Published in Genomics on January 01, 1994
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet (1997) 3.95
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet (1998) 1.87
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet (2008) 1.64
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Res (1998) 1.17
Consequences of the evolution of the GABA(A) receptor gene family. Cell Mol Neurobiol (2005) 0.96
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Am J Hum Genet (1997) 0.92
Molecular screening for proximal 15q abnormalities in a mentally retarded population. J Med Genet (1998) 0.76
Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies. Int J Mol Med (2017) 0.75
Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype. Mol Cytogenet (2015) 0.75
A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet (1984) 7.73
UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet (1997) 5.97
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature (1989) 4.72
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc Natl Acad Sci U S A (2000) 4.54
Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad Sci U S A (1986) 3.54
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
Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. Cancer Genet Cytogenet (1984) 3.17
Pharmacogenomics and metabolite measurement for 6-mercaptopurine therapy in inflammatory bowel disease. Gastroenterology (2000) 2.99
Risk of childhood leukemia associated with exposure to pesticides and with gene polymorphisms. Epidemiology (1999) 2.85
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet (1997) 2.77
Homologous association of oppositely imprinted chromosomal domains. Science (1996) 2.54
RAB22 and RAB163/mouse BRCA2: proteins that specifically interact with the RAD51 protein. Proc Natl Acad Sci U S A (1997) 2.23
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet (1998) 2.16
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet (1997) 1.88
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet (1990) 1.83
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet (1994) 1.79
Reverse transcriptase activity from human embryonal carcinoma cells NTera2D1. EMBO J (1990) 1.68
Inhibition of the G1-S transition of the cell cycle by inhibitors of deoxyhypusine hydroxylation. Biochim Biophys Acta (1994) 1.62
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet (1992) 1.57
The gene for incontinentia pigmenti is assigned to Xq28. Genomics (1989) 1.52
Molecular detection and differentiation of deletions in band 13q14 in human retinoblastoma. Cancer Genet Cytogenet (1986) 1.47
Susceptibility to childhood acute lymphoblastic leukemia: influence of CYP1A1, CYP2D6, GSTM1, and GSTT1 genetic polymorphisms. Blood (1999) 1.45
Prostate cancer susceptibility genes: lessons learned and challenges posed. Endocr Relat Cancer (2003) 1.44
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Lancet (1992) 1.37
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Hum Mol Genet (1999) 1.35
Genetic characterisation of Toxoplasma gondii in wildlife from North America revealed widespread and high prevalence of the fourth clonal type. Int J Parasitol (2011) 1.30
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Am J Hum Genet (1991) 1.30
Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female. Nucleic Acids Res (1986) 1.26
Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. Nat Genet (1994) 1.26
Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nat Genet (1992) 1.25
FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet (1993) 1.22
A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. Nature (1993) 1.19
Construction of a chromosome 16-enriched phage library and characterization of several DNA segments from 16p. Hum Genet (1987) 1.18
Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region. Hum Mol Genet (1995) 1.17
Evolution of mouse B1 repeats: 7SL RNA folding pattern conserved. J Mol Evol (1991) 1.16
High intensity focused ultrasound--a surgical technique for the treatment of discrete liver tumours. Phys Med Biol (1989) 1.15
Risk of childhood leukemia associated with diagnostic irradiation and polymorphisms in DNA repair genes. Environ Health Perspect (2000) 1.13
Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. Hum Mol Genet (1993) 1.11
High resolution analysis of the timing of replication of specific DNA sequences during S phase of mammalian cells. Nucleic Acids Res (1983) 1.11
Expression of glypican 3 (GPC3) in embryonal tumors. Int J Cancer (2000) 1.10
Use of gamma irradiation to eliminate DNA contamination for PCR. Nucleic Acids Res (1990) 1.09
Isolation of DNA sequences on human chromosome 21 by application of a recombination-based assay to DNA from flow-sorted chromosomes. Hum Genet (1988) 1.08
Mimosine reversibly arrests cell cycle progression at the G1-S phase border. Cytometry (1991) 1.07
Linkage analysis in familial Angelman syndrome. Am J Hum Genet (1993) 1.07
The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics (1991) 1.06
Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14. Genomics (1998) 1.06
Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosomes and mosaicism. Hum Genet (1987) 1.06
