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Journal Abstract Search

603 related items for PubMed ID: 17873649

  • 21. Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.
    Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A.
    Orphanet J Rare Dis; 2011 Apr 19; 6():17. PubMed ID: 21504564
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  • 22. Delineation of the cryptic 1qter deletion phenotype.
    Merritt JL, Zou Y, Jalal SM, Michels VV.
    Am J Med Genet A; 2007 Mar 15; 143A(6):599-603. PubMed ID: 17304549
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  • 24. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
    Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA.
    Am J Med Genet A; 2010 Oct 15; 152A(10):2459-67. PubMed ID: 20830797
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  • 25. Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.
    Nowakowska B, Stankiewicz P, Obersztyn E, Ou Z, Li J, Chinault AC, Smyk M, Borg K, Mazurczak T, Cheung SW, Bocian E.
    Am J Med Genet A; 2008 Sep 15; 146A(18):2361-9. PubMed ID: 18698622
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  • 27. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
    Tyson C, McGillivray B, Chijiwa C, Rajcan-Separovic E.
    Am J Med Genet A; 2004 Sep 01; 129A(3):254-60. PubMed ID: 15326624
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  • 28. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
    Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T.
    Eur J Hum Genet; 2010 Apr 01; 18(4):429-35. PubMed ID: 19920853
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  • 29. 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 01; 167A(12):3121-9. PubMed ID: 26332054
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  • 30. Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.
    Veredice C, Bianco F, Contaldo I, Orteschi D, Stefanini MC, Battaglia D, Lettori D, Guzzetta F, Zollino M.
    Epilepsia; 2009 Jul 01; 50(7):1810-5. PubMed ID: 19486360
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  • 31. 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
    Jaillard S, Dubourg C, Gérard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet AC, Lucas J, Aboura A, David V, Benzacken B, Odent S, Pipiras E.
    J Med Genet; 2009 Dec 01; 46(12):847-55. PubMed ID: 18812405
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  • 34. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
    Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M, Kitsiou-Tzeli S, Kanavakis E.
    Gene; 2012 Sep 15; 506(2):360-8. PubMed ID: 22766398
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  • 35. Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register.
    Brøndum-Nielsen K, Christensen K.
    Clin Genet; 1996 Sep 15; 50(3):116-20. PubMed ID: 8946108
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  • 36. 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 15; 14(4):333-9. PubMed ID: 21787116
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  • 37. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
    Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG.
    Am J Hum Genet; 2010 Mar 12; 86(3):454-61. PubMed ID: 20206336
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  • 38. 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 12; 47(6):377-84. PubMed ID: 20522426
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  • 39. Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.
    Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA.
    BMC Med Genet; 2008 Apr 11; 9():27. PubMed ID: 18405349
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  • 40. Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
    Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR.
    Am J Med Genet A; 2007 Jun 15; 143A(12):1348-53. PubMed ID: 17506097
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