Published in Nature on October 18, 1990
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A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma. Graefes Arch Clin Exp Ophthalmol (1997) 0.75
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Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science (1994) 4.27
Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet (1998) 4.01
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Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy. Genomics (1991) 3.72
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Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet (1999) 2.20
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12
MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12
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MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet (2001) 2.04
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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet (2000) 1.84
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Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet (2000) 1.78
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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet (1999) 1.68
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
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Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. Am J Hum Genet (1990) 1.60
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Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet (1992) 1.55
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet (1999) 1.53
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Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet (1995) 1.47
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Hum Genet (1988) 1.47
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics (1989) 1.44
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
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Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet (1999) 1.41
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X-linked steroid sulfatase: evidence for different gene-dosage in males and females. Hum Genet (1980) 1.37
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Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. Genomics (1989) 1.24
Direct evidence for the control of mitochondrial respiration by mitochondrial creatine kinase in oxidative muscle cells in situ. J Biol Chem (2000) 1.23
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Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum Mol Genet (1994) 1.21
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