Published in Hum Mol Genet on November 01, 1993
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A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet (1992) 1.73
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A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Hum Mol Genet (2001) 1.44
Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet (1992) 1.41
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. Am J Hum Genet (1990) 1.41
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DMBT1 encodes a protein involved in the immune defense and in epithelial differentiation and is highly unstable in cancer. Cancer Res (2000) 1.32
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Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene. Nucleic Acids Res (1988) 1.24
A large database of chicken bursal ESTs as a resource for the analysis of vertebrate gene function. Genome Res (2000) 1.24
Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions. Mamm Genome (2000) 1.23
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. Mol Psychiatry (2006) 1.23
Transketolase-like 1 expression correlates with subtypes of ovarian cancer and the presence of distant metastases. Int J Gynecol Cancer (2007) 1.22
Serotonin transporter (5-HTT) gene variants associated with autism? Hum Mol Genet (1997) 1.21
Genomic organization of the adrenoleukodystrophy gene. Genomics (1994) 1.19
Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Hum Genet (1988) 1.18
Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. Hum Mol Genet (1999) 1.18
Multiple origins for phenylketonuria in Europe. Am J Hum Genet (1992) 1.17
A family of cosmid vectors with the multi-copy R6K replication origin. Gene (1987) 1.16
Alternative splicing in the fragile X gene FMR1. Hum Mol Genet (1993) 1.16
The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28. Genomics (1995) 1.16
Comprehensive allelotype and genetic anaysis of 466 human nervous system tumors. J Neuropathol Exp Neurol (2000) 1.15
Comparative genome sequence analysis of the Bpa/Str region in mouse and Man. Genome Res (2000) 1.13
A human homologue of the Drosophila tumour suppressor gene l(2)gl maps to 17p11.2-12 and codes for a cytoskeletal protein that associates with nonmuscle myosin II heavy chain. Oncogene (1995) 1.13
Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q). Genes Chromosomes Cancer (1999) 1.10
Pbx4, a new Pbx family member on mouse chromosome 8, is expressed during spermatogenesis. Mech Dev (2001) 1.09
The human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcripts. J Biol Chem (1998) 1.09
Molecular cloning and analysis of the fragile X region in man. Nucleic Acids Res (1991) 1.08
Normalization of array hybridization experiments in differential gene expression analysis. Nucleic Acids Res (1999) 1.08
New genes in the class II region of the human major histocompatibility complex. Genomics (1991) 1.05
A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor. Genomics (1997) 1.05
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families. Hum Genet (1988) 1.05
Discrimination of direct and indirect interactions in a network of regulatory effects. J Comput Biol (2007) 1.05
Analysis of reelin as a candidate gene for autism. Mol Psychiatry (2003) 1.05
Prognostic impacts of cytogenetic findings in clear cell renal cell carcinoma: gain of 5q31-qter predicts a distinct clinical phenotype with favorable prognosis. Cancer Res (2001) 1.04