Santos-Rebouças CB - Search Results

1

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

Santos-Rebouças CB, Boy R, Fernandes GNS, Gonçalves AP, Abdala BB, Gonzalez LGC, Dos Santos JM, Pimentel MMG. Santos-Rebouças CB, et al. Eur J Med Genet. 2023 Apr;66(4):104716. doi: 10.1016/j.ejmg.2023.104716. Epub 2023 Jan 30. Eur J Med Genet. 2023. PMID: 36731745

2

The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.

dos Santos JM, Abdalla CB, Campos M Jr, Santos-Rebouças CB, Pimentel MM. dos Santos JM, et al. Neurosci Lett. 2005 Apr 29;379(1):13-6. doi: 10.1016/j.neulet.2004.12.036. Epub 2005 Jan 12. Neurosci Lett. 2005. PMID: 15814190

3

ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.

Gestinari-Duarte Rde S, Santos-Rebouças CB, Boy RT, Pimentel MM. Gestinari-Duarte Rde S, et al. Eur J Med Genet. 2006 May-Jun;49(3):269-75. doi: 10.1016/j.ejmg.2005.08.003. Epub 2005 Sep 26. Eur J Med Genet. 2006. PMID: 16762829

4

Implication of abnormal epigenetic patterns for human diseases.

Santos-Rebouças CB, Pimentel MM. Santos-Rebouças CB, et al. Eur J Hum Genet. 2007 Jan;15(1):10-7. doi: 10.1038/sj.ejhg.5201727. Epub 2006 Oct 18. Eur J Hum Genet. 2007. PMID: 17047674 Review.

5

Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.

Campos M Jr, Abdalla CB, Santos-Rebouças CB, dos Santos AV, Pestana CP, Domingues ML, dos Santos JM, Pimentel MM. Campos M Jr, et al. Brain Dev. 2007 Jun;29(5):293-7. doi: 10.1016/j.braindev.2006.09.012. Epub 2006 Nov 3. Brain Dev. 2007. PMID: 17084570

6

A study of LRRK2 mutations and Parkinson's disease in Brazil.

Pimentel MM, Moura KC, Abdalla CB, Pereira JS, de Rosso AL, Nicaretta DH, Campos M Jr, de Almeida RM, dos Santos JM, Bastos IC, Mendes MF, Maultasch H, Costa FH, Werneck AL, Santos-Rebouças CB. Pimentel MM, et al. Neurosci Lett. 2008 Mar 5;433(1):17-21. doi: 10.1016/j.neulet.2007.12.033. Epub 2007 Dec 23. Neurosci Lett. 2008. PMID: 18201824

7

A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male.

Campos M Jr, Abdalla CB, dos Santos AV, Pestana CP, dos Santos JM, Santos-Rebouças CB, Pimentel MM. Campos M Jr, et al. Brain Dev. 2009 Feb;31(2):176-8. doi: 10.1016/j.braindev.2008.07.001. Epub 2008 Aug 3. Brain Dev. 2009. PMID: 18678449

8

Co-occurrence of sporadic parkinsonism and late-onset Alzheimer's disease in a Brazilian male with the LRRK2 p.G2019S mutation.

Santos-Rebouças CB, Abdalla CB, Baldi FJ, Martins PA, Corrêa JC, Gonçalves AP, Cunha MS, Borges MB, Pereira JS, Laks J, Pimentel MM. Santos-Rebouças CB, et al. Genet Test. 2008 Dec;12(4):471-3. doi: 10.1089/gte.2008.0042. Genet Test. 2008. PMID: 19072560 Review.

9

The impact of folate pathway polymorphisms combined to nutritional deficiency as a maternal predisposition factor for Down syndrome.

Santos-Rebouças CB, Corrêa JC, Bonomo A, Fintelman-Rodrigues N, Moura KC, Rodrigues CS, Santos JM, Pimentel MM. Santos-Rebouças CB, et al. Dis Markers. 2008;25(3):149-57. doi: 10.1155/2008/487023. Dis Markers. 2008. PMID: 19096127 Free PMC article.

10

Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome.

Fintelman-Rodrigues N, Corrêa JC, Santos JM, Pimentel MM, Santos-Rebouças CB. Fintelman-Rodrigues N, et al. Dis Markers. 2009;26(4):155-61. doi: 10.3233/DMA-2009-0626. Dis Markers. 2009. PMID: 19729796 Free PMC article.

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