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Journal Abstract Search

1086 related items for PubMed ID: 29549028

  • 1. 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]

  • 2. Chromosome 15q24 microdeletion syndrome.
    Magoulas PL, El-Hattab AW.
    Orphanet J Rare Dis; 2012 Jan 04; 7():2. PubMed ID: 22216833
    [Abstract] [Full Text] [Related]

  • 3. Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.
    Liu Y, Mapow B.
    Mol Genet Genomic Med; 2020 Jul 04; 8(7):e1265. PubMed ID: 32400031
    [Abstract] [Full Text] [Related]

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  • 5. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
    Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.
    Eur J Med Genet; 2015 Mar 04; 58(3):140-7. PubMed ID: 25596525
    [Abstract] [Full Text] [Related]

  • 6. [Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome].
    Jing X, Zhang L, Li R, Zhang Y, Li F, Yi C, Liao C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul 10; 36(7):672-675. PubMed ID: 31302908
    [Abstract] [Full Text] [Related]

  • 7. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.
    Kiholm Lund AB, Hove HD, Kirchhoff M.
    Eur J Med Genet; 2008 Jul 10; 51(6):520-6. PubMed ID: 18755302
    [Abstract] [Full Text] [Related]

  • 8. Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.
    Liu Y, Zhang Y, Zarrei M, Dong R, Yang X, Zhao D, Scherer SW, Gai Z.
    Am J Med Genet B Neuropsychiatr Genet; 2020 Jun 10; 183(4):217-226. PubMed ID: 31953991
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 46(8):511-23. PubMed ID: 19372089
    [Abstract] [Full Text] [Related]

  • 10. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
    El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P.
    Hum Genet; 2009 Oct 10; 126(4):589-602. PubMed ID: 19557438
    [Abstract] [Full Text] [Related]

  • 11. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
    Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R.
    Eur J Pediatr; 2008 Aug 10; 167(8):903-8. PubMed ID: 17932688
    [Abstract] [Full Text] [Related]

  • 12. An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.
    L Ng IS, Chin WH, P Lim EC, Tan EC.
    Twin Res Hum Genet; 2011 Aug 10; 14(4):333-9. PubMed ID: 21787116
    [Abstract] [Full Text] [Related]

  • 13. Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?
    Pavone P, Falsaperla R, Rizzo R, Praticò AD, Ruggieri M.
    Eur J Med Genet; 2019 Jan 10; 62(1):47-54. PubMed ID: 29864511
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 46(4):242-8. PubMed ID: 18805830
    [Abstract] [Full Text] [Related]

  • 15. Distal 22q11.2 microduplication encompassing the BCR gene.
    Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM.
    Am J Med Genet A; 2008 Dec 01; 146A(23):3075-81. PubMed ID: 19006218
    [Abstract] [Full Text] [Related]

  • 16. Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.
    Previdi A, Jordan P, Egloff C, Coussement A, Ahmed-Eli S, Tudal L, Bienvenu T, Picone O, Dupont JM.
    Clin Genet; 2024 Nov 01; 106(5):537-544. PubMed ID: 39012202
    [Abstract] [Full Text] [Related]

  • 17. Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.
    Vuillaume ML, Delrue MA, Naudion S, Toutain J, Fergelot P, Arveiler B, Lacombe D, Rooryck C.
    Mol Genet Metab; 2013 Nov 01; 110(1-2):90-7. PubMed ID: 23920044
    [Abstract] [Full Text] [Related]

  • 18. [Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].
    Zhang LN, Meng Z, He ZW, Li DF, Luo XY, Liang LY.
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 Sep 01; 18(9):840-845. PubMed ID: 27655541
    [Abstract] [Full Text] [Related]

  • 19. Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
    Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE.
    J Med Genet; 2012 Feb 01; 49(2):110-8. PubMed ID: 22180641
    [Abstract] [Full Text] [Related]

  • 20. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.
    Chang J, Zhao L, Chen C, Peng Y, Xia Y, Tang G, Bai T, Zhang Y, Ma R, Guo R, Mei L, Liang D, Cao Q, Wu L.
    Gene; 2015 Sep 10; 569(1):46-50. PubMed ID: 26099517
    [Abstract] [Full Text] [Related]

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