HUDA ZOGHBI to X Chromosome
This is a "connection" page, showing publications HUDA ZOGHBI has written about X Chromosome.
Connection Strength
2.697
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X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am J Hum Genet. 2004 Mar; 74(3):511-20.
Score: 0.196
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Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun; 10(3):275-9.
Score: 0.152
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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9.
Score: 0.151
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Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4.
Score: 0.150
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Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. Am J Med Genet. 2000 Jan 03; 90(1):69-71.
Score: 0.148
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct; 23(2):185-8.
Score: 0.145
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Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 1999 Jul 01; 59(1):77-84.
Score: 0.142
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Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998 Jul 15; 51(2):251-61.
Score: 0.133
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Mutation analysis of the M6b gene in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):165-8.
Score: 0.133
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Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):179-81.
Score: 0.133
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Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 1996 Jun 01; 34(2):166-72.
Score: 0.115
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Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. Am J Med Genet. 1993 Nov 15; 47(7):1124-34.
Score: 0.096
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The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet. 1993 Jul; 2(7):947-52.
Score: 0.094
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Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction. Genomics. 1992 Jun; 13(2):375-80.
Score: 0.087
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Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet. 1992 Feb; 50(2):278-87.
Score: 0.085
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MspI and MboI polymorphisms at the DXS704 locus. Nucleic Acids Res. 1991 Sep 25; 19(18):5101.
Score: 0.083
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A de novo X;3 translocation in Rett syndrome. Am J Med Genet. 1990 Jan; 35(1):148-51.
Score: 0.074
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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 01; 13(21):2679-89.
Score: 0.051
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Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet. 2003 Apr; 4(4):296-307.
Score: 0.046
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Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet. 2002 Dec 01; 11(25):3237-48.
Score: 0.045
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Introduction: Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):59-60.
Score: 0.042
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Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):82-6.
Score: 0.042
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Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome. 2001 Oct; 12(10):796-8.
Score: 0.042
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Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. 2001 Apr; 14(2):171-6.
Score: 0.040
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A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet. 1997 Sep; 61(3):634-41.
Score: 0.031
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Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders. Pediatr Res. 1997 May; 41(5):722-6.
Score: 0.031
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An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet. 1995 Oct; 4(10):1821-7.
Score: 0.027
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Molecular genetics of hereditary ataxias. Baillieres Clin Neurol. 1994 Aug; 3(2):281-95.
Score: 0.025
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A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. Hum Mol Genet. 1994 Jul; 3(7):1155-61.
Score: 0.025
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A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet. 1994 Apr; 3(4):547-52.
Score: 0.025
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Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet. 1994 Jan 15; 49(2):229-34.
Score: 0.024
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A high resolution deletion map of human chromosome Xp22. Nat Genet. 1993 Jul; 4(3):272-9.
Score: 0.023
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Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). Am J Hum Genet. 1991 Dec; 49(6):1312-9.
Score: 0.021
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Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet. 1991 Sep 01; 40(3):354-64.
Score: 0.021
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Genetic aspects of Rett syndrome. J Child Neurol. 1988; 3 Suppl:S76-8.
Score: 0.016