Santos-Rebouças CB - Search Results

1

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

Dos Santos SR, Piergiorge RM, Rocha J, Abdala BB, Gonçalves AP, Pimentel MMG, Santos-Rebouças CB. Dos Santos SR, et al. Metab Brain Dis. 2022 Oct;37(7):2431-2440. doi: 10.1007/s11011-022-01024-2. Epub 2022 Jul 13. Metab Brain Dis. 2022. PMID: 35829845

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

Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat.

Santos-Rebouças CB, Abdalla CB, Fullston T, Campos M Jr, Pimentel MM, Gécz J. Santos-Rebouças CB, et al. Neurosci Lett. 2006 Apr 24;397(3):245-8. doi: 10.1016/j.neulet.2005.12.089. Epub 2006 Feb 15. Neurosci Lett. 2006. PMID: 16469443

4

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

5

Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.

de Souza Gestinari-Duarte R, Santos-Rebouças CB, Pimentel MMG. de Souza Gestinari-Duarte R, et al. J Hum Genet. 2006;51(8):737-740. doi: 10.1007/s10038-006-0014-4. Epub 2006 Jul 15. J Hum Genet. 2006. PMID: 16845484

6

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

7

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

8

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

9

High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.

Campos M Jr, Churchman SM, Santos-Rebouças CB, Ponchel F, Pimentel MM. Campos M Jr, et al. J Mol Neurosci. 2010 May;41(1):105-9. doi: 10.1007/s12031-009-9296-2. Epub 2009 Oct 6. J Mol Neurosci. 2010. PMID: 19806472

10

LRRK2 p.G2019S mutation is not common among Alzheimer's disease patients in Brazil.

Santos-Rebouças CB, Abdalla CB, Martins PA, Baldi FJ, Santos JM, Motta LB, de Borges MB, Souza DR, de Souza Pinhel MA, Laks J, Pimentel MM. Santos-Rebouças CB, et al. Dis Markers. 2009;27(1):13-6. doi: 10.3233/DMA-2009-0641. Dis Markers. 2009. PMID: 19822953 Free PMC article.

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