Riegel M - Search Results

1

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

Giugliani R, Brusius-Facchin AC, Pasqualim G, Leistner-Segal S, Riegel M, Matte U. Giugliani R, et al. Among authors: riegel m. Expert Rev Mol Diagn. 2016;16(1):113-23. doi: 10.1586/14737159.2016.1121101. Epub 2015 Dec 9. Expert Rev Mol Diagn. 2016. PMID: 26567866 Review.

2

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R. Vairo F, et al. Among authors: riegel m. Appl Clin Genet. 2015 Oct 30;8:245-55. doi: 10.2147/TACG.S68650. eCollection 2015. Appl Clin Genet. 2015. PMID: 26586959 Free PMC article. Review.

3

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory.

Giugliani R, Federhen A, Michelin-Tirelli K, Riegel M, Burin M. Giugliani R, et al. Among authors: riegel m. Genet Mol Biol. 2017 Jan-Mar;40(1):31-39. doi: 10.1590/1678-4685-GMB-2016-0268. Epub 2017 Mar 16. Genet Mol Biol. 2017. PMID: 28304074 Free PMC article.

4

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS.

Giugliani R, Vairo F, Kubaski F, Poswar F, Riegel M, Baldo G, Saute JA. Giugliani R, et al. Among authors: riegel m. Lancet Child Adolesc Health. 2018 Jan;2(1):56-68. doi: 10.1016/S2352-4642(17)30087-1. Epub 2017 Oct 24. Lancet Child Adolesc Health. 2018. PMID: 30169196 Review.

5

Population medical genetics: translating science to the community.

Giugliani R, Bender F, Couto R, Bochernitsan A, Brusius-Facchin AC, Burin M, Amorim T, Acosta AX, Purificação A, Leistner-Segal S, Saraiva-Pereira ML, Jardim LB, Matte U, Riegel M, Cardoso-Dos-Santos AC, Rodrigues G, Oliveira MZ, Tagliani-Ribeiro A, Heck S, Dresch V, Schuler-Faccini L, Kubaski F. Giugliani R, et al. Among authors: riegel m. Genet Mol Biol. 2019;42(1 suppl 1):312-320. doi: 10.1590/1678-4685-GMB-2018-0096. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985854 Free PMC article.

6

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.

Vieira TA, Trapp FB, Souza CFM, Faccini LS, Jardim LB, Schwartz IVD, Riegel M, Vargas CR, Burin MG, Leistner-Segal S, Ashton-Prolla P, Giugliani R. Vieira TA, et al. Among authors: riegel m. Genet Mol Biol. 2019;42(1 suppl 1):155-164. doi: 10.1590/1678-4685-GMB-2018-0214. Epub 2019 Jun 10. Genet Mol Biol. 2019. PMID: 31188934 Free PMC article.

7

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.

Brusius-Facchin AC, De Souza CF, Schwartz IV, Riegel M, Melaragno MI, Correia P, Moraes LM, Llerena J Jr, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: riegel m. Am J Med Genet A. 2012 May;158A(5):1055-9. doi: 10.1002/ajmg.a.35271. Epub 2012 Apr 10. Am J Med Genet A. 2012. PMID: 22492741

8

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.

Emy Dorfman L, Leite JC, Giugliani R, Riegel M. Emy Dorfman L, et al. Among authors: riegel m. J Pediatr (Rio J). 2015 Jan-Feb;91(1):59-67. doi: 10.1016/j.jped.2014.05.007. Epub 2014 Sep 6. J Pediatr (Rio J). 2015. PMID: 25203518 Free article.

9

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.

Giugliani R, Vairo FP, Riegel M, de Souza CF, Schwartz IV, Pena SD. Giugliani R, et al. Among authors: riegel m. Orphanet J Rare Dis. 2016 Jun 10;11(1):76. doi: 10.1186/s13023-016-0458-3. Orphanet J Rare Dis. 2016. PMID: 27282290 Free PMC article. Review.

10

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years.

Karam SM, Barros AJ, Matijasevich A, Dos Santos IS, Anselmi L, Barros F, Leistner-Segal S, Félix TM, Riegel M, Maluf SW, Giugliani R, Black MM. Karam SM, et al. Among authors: riegel m. Public Health Genomics. 2016;19(5):290-7. doi: 10.1159/000448912. Epub 2016 Sep 6. Public Health Genomics. 2016. PMID: 27595410 Free PMC article.

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