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Journal Abstract Search

220 related items for PubMed ID: 19557438

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  • 4. 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
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  • 5. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.
    El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW.
    Genet Med; 2010 Sep; 12(9):573-86. PubMed ID: 20860070
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  • 7. 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; 49(2):110-8. PubMed ID: 22180641
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  • 10. 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 Feb; 51(6):520-6. PubMed ID: 18755302
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  • 11. Chromosome 15q24 microdeletion syndrome.
    Magoulas PL, El-Hattab AW.
    Orphanet J Rare Dis; 2012 Jan 04; 7():2. PubMed ID: 22216833
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  • 13. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
    Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.
    Nat Genet; 2006 Sep 04; 38(9):1038-42. PubMed ID: 16906162
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  • 14. Characterization of a recurrent 15q24 microdeletion syndrome.
    Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE.
    Hum Mol Genet; 2007 Mar 01; 16(5):567-72. PubMed ID: 17360722
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  • 15. 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 01; 58(3):140-7. PubMed ID: 25596525
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  • 16. Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
    Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y.
    Am J Med Genet A; 2012 Feb 01; 158A(2):412-6. PubMed ID: 22140075
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  • 20. 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
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