HUDA ZOGHBI to Base Sequence
This is a "connection" page, showing publications HUDA ZOGHBI has written about Base Sequence.
Connection Strength
0.889
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.108
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In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development. Proc Natl Acad Sci U S A. 2011 Feb 22; 108(8):3288-93.
Score: 0.066
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Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet. 2000 Mar 22; 9(5):779-85.
Score: 0.031
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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: 0.031
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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: 0.030
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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: 0.030
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Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):176-8.
Score: 0.028
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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: 0.028
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Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. Am J Hum Genet. 2018 02 01; 102(2):296-308.
Score: 0.027
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Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Genomics. 1997 Dec 01; 46(2):268-77.
Score: 0.027
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Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis. Hum Mol Genet. 1996 Sep; 5(9):1207-16.
Score: 0.024
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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: 0.024
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Detection of chimerism in YAC clones. Methods Mol Biol. 1996; 54:115-21.
Score: 0.023
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Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol. 1995 Jul; 38(1):68-72.
Score: 0.022
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Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1995 Jul; 10(3):344-50.
Score: 0.022
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Analysis of the CAG repeat and gene product in spinocerebellar ataxia type 1. Proc Assoc Am Physicians. 1995 Jul; 107(2):231-6.
Score: 0.022
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Spinocerebellar ataxia type 1. Semin Cell Biol. 1995 Feb; 6(1):29-35.
Score: 0.022
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Spinocerebellar ataxia type 1. Clin Neurosci. 1995; 3(1):5-11.
Score: 0.022
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Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994 Aug; 7(4):513-20.
Score: 0.021
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Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics. 1993 Dec; 18(3):627-35.
Score: 0.020
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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: 0.020
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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul; 4(3):221-6.
Score: 0.020
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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: 0.020
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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: 0.018
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Two dinucleotide repeat polymorphisms at the D6S202 locus. Nucleic Acids Res. 1991 Nov 11; 19(21):6060.
Score: 0.017
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Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. Hum Mol Genet. 2012 Jan 15; 21(2):394-405.
Score: 0.017
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MspI and MboI polymorphisms at the DXS704 locus. Nucleic Acids Res. 1991 Sep 25; 19(18):5101.
Score: 0.017
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Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. Genomics. 1991 Aug; 10(4):921-6.
Score: 0.017
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Sixty-five radiation hybrids for the short arm of human chromosome 6: their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR. Genomics. 1991 Apr; 9(4):713-20.
Score: 0.017
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Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene. Mol Cell Biol. 2001 Feb; 21(3):811-3.
Score: 0.008
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Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet. 2000 Dec; 67(6):1428-36.
Score: 0.008
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Autoregulation and multiple enhancers control Math1 expression in the developing nervous system. Development. 2000 Mar; 127(6):1185-96.
Score: 0.008
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Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry. 1998 Feb 24; 37(8):2701-8.
Score: 0.007
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Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum Mol Genet. 1996 Jan; 5(1):33-40.
Score: 0.006
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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: 0.006
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SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 1995 Sep 22; 82(6):937-48.
Score: 0.006
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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: 0.005
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Chromosome assignment of human brain expressed sequence tags (ESTs) by analyzing fluorescently labeled PCR products from hybrid cell panels. Cytogenet Cell Genet. 1994; 65(1-2):86-91.
Score: 0.005
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Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet. 1993 Nov; 5(3):254-8.
Score: 0.005
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Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23. Genomics. 1993 Nov; 18(2):355-9.
Score: 0.005
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Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. Nucleic Acids Res. 1993 Sep 11; 21(18):4259-67.
Score: 0.005
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A high resolution deletion map of human chromosome Xp22. Nat Genet. 1993 Jul; 4(3):272-9.
Score: 0.005
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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992 Dec; 51(6):1229-39.
Score: 0.005
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Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. Genomics. 1992 Nov; 14(3):813-5.
Score: 0.005
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Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Genomics. 1992 Apr; 12(4):801-6.
Score: 0.004
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Dinucleotide repeat polymorphism at the D6S109 locus. Nucleic Acids Res. 1991 Mar 11; 19(5):1171.
Score: 0.004