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Journal Abstract Search

283 related items for PubMed ID: 22180641

  • 1. 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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  • 2. 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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  • 3. 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 04; 167(8):903-8. PubMed ID: 17932688
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  • 6. 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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  • 9. 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 01; 126(4):589-602. PubMed ID: 19557438
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  • 11. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.
    Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G.
    Am J Med Genet A; 2015 Mar 01; 167A(3):504-11. PubMed ID: 25572454
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  • 17. 1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
    Tim-Aroon T, Jinawath N, Thammachote W, Sinpitak P, Limrungsikul A, Khongkhatithum C, Wattanasirichaigoon D.
    Am J Med Genet A; 2017 Mar 01; 173(3):766-770. PubMed ID: 28211977
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  • 19. Novel microdeletion syndromes detected by chromosome microarrays.
    Slavotinek AM.
    Hum Genet; 2008 Aug 01; 124(1):1-17. PubMed ID: 18512078
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  • 20. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
    Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.
    J Med Genet; 2010 Jun 01; 47(6):377-84. PubMed ID: 20522426
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