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Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Carvalho CM, et al. Among authors: rosenberg c. Am J Hum Genet. 2014 Nov 6;95(5):565-78. doi: 10.1016/j.ajhg.2014.10.006. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439725 Free PMC article.
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH. Ullmann R, et al. Among authors: rosenberg c. Hum Mutat. 2007 Jul;28(7):674-82. doi: 10.1002/humu.20546. Hum Mutat. 2007. PMID: 17480035
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome.
Mazzeu JF, Krepischi-Santos AC, Rosenberg C, Szuhai K, Knijnenburg J, Weiss JM, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello Rde C, Otto PA, Vianna-Morgante AM. Mazzeu JF, et al. Among authors: rosenberg c. Am J Med Genet A. 2007 Aug 1;143A(15):1790-5. doi: 10.1002/ajmg.a.31661. Am J Med Genet A. 2007. PMID: 17603805 No abstract available.
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G. Bauters M, et al. Among authors: rosenberg c. Genome Res. 2008 Jun;18(6):847-58. doi: 10.1101/gr.075903.107. Epub 2008 Apr 2. Genome Res. 2008. PMID: 18385275 Free PMC article.
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: rosenberg c. Am J Med Genet A. 2010 Mar;152A(3):638-45. doi: 10.1002/ajmg.a.33292. Am J Med Genet A. 2010. PMID: 20186789
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.
Krepischi AC, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C. Krepischi AC, et al. Among authors: rosenberg c. Epilepsia. 2010 Dec;51(12):2457-60. doi: 10.1111/j.1528-1167.2010.02742.x. Epub 2010 Sep 30. Epilepsia. 2010. PMID: 21204806 Free article.
840 results