Connection

HUDA ZOGHBI to X Chromosome

This is a "connection" page, showing publications HUDA ZOGHBI has written about X Chromosome.
Connection Strength

2.697
  1. 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.
    View in: PubMed
    Score: 0.196
  2. Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun; 10(3):275-9.
    View in: PubMed
    Score: 0.152
  3. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9.
    View in: PubMed
    Score: 0.151
  4. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4.
    View in: PubMed
    Score: 0.150
  5. 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.
    View in: PubMed
    Score: 0.148
  6. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct; 23(2):185-8.
    View in: PubMed
    Score: 0.145
  7. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 1999 Jul 01; 59(1):77-84.
    View in: PubMed
    Score: 0.142
  8. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998 Jul 15; 51(2):251-61.
    View in: PubMed
    Score: 0.133
  9. Mutation analysis of the M6b gene in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):165-8.
    View in: PubMed
    Score: 0.133
  10. 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.
    View in: PubMed
    Score: 0.133
  11. 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.
    View in: PubMed
    Score: 0.115
  12. 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.
    View in: PubMed
    Score: 0.096
  13. 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.
    View in: PubMed
    Score: 0.094
  14. 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.
    View in: PubMed
    Score: 0.087
  15. 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.
    View in: PubMed
    Score: 0.085
  16. MspI and MboI polymorphisms at the DXS704 locus. Nucleic Acids Res. 1991 Sep 25; 19(18):5101.
    View in: PubMed
    Score: 0.083
  17. A de novo X;3 translocation in Rett syndrome. Am J Med Genet. 1990 Jan; 35(1):148-51.
    View in: PubMed
    Score: 0.074
  18. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 01; 13(21):2679-89.
    View in: PubMed
    Score: 0.051
  19. Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet. 2003 Apr; 4(4):296-307.
    View in: PubMed
    Score: 0.046
  20. 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.
    View in: PubMed
    Score: 0.045
  21. Introduction: Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):59-60.
    View in: PubMed
    Score: 0.042
  22. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):82-6.
    View in: PubMed
    Score: 0.042
  23. 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.
    View in: PubMed
    Score: 0.042
  24. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. 2001 Apr; 14(2):171-6.
    View in: PubMed
    Score: 0.040
  25. 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.
    View in: PubMed
    Score: 0.031
  26. Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders. Pediatr Res. 1997 May; 41(5):722-6.
    View in: PubMed
    Score: 0.031
  27. 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.
    View in: PubMed
    Score: 0.027
  28. Molecular genetics of hereditary ataxias. Baillieres Clin Neurol. 1994 Aug; 3(2):281-95.
    View in: PubMed
    Score: 0.025
  29. 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.
    View in: PubMed
    Score: 0.025
  30. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet. 1994 Apr; 3(4):547-52.
    View in: PubMed
    Score: 0.025
  31. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet. 1994 Jan 15; 49(2):229-34.
    View in: PubMed
    Score: 0.024
  32. A high resolution deletion map of human chromosome Xp22. Nat Genet. 1993 Jul; 4(3):272-9.
    View in: PubMed
    Score: 0.023
  33. 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.
    View in: PubMed
    Score: 0.021
  34. 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.
    View in: PubMed
    Score: 0.021
  35. Genetic aspects of Rett syndrome. J Child Neurol. 1988; 3 Suppl:S76-8.
    View in: PubMed
    Score: 0.016
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.