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47 results

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Page 1
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. Zhang C, et al. Among authors: boy r. HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047859 Free PMC article.
A clinical study of 77 patients with mucopolysaccharidosis type II.
Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, Santos ES, Monlleo IL, Fett-Conte AC, Sobrinho RP, Norato DY, Paula AC, Kim CA, Duarte AR, Boy R, Valadares E, De Michelena M, Mabe P, Martinhago CD, Pina-Neto JM, Kok F, Leistner-Segal S, Burin MG, Giugliani R. Schwartz IV, et al. Among authors: boy r. Acta Paediatr. 2007 Apr;96(455):63-70. doi: 10.1111/j.1651-2227.2007.00212.x. Acta Paediatr. 2007. PMID: 17391446
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T, Sperb-Ludwig F, Lima SE, S Carvalho MR, S Fonseca PA, S Camelo J Jr, M Ribeiro E, F V de Medeiros P, M Lourenço C, F M de Souza C, Boy R, Félix TM, M Bittar C, L C Pinto L, C Neto E, J Blom H, D Schwartz IV. Borsatto T, et al. Among authors: boy r. PLoS One. 2017 May 12;12(5):e0177503. doi: 10.1371/journal.pone.0177503. eCollection 2017. PLoS One. 2017. PMID: 28498829 Free PMC article.
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R. Azevedo AC, et al. Among authors: boy r. Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x. Clin Genet. 2004. PMID: 15324318
Clinical and biochemical studies in mucopolysaccharidosis type II carriers.
Schwartz IVD, Pinto LLC, Breda G, Lima L, Ribeiro MG, Mota JG, Acosta AX, Correia P, Horovitz DDG, Porciuncula CGG, Lipinski-Figueiredo E, Fett-Conte AC, Oliveira Sobrinho RP, Norato DYJ, Paula AC, Kim CA, Duarte AR, Boy R, Leistner-Segal S, Burin MG, Giugliani R. Schwartz IVD, et al. Among authors: boy r. J Inherit Metab Dis. 2009 Dec;32(6):732-738. doi: 10.1007/s10545-009-1275-9. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821143
[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. Among authors: boy r. 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.
47 results