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Journal Abstract Search

640 related items for PubMed ID: 20522426

  • 1. 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; 47(6):377-84. PubMed ID: 20522426
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  • 4. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
    Lebedev IN, Nazarenko LP, Skryabin NA, Babushkina NP, Kashevarova AA.
    Am J Med Genet A; 2016 Aug; 170(8):2089-96. PubMed ID: 27288323
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  • 5. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB.
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
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  • 7. 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; 46(12):847-55. PubMed ID: 18812405
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  • 8. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.
    Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.
    J Med Genet; 2009 Sep; 46(9):635-40. PubMed ID: 19126570
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  • 9. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
    Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L.
    Eur J Hum Genet; 2006 Jun; 14(6):759-67. PubMed ID: 16570072
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  • 10. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.
    Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
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  • 12. DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation.
    Engels H, Brockschmidt A, Hoischen A, Landwehr C, Bosse K, Walldorf C, Toedt G, Radlwimmer B, Propping P, Lichter P, Weber RG.
    Neurology; 2007 Mar 06; 68(10):743-50. PubMed ID: 17339581
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  • 13. Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
    Bhoj E, Halbach S, McDonald-McGinn D, Tan C, Lande R, Waggoner D, Zackai E.
    Am J Med Genet A; 2013 Sep 06; 161A(9):2327-33. PubMed ID: 23913759
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  • 15. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
    Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.
    Eur J Med Genet; 2011 Sep 06; 54(1):42-9. PubMed ID: 20951845
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  • 16. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
    Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P.
    J Med Genet; 2009 Dec 06; 46(12):825-33. PubMed ID: 19584063
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  • 17. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
    Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR.
    Eur J Med Genet; 2005 Dec 06; 48(3):276-89. PubMed ID: 16179223
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  • 20. Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
    Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ.
    J Med Genet; 2011 May 06; 48(5):290-8. PubMed ID: 21343628
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