P Kioschis

Author PubWeight™ 42.17‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993 5.05
2 A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996 3.67
3 Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000 3.61
4 Dickkopf genes are co-ordinately expressed in mesodermal lineages. Mech Dev 1999 2.36
5 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
6 A strategy for the selection of transcribed sequences in the Xq28 region. Hum Mol Genet 1992 1.28
7 Human histone gene organization: nonregular arrangement within a large cluster. Genomics 1997 1.27
8 Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions. Mamm Genome 2000 1.23
9 Genomic organization of the adrenoleukodystrophy gene. Genomics 1994 1.19
10 Comparative genome sequence analysis of the Bpa/Str region in mouse and Man. Genome Res 2000 1.13
11 The human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcripts. J Biol Chem 1998 1.09
12 Molecular cloning and analysis of the fragile X region in man. Nucleic Acids Res 1991 1.08
13 Molecular cloning of tissue-specific transcripts of a transketolase-related gene: implications for the evolution of new vertebrate genes. Genomics 1996 1.00
14 An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome. Hum Mol Genet 1992 0.99
15 The genomic structure of the DMBT1 gene: evidence for a region with susceptibility to genomic instability. Oncogene 1999 0.99
16 Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. Hum Mol Genet 1996 0.95
17 The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. Genomics 1996 0.95
18 Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. Genomics 1997 0.91
19 Identification and characterization of a new gene in the human Xq28 region. Hum Mol Genet 1992 0.90
20 Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection. Hum Mol Genet 1993 0.90
21 X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers. Hum Genet 1996 0.89
22 A YAC clone map spanning 7.5 megabases of human chromosome band Xq28. Hum Mol Genet 1994 0.88
23 X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). J Med Genet 1994 0.86
24 Genomic structure of a novel LIM domain gene (ZNF185) in Xq28 and comparisons with the orthologous murine transcript. Genomics 1997 0.84
25 Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5). Genome Res 1996 0.84
26 Topological organization of the MYC/IGK locus in Burkitt's lymphoma cells assessed by nuclear halo preparations. Exp Cell Res 2002 0.84
27 Direct visual resolution of gene copy number in the human photopigment gene array. Invest Ophthalmol Vis Sci 1999 0.81
28 Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28. Genome Res 1996 0.81
29 Direct selection of DNA sequences conserved between species. Nucleic Acids Res 1993 0.80
30 Assignment of CASP8 to human chromosome band 2q33-->q34 and Casp8 to the murine syntenic region on chromosome 1B-proximal C by in situ hybridization. Cytogenet Cell Genet 1998 0.78
31 The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism. Genomics 1998 0.77
32 Dinucleotide repeat polymorphism at the DXS1684 locus. Hum Mol Genet 1994 0.77
33 Identification of tissue-specific expressed sequences in human band Xq28 with complex pig cDNA probes. Mamm Genome 1994 0.77
34 Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. Genomics 2000 0.75
35 Rapid identification of gene sequences for transcriptional map assembly by direct cDNA screening of genomic reference libraries. Hum Mol Genet 1994 0.75