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826 results

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Page 1
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Costa CIS, da Silva Montenegro EM, Zarrei M, de Sá Moreira E, Silva IMW, de Oliveira Scliar M, Wang JYT, Zachi EC, Branco EV, da Costa SS, Lourenço NCV, Vianna-Morgante AM, Rosenberg C, Krepischi ACV, Scherer SW, Passos-Bueno MR. Costa CIS, et al. Among authors: rosenberg c. Clin Genet. 2022 Jan;101(1):134-141. doi: 10.1111/cge.14072. Epub 2021 Nov 15. Clin Genet. 2022. PMID: 34664255
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.
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
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Among authors: rosenberg c. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
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.
Germline DNA copy number variation in familial and early-onset breast cancer.
Krepischi AC, Achatz MI, Santos EM, Costa SS, Lisboa BC, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C. Krepischi AC, et al. Among authors: rosenberg c. Breast Cancer Res. 2012 Feb 7;14(1):R24. doi: 10.1186/bcr3109. Breast Cancer Res. 2012. PMID: 22314128 Free PMC article.
Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast.
Sens-Abuázar C, Napolitano E Ferreira E, Osório CA, Krepischi AC, Ricca TI, Castro NP, da Cunha IW, Maciel Mdo S, Rosenberg C, Brentani MM, Soares FA, Rocha RM, Carraro DM. Sens-Abuázar C, et al. Among authors: rosenberg c. Transl Oncol. 2012 Apr;5(2):113-23. doi: 10.1593/tlo.11280. Epub 2012 Apr 1. Transl Oncol. 2012. PMID: 22496928 Free PMC article.
826 results