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Journal Abstract Search

161 related items for PubMed ID: 23664828

  • 1. Microdeletion syndromes.
    Carvill GL, Mefford HC.
    Curr Opin Genet Dev; 2013 Jun; 23(3):232-9. PubMed ID: 23664828
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  • 2. Microdeletion and microduplication syndromes.
    Vissers LE, Stankiewicz P.
    Methods Mol Biol; 2012 Jun; 838():29-75. PubMed ID: 22228006
    [Abstract] [Full Text] [Related]

  • 3. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
    Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F.
    Arch Neurol; 2012 Mar; 69(3):322-30. PubMed ID: 22083797
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  • 4. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.
    Quintela I, Gomez-Guerrero L, Fernandez-Prieto M, Resches M, Barros F, Carracedo A.
    Am J Med Genet A; 2015 Dec; 167A(12):3121-9. PubMed ID: 26332054
    [Abstract] [Full Text] [Related]

  • 5. Recent developments in the genetics of autism spectrum disorders.
    Murdoch JD, State MW.
    Curr Opin Genet Dev; 2013 Jun; 23(3):310-5. PubMed ID: 23537858
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  • 6. Duplication hotspots, rare genomic disorders, and common disease.
    Mefford HC, Eichler EE.
    Curr Opin Genet Dev; 2009 Jun; 19(3):196-204. PubMed ID: 19477115
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  • 8. Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.
    Mohan KN, Cao Y, Pham J, Cheung SW, Hoffner L, Ou ZZ, Surti U, Cook EH, Beaudet AL.
    J Hum Genet; 2019 Mar; 64(3):253-255. PubMed ID: 30542208
    [Abstract] [Full Text] [Related]

  • 9. An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
    Labonne JD, Lee KH, Iwase S, Kong IK, Diamond MP, Layman LC, Kim CH, Kim HG.
    Hum Genet; 2016 Jul; 135(7):757-71. PubMed ID: 27106595
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  • 11. Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review.
    Han JY, Park J.
    Genes (Basel); 2021 Jun 29; 12(7):. PubMed ID: 34210021
    [Abstract] [Full Text] [Related]

  • 12. 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.
    Ramalingam A, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu HY, Yu S.
    J Hum Genet; 2011 Jul 29; 56(7):541-4. PubMed ID: 21614007
    [Abstract] [Full Text] [Related]

  • 13. Detection and characterization of copy number variation in autism spectrum disorder.
    Marshall CR, Scherer SW.
    Methods Mol Biol; 2012 Jul 29; 838():115-35. PubMed ID: 22228009
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  • 18. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
    Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.
    Am J Hum Genet; 2011 Oct 07; 89(4):551-63. PubMed ID: 21981781
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  • 19. Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.
    Rodenas-Cuadrado P, Pietrafusa N, Francavilla T, La Neve A, Striano P, Vernes SC.
    BMC Med Genet; 2016 Feb 03; 17():8. PubMed ID: 26843181
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