Antibiotic prophylaxis for post-operative wound infection in clean elective breast surgery. Eur J Surg Oncol (2000) 1.05
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum Mol Genet (1993) 1.05
A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum Mol Genet (1998) 1.04
A new class of reversible cell cycle inhibitors. Cytometry (1991) 1.04
High resolution deletion mapping reveals frequent allelic losses at the DNA mismatch repair loci hMLH1 and hMSH3 in non-small cell lung cancer. Int J Cancer (1998) 1.03
Identification and characterization of three members of a novel subclass of protocadherins. Genomics (2001) 1.02
DNA methylation of retinoic acid receptor beta in breast cancer and possible therapeutic role of 5-aza-2'-deoxycytidine. Anticancer Drugs (1999) 1.01
Allelic loss in childhood acute lymphoblastic leukemia. Leuk Res (1997) 1.01
Monophyletic origin of Alu elements in primates. J Mol Evol (1998) 1.00
On the parental origin of the deletion in Angelman syndrome. Hum Genet (1989) 1.00
Demethylation by 5-aza-2'-deoxycytidine of specific 5-methylcytosine sites in the promoter region of the retinoic acid receptor beta gene in human colon carcinoma cells. Anticancer Drugs (1998) 1.00
Mutational and expression analysis of the chromosome 12p candidate tumor suppressor genes in pre-B acute lymphoblastic leukemia. Leukemia (2004) 1.00
A physical map of the human Y-chromosome short arm. Genomics (1990) 1.00
Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13. Hum Mol Genet (1992) 1.00
Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus. Mol Cell Biol (1989) 1.00
Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution. Nat Genet (1995) 0.99
Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11. Hum Genet (1988) 0.99
Linkage mapping by simultaneous screening of multiple polymorphic loci using Alu oligonucleotide-directed PCR. Proc Natl Acad Sci U S A (1992) 0.99
Genetic susceptibility to breast cancer in French-Canadians: role of carcinogen-metabolizing enzymes and gene-environment interactions. Int J Cancer (2001) 0.99
Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. Gene (1985) 0.97
Rapid detection of CYP1A1, CYP2D6, and NAT variants by multiplex polymerase chain reaction and allele-specific oligonucleotide assay. Anal Biochem (1999) 0.97
The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7. Genomics (1991) 0.96
Quantitative analysis of the three regimes of DNA electrophoresis in agarose gels. Biopolymers (1988) 0.96
High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Am J Hum Genet (1993) 0.96
Plasma levels of dantrolene following oral administration in malignant hyperthermia-susceptible patients. Anesthesiology (1988) 0.96
Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res (1986) 0.96
Preconceptional paternal exposure to pesticides and increased risk of childhood leukaemia. Lancet (1999) 0.96
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. Eur J Hum Genet (1999) 0.95
Colorectal breast metastases presenting with atypical imaging features. Br J Radiol (2008) 0.93
Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview. Am J Med Genet (1993) 0.93
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Am J Hum Genet (1997) 0.92
Resolution of Schizosaccharomyces pombe chromosomes by field inversion gel electrophoresis. Nucleic Acids Res (1988) 0.92
An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA. Hum Mol Genet (1999) 0.91
The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Br J Cancer (2009) 0.90
Parental smoking, CYP1A1 genetic polymorphisms and childhood leukemia (Québec, Canada). Cancer Causes Control (2000) 0.90
High-resolution analysis of DNA replication domain organization across an R/G-band boundary. Mol Cell Biol (1997) 0.90
Expression of 2 variant forms of fibroblast growth factor receptor 1 in human breast. Int J Cancer (1995) 0.90
Identification of inverted duplicated #15 chromosomes using bivariate flow cytometric analysis. Cytometry (1985) 0.90
Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer. Br J Cancer (1999) 0.90
The human T cell receptor alpha-delta locus: a physical map of the variable, joining and constant region genes. Eur J Immunol (1988) 0.89
Insulin modulation of newly synthesized apolipoproteins B-100 and B-48 in human fetal intestine: gene expression and mRNA editing are not involved. FEBS Lett (1996) 0.88
A duplicated region is responsible for the poly(ADP-ribose) polymerase polymorphism, on chromosome 13, associated with a predisposition to cancer. Am J Hum Genet (1993) 0.88
The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am J Hum Genet (1995) 0.88
The critical region for Angelman syndrome lies between D15S122 and D15S113. Am J Med Genet (1994) 0.88
Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus. Hum Genet (1992) 0.87
Genetic polymorphisms of N-acetyltransferases 1 and 2 and gene-gene interaction in the susceptibility to childhood acute lymphoblastic leukemia. Cancer Epidemiol Biomarkers Prev (2000) 0.87
Structure and organization of GABRB3 and GABRA5. Genomics (1997) 0.87
Complications of abortion performed under local anesthesia. Eur J Obstet Gynecol Reprod Biol (1998) 0.87
Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region. Genomics (1997) 0.87