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Page 1
Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.
Zin OA, Neves LM, Motta FL, Horovitz DDG, Guida L, Gomes LHF, Cunha DP, Rodrigues APS, Zin AA, Sallum JMF, Vasconcelos ZFM. Zin OA, et al. Among authors: horovitz ddg. Genes (Basel). 2021 Jul 13;12(7):1069. doi: 10.3390/genes12071069. Genes (Basel). 2021. PMID: 34356085 Free PMC article.
Zika Virus Infection in Pregnant Women in Rio de Janeiro.
Brasil P, Pereira JP Jr, Moreira ME, Ribeiro Nogueira RM, Damasceno L, Wakimoto M, Rabello RS, Valderramos SG, Halai UA, Salles TS, Zin AA, Horovitz D, Daltro P, Boechat M, Raja Gabaglia C, Carvalho de Sequeira P, Pilotto JH, Medialdea-Carrera R, Cotrim da Cunha D, Abreu de Carvalho LM, Pone M, Machado Siqueira A, Calvet GA, Rodrigues Baião AE, Neves ES, Nassar de Carvalho PR, Hasue RH, Marschik PB, Einspieler C, Janzen C, Cherry JD, Bispo de Filippis AM, Nielsen-Saines K. Brasil P, et al. N Engl J Med. 2016 Dec 15;375(24):2321-2334. doi: 10.1056/NEJMoa1602412. Epub 2016 Mar 4. N Engl J Med. 2016. PMID: 26943629 Free PMC article.
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.
Zin OA, Neves LM, Cunha DP, Motta FL, Agonigi BNS, Horovitz DDG, Almeida DC Jr, Malacarne J, Rodrigues APS, Carvalho AB, Rivello CA, Espariz R, Zin AA, Sallum JMF, Vasconcelos ZFM. Zin OA, et al. Among authors: horovitz ddg. Int J Mol Sci. 2023 Jul 25;24(15):11876. doi: 10.3390/ijms241511876. Int J Mol Sci. 2023. PMID: 37569253 Free PMC article.
Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.
Schuler-Faccini L, Ribeiro EM, Feitosa IM, Horovitz DD, Cavalcanti DP, Pessoa A, Doriqui MJ, Neri JI, Neto JM, Wanderley HY, Cernach M, El-Husny AS, Pone MV, Serao CL, Sanseverino MT; Brazilian Medical Genetics Society–Zika Embryopathy Task Force. Schuler-Faccini L, et al. MMWR Morb Mortal Wkly Rep. 2016 Jan 29;65(3):59-62. doi: 10.15585/mmwr.mm6503e2. MMWR Morb Mortal Wkly Rep. 2016. PMID: 26820244 Free article.
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Mol Genet Metab. 2014 Feb;111(2):133-8. doi: 10.1016/j.ymgme.2013.08.011. Epub 2013 Sep 1. Mol Genet Metab. 2014. PMID: 24125893
The phenotypic spectrum of congenital Zika syndrome.
Del Campo M, Feitosa IM, Ribeiro EM, Horovitz DD, Pessoa AL, França GV, García-Alix A, Doriqui MJ, Wanderley HY, Sanseverino MV, Neri JI, Pina-Neto JM, Santos ES, Verçosa I, Cernach MC, Medeiros PF, Kerbage SC, Silva AA, van der Linden V, Martelli CM, Cordeiro MT, Dhalia R, Vianna FS, Victora CG, Cavalcanti DP, Schuler-Faccini L; Zika Embryopathy Task Force-Brazilian Society of Medical Genetics ZETF-SBGM. Del Campo M, et al. Am J Med Genet A. 2017 Apr;173(4):841-857. doi: 10.1002/ajmg.a.38170. Am J Med Genet A. 2017. PMID: 28328129
[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts].
Giugliani R, Federhen A, Muñoz Rojas MV, Vieira TA, Artigalás O, Pinto LL, Azevedo AC, Acosta AX, Bomfim C, Lourenço CM, Kim CA, Horovitz D, Souza DB, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares ER, Guarany F, De Lucca GR, Pimentel H, Souza IN, Corrêa Neto J, Fraga JC, Góes JE, Cabral JM, Simeonato J, Llerena JC Jr, Jardim LB, Giuliani Lde R, Silva LC, Santos M, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza CF, Alcântara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Rev Assoc Med Bras (1992). 2010 May-Jun;56(3):271-7. doi: 10.1590/s0104-42302010000300009. Rev Assoc Med Bras (1992). 2010. PMID: 20676532 Free article. Portuguese.
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.
Horovitz DD, Magalhães TS, Acosta A, Ribeiro EM, Giuliani LR, Palhares DB, Kim CA, de Paula AC, Kerstenestzy M, Pianovski MA, Costa MI, Santos FC, Martins AM, Aranda CS, Correa Neto J, Holanda GB, Cardoso L Jr, da Silva CA, Bonatti RC, Ribeiro BF, Rodrigues Mdo C, Llerena JC Jr. Horovitz DD, et al. Mol Genet Metab. 2013 May;109(1):62-9. doi: 10.1016/j.ymgme.2013.02.014. Epub 2013 Mar 5. Mol Genet Metab. 2013. PMID: 23535281 Free article.
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Barth AL, de Magalhães TSPC, Reis ABR, de Oliveira ML, Scalco FB, Cavalcanti NC, Silva DSE, Torres DA, Costa AAP, Bonfim C, Giugliani R, Llerena JC Jr, Horovitz DDG. Barth AL, et al. Among authors: horovitz ddg. Mol Genet Metab Rep. 2017 Jun 8;12:62-68. doi: 10.1016/j.ymgmr.2017.05.010. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28649514 Free PMC article.
66 results