HUDA ZOGHBI to Child
This is a "connection" page, showing publications HUDA ZOGHBI has written about Child.
Connection Strength
0.380
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Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders. Neuroscience. 2020 10 01; 445:190-206.
Score: 0.042
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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: 0.036
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Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. Cell. 2016 Oct 06; 167(2):293-297.
Score: 0.033
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Childhood disorders of the synapse: challenges and opportunities. Sci Transl Med. 2012 Sep 19; 4(152):152ps17.
Score: 0.025
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Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol. 2012 Mar 01; 4(3).
Score: 0.024
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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75.
Score: 0.023
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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82.
Score: 0.021
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The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 08; 56(3):422-37.
Score: 0.018
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Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders. Ann Clin Transl Neurol. 2025 Feb; 12(2):433-447.
Score: 0.015
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
Score: 0.015
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Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr; 10(2):118-28.
Score: 0.014
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Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet. 2002 Aug 01; 111(2):164-8.
Score: 0.012
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Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center. Int J Dev Neurosci. 2002 Jun-Aug; 20(3-5):467-8.
Score: 0.012
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Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51.
Score: 0.012
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Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 02 01; 29(3):459-470.
Score: 0.010
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The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology. 1997 Oct; 49(4):1009-13.
Score: 0.009
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Trinucleotide repeat disorders in pediatrics. Curr Opin Pediatr. 1995 Dec; 7(6):715-25.
Score: 0.008
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Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord. 2014 Mar; 44(3):703-11.
Score: 0.007
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NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.007
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Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann Neurol. 1989 Jan; 25(1):56-60.
Score: 0.005
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Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neurol. 1988 Jun; 23(6):580-4.
Score: 0.005
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Genetic aspects of Rett syndrome. J Child Neurol. 1988; 3 Suppl:S76-8.
Score: 0.004
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.004
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Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med. 1985 Oct 10; 313(15):921-4.
Score: 0.004
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The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12; 64(7):1258-60.
Score: 0.004
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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995 May; 10(1):89-93.
Score: 0.002
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Rett syndrome: controlled study of an oral opiate antagonist, naltrexone. Ann Neurol. 1994 Apr; 35(4):464-70.
Score: 0.002
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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: 0.002
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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: 0.001
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Neuropathology of Rett syndrome. Acta Neuropathol. 1988; 76(2):142-58.
Score: 0.001
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Rett syndrome: qualitative and quantitative differentiation from autism. J Child Neurol. 1988; 3 Suppl:S65-7.
Score: 0.001
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Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging. Arch Neurol. 1987 Oct; 44(10):1053-6.
Score: 0.001
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Rett's syndrome: characterization of respiratory patterns and sleep. Ann Neurol. 1987 Apr; 21(4):377-82.
Score: 0.001
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Rett syndrome: discrimination of typical and variant forms. Brain Dev. 1987; 9(5):458-61.
Score: 0.001
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Rett syndrome: initial experience with an emerging clinical entity. Brain Dev. 1985; 7(3):300-4.
Score: 0.001