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Journal Abstract Search

385 related items for PubMed ID: 19372089

  • 1. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
    van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB.
    J Med Genet; 2009 Aug; 46(8):511-23. PubMed ID: 19372089
    [Abstract] [Full Text] [Related]

  • 2. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
    Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.
    J Med Genet; 2009 Apr; 46(4):242-8. PubMed ID: 18805830
    [Abstract] [Full Text] [Related]

  • 3. Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
    Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R.
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1109. PubMed ID: 31991071
    [Abstract] [Full Text] [Related]

  • 4. Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
    Rosenfeld JA, Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Tsai AC, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, Sahoo T, Bejjani B, Weaver DD, Shaffer LG.
    Eur J Hum Genet; 2011 May; 19(5):547-54. PubMed ID: 21248749
    [Abstract] [Full Text] [Related]

  • 5. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
    Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE.
    Nat Genet; 2008 Mar; 40(3):322-8. PubMed ID: 18278044
    [Abstract] [Full Text] [Related]

  • 6. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
    Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A.
    Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
    [Abstract] [Full Text] [Related]

  • 7. Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.
    Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I.
    Epilepsy Res; 2014 Jan; 108(1):109-16. PubMed ID: 24246141
    [Abstract] [Full Text] [Related]

  • 8. Delineation of 15q13.3 microdeletions.
    Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L.
    Clin Genet; 2010 Aug; 78(2):149-61. PubMed ID: 20236110
    [Abstract] [Full Text] [Related]

  • 9. Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
    Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS.
    Genet Med; 2015 Feb; 17(2):149-57. PubMed ID: 25077648
    [Abstract] [Full Text] [Related]

  • 10. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
    Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG.
    Hum Genet; 2011 Oct; 130(4):517-28. PubMed ID: 21359847
    [Abstract] [Full Text] [Related]

  • 11. Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder.
    Kogan JH, Gross AK, Featherstone RE, Shin R, Chen Q, Heusner CL, Adachi M, Lin A, Walton NM, Miyoshi S, Miyake S, Tajinda K, Ito H, Siegel SJ, Matsumoto M.
    J Neurosci; 2015 Dec 09; 35(49):16282-94. PubMed ID: 26658876
    [Abstract] [Full Text] [Related]

  • 12. Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
    Hoppman-Chaney N, Wain K, Seger PR, Superneau DW, Hodge JC.
    Clin Genet; 2013 Apr 09; 83(4):345-51. PubMed ID: 22775350
    [Abstract] [Full Text] [Related]

  • 13. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
    Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T.
    J Med Genet; 2009 Jun 09; 46(6):382-8. PubMed ID: 19289393
    [Abstract] [Full Text] [Related]

  • 14. Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome.
    Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I.
    Epilepsia; 2011 Dec 09; 52(12):e194-8. PubMed ID: 22050399
    [Abstract] [Full Text] [Related]

  • 15. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
    Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P.
    Hum Mutat; 2010 Jul 09; 31(7):840-50. PubMed ID: 20506139
    [Abstract] [Full Text] [Related]

  • 16. The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
    Ziats MN, Goin-Kochel RP, Berry LN, Ali M, Ge J, Guffey D, Rosenfeld JA, Bader P, Gambello MJ, Wolf V, Penney LS, Miller R, Lebel RR, Kane J, Bachman K, Troxell R, Clark G, Minard CG, Stankiewicz P, Beaudet A, Schaaf CP.
    Genet Med; 2016 Nov 09; 18(11):1111-1118. PubMed ID: 26963284
    [Abstract] [Full Text] [Related]

  • 17. A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.
    Ehmke N, Karge S, Buchmann J, Korinth D, Horn D, Reis O, Häßler F.
    Am J Med Genet A; 2017 May 09; 173(5):1251-1256. PubMed ID: 28345786
    [Abstract] [Full Text] [Related]

  • 18. Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation.
    Colovati MES, Grossi BM, Nunes GD, Fock RA, Guedes DR, Melaragno MI, Cernach MCSP.
    Cytogenet Genome Res; 2019 May 09; 158(4):192-198. PubMed ID: 31394532
    [Abstract] [Full Text] [Related]

  • 19. A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion.
    Banka S, Fitzgibbon GJ, Gaunt L, Rankin WJ, Clayton-Smith J.
    Am J Med Genet A; 2011 Jun 09; 155A(6):1453-7. PubMed ID: 21574246
    [Abstract] [Full Text] [Related]

  • 20. The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
    Loviglio MN, Arbogast T, Jønch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S, 16p11.2 Consortium, Yalcin B, Katsanis N, Golzio C, Reymond A.
    Am J Hum Genet; 2017 Oct 05; 101(4):564-577. PubMed ID: 28965845
    [Abstract] [Full Text] [Related]

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