1.30
Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3. Am J Hum Genet (1986) 0.98
Assignment of the gene for phosphoribosylpyrophosphate amidotransferase to the pter leads to q21 region of human chromosome 4. Cytogenet Cell Genet (1978) 0.87
Linkage group I: the simultaneous estimation of recombination and interference. Birth Defects Orig Artic Ser (1976) 8.63
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Evidence for positive selection in the superoxide dismutase (Sod) region of Drosophila melanogaster. Genetics (1994) 5.05
A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90
Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci U S A (1994) 3.61
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet (1989) 3.22
Amphetamine, 3,4-methylenedioxymethamphetamine, lysergic acid diethylamide, and metabolites of the catecholamine neurotransmitters are agonists of a rat trace amine receptor. Mol Pharmacol (2001) 3.11
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet (1995) 2.93
Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 2.83
Identification of 28 DNA fragments that detect RFLPs in 13 distinct physical regions of the short arm of chromosome 5. Nucleic Acids Res (1987) 2.72
Molecular approach to analyzing the human 5p deletion syndrome, cri du chat. Somat Cell Mol Genet (1985) 2.56
Chromosomal localization of the human proenkephalin and prodynorphin genes. Am J Hum Genet (1988) 2.39
Genetic characterization of six parasitic protozoa: parity between random-primer DNA typing and multilocus enzyme electrophoresis. Proc Natl Acad Sci U S A (1993) 2.36
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet (1993) 2.35
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet (1995) 2.34
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet (1991) 2.26
The human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP. Am J Hum Genet (1989) 2.25
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet (1991) 2.23
Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Res (1990) 2.23
Seven polymorphic loci mapping to human chromosomal region 11q22-qter. Genomics (1988) 2.23
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet (1995) 2.17
Renal pelvic carcinoma in a Swedish district with abuse of a phenacetin-containing drug. Br J Urol (1969) 2.09
Food-related gastrointestinal symptoms in the irritable bowel syndrome. Digestion (2001) 2.05
Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. J Med Genet (1989) 2.05
Human chromosome 12 is required for elevated HIV-1 expression in human-hamster hybrid cells. Science (1989) 2.03
Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization. Am J Hum Genet (1986) 1.98
Transitional cell tumors of the renal pelvis in analgesic abusers. Scand J Urol Nephrol (1968) 1.97
Genetic demonstration of mitotic recombination in cultured Chinese hamster cell hybrids. Cell (1984) 1.97
Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5. Mol Cell Biol (1982) 1.97
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet (1989) 1.95
Heritable fragile site on chromosome 16: probable localization of haptoglobin locus in man. Science (1970) 1.87
Expression and chromosomal localization of a lymphocyte K+ channel gene. Proc Natl Acad Sci U S A (1990) 1.85
Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival. J Pediatr (1968) 1.84
Simplified technique with short and long-term followup of conversion of an ileal conduit to an Indiana pouch. J Urol (2000) 1.84
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet (1990) 1.83
Linkage of the leuS, emtB, and chr genes on chromosome 5 in humans and expression of human genes encoding protein synthetic components in human--Chinese hamster hybrids. Somatic Cell Genet (1982) 1.82
Standardization of food challenges in patients with immediate reactions to foods--position paper from the European Academy of Allergology and Clinical Immunology. Allergy (2004) 1.81
The Ras GTPase-activating-protein-related human protein IQGAP2 harbors a potential actin binding domain and interacts with calmodulin and Rho family GTPases. Mol Cell Biol (1996) 1.77
Mapping of human chromosome 5 microsatellite DNA polymorphisms. Genomics (1991) 1.74
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med (1984) 1.70
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet (1991) 1.67
The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res (1994) 1.63
A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene. Am J Hum Genet (1986) 1.61
Deletion mapping of human chromosome 5 using chromosome-specific DNA probes. Am J Hum Genet (1985) 1.60
Genetic counterselective procedure to isolate interspecific cell hybrids containing single human chromosomes: construction of cell hybrids and recombinant DNA libraries specific for human chromosomes 3 and 4. Somat Cell Mol Genet (1986) 1.59
Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J Hum Genet (1986) 1.59
