Splendore A - Search Results

1

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. Splendore A, et al. Hum Mutat. 2000 Oct;16(4):315-22. doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H. Hum Mutat. 2000. PMID: 11013442 Review.

2

Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

Splendore A, Jabs EW, Félix TM, Passos-Bueno MR. Splendore A, et al. Eur J Hum Genet. 2003 Sep;11(9):718-22. doi: 10.1038/sj.ejhg.5201029. Eur J Hum Genet. 2003. PMID: 12939661

3

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.

Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR. Splendore A, et al. Hum Mutat. 2005 May;25(5):429-34. doi: 10.1002/humu.20159. Hum Mutat. 2005. PMID: 15832313

4

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.

Masotti C, Armelin-Correa LM, Splendore A, Lin CJ, Barbosa A, Sogayar MC, Passos-Bueno MR. Masotti C, et al. Among authors: splendore a. Gene. 2005 Oct 10;359:44-52. doi: 10.1016/j.gene.2005.06.004. Gene. 2005. PMID: 16102917

5

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.

Splendore A, Jabs EW, Passos-Bueno MR. Splendore A, et al. J Med Genet. 2002 Jul;39(7):493-5. doi: 10.1136/jmg.39.7.493. J Med Genet. 2002. PMID: 12114482 Free PMC article. No abstract available.

6

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.

Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas Rda S, Zechi-Ceide R, Guion-Almeida ML, Passos-Bueno MR. Masotti C, et al. Among authors: splendore a. Eur J Hum Genet. 2008 Feb;16(2):145-52. doi: 10.1038/sj.ejhg.5201955. Epub 2007 Nov 14. Eur J Hum Genet. 2008. PMID: 18000524

7

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.

Splendore A, Passos-Bueno MR, Jabs EW, Van Maldergem L, Wulfsberg EA. Splendore A, et al. Am J Med Genet. 2002 Aug 15;111(3):324-7. doi: 10.1002/ajmg.