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847 results

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Page 1
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
Silva AG, Krepischi AC, Torrezan GT, Capelli LP, Carraro DM, D'Angelo CS, Koiffmann CP, Zatz M, Naslavsky MS, Masotti C, Otto PA, Achatz MI, Mills RE, Lee C, Pearson PL, Rosenberg C. Silva AG, et al. Among authors: rosenberg c. Eur J Hum Genet. 2014 Mar;22(3):307-9. doi: 10.1038/ejhg.2013.134. Epub 2013 Jun 19. Eur J Hum Genet. 2014. PMID: 23778870 Free PMC article. No abstract available.
Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women.
Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonça BB, Szuhai K, Otto PA. Cheroki C, et al. Among authors: rosenberg c. Am J Med Genet A. 2006 Jun 15;140(12):1339-42. doi: 10.1002/ajmg.a.31254. Am J Med Genet A. 2006. PMID: 16691591 No abstract available.
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Shaw-Smith C, et al. Among authors: rosenberg c. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
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.
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC. Silva AG, et al. Among authors: rosenberg c. BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237. BMC Cancer. 2012. PMID: 22691290 Free PMC article.
847 results