A human D1 dopamine receptor gene is located on chromosome 5 at q35.1 and identifies an EcoRI RFLP. Am J Hum Genet (1990) 1.54
Chromosome abnormalities of eighty-one pediatric germ cell tumors: sex-, age-, site-, and histopathology-related differences--a Children's Cancer Group study. Genes Chromosomes Cancer (1999) 1.53
Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. Am J Med Genet (1994) 1.49
Parental origin of the extra chromosome in Down's syndrome. Hum Genet (1977) 1.47
A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am J Hum Genet (1991) 1.46
Double-blind placebo-controlled challenges for peanut allergy the efficiency of blinding procedures and the allergenic activity of peanut availability in the recipes. Allergy (2005) 1.43
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nat Genet (1994) 1.41
Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II. Hum Genet (1987) 1.40
A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. Am J Hum Genet (1988) 1.39
Analgesic nephropathy. Nephrol Dial Transplant (1996) 1.38
A hypervariable RFLP on chromosome 17p13 is defined by an arbitrary single copy probe p144-D6 [HGM9 No. D17S34]. Nucleic Acids Res (1987) 1.37
Parental origin of de novo chromosome rearrangements. Hum Genet (1980) 1.36
Phylogeny of Drosophila and related genera inferred from the nucleotide sequence of the Cu,Zn Sod gene. J Mol Evol (1994) 1.35
A fine structure physical map of the short arm of chromosome 5. Am J Hum Genet (1986) 1.35
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet (1999) 1.35
Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5. Am J Hum Genet (1989) 1.34
Effect of isoleucine, valine, or leucine starvation on the potential for formation of the branched-chain amino acid biosynthetic enzymes. J Bacteriol (1973) 1.33
Tandem duplication of proximal 22q: a cause of cat-eye syndrome. Am J Med Genet (1985) 1.33
Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16. Cytogenet Cell Genet (1989) 1.31
Uroepithelial tumors of the renal pelvis associated with abuse of phenacetin-containing analgesics. Cancer (1974) 1.29
Partial trisomy 15. Lancet (1972) 1.29
Identification of galactose-α-1,3-galactose in the gastrointestinal tract of the tick Ixodes ricinus; possible relationship with red meat allergy. Allergy (2013) 1.29
Mutational analysis of familial and sporadic hyperekplexia. Ann Neurol (1995) 1.28
Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet (1995) 1.28
Structure and sequence of the Cu,Zn Sod gene in the Mediterranean fruit fly, Ceratitis capitata: intron insertion/deletion and evolution of the gene. Mol Phylogenet Evol (1992) 1.26
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. Am J Hum Genet (1995) 1.25
Reduced penetrance of the Huntington's disease mutation. Hum Mol Genet (1997) 1.25
Biochemical and genetic evidence for a new class of emetine-resistant Chinese hamster cells with alterations in the protein biosynthetic machinery. Somatic Cell Genet (1980) 1.25
Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene. Nucleic Acids Res (1988) 1.24
Efficient procedure for transferring specific human genes into Chinese hamster cell mutants: interspecific transfer of the human genes encoding leucyl- and asparaginyl-tRNA synthetases. Mol Cell Biol (1983) 1.23
Role for free isoleucine of glycyl-leucine in the repression of threonine deaminase in Escherichia coli. J Bacteriol (1974) 1.22
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet (1998) 1.21
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. Proc Natl Acad Sci U S A (1988) 1.20
Translocation(X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype. Hum Genet (1982) 1.19
Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res (1987) 1.18
DNA cross-linker-induced G2/M arrest in group C Fanconi anemia lymphoblasts reflects normal checkpoint function. Blood (1998) 1.16
Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet (1994) 1.16
The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells. J Biol Chem (1992) 1.15
Turner syndrome resulting from partial deletion of Y chromosome short arm: localization of male determinants. J Pediatr (1984) 1.15
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet (1995) 1.15
A hypervariable repeated sequence on human chromosome 1p36. Hum Genet (1987) 1.15
Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5. Genomics (1992) 1.15
Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21. Genomics (1993) 1.14
Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies. Clin Genet (1976) 1.14
Malignancies of the urinary tract and their relation to analgesic abuse. Kidney Int (1978) 1.14
Defined physical limits of the Huntington disease gene candidate region. Am J Hum Genet (1991) 1.13
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The Interregional Cytogenetic Register System (ICRS). Birth Defects Orig Artic Ser (1978) 1.13