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Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.
Simioni M, Vieira TP, Sgardioli IC, Freitas EL, Rosenberg C, Maurer-Morelli CV, Lopes-Cendes I, Fett-Conte AC, Gil-da-Silva-Lopes VL. Simioni M, et al. Among authors: rosenberg c. Am J Med Genet A. 2012 Nov;158A(11):2905-10. doi: 10.1002/ajmg.a.35603. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991255
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.
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MA, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Among authors: rosenberg c. Am J Med Genet A. 2011 Nov;155A(11):2754-61. doi: 10.1002/ajmg.a.34168. Epub 2011 Sep 21. Am J Med Genet A. 2011. PMID: 21948691 Free PMC article.
838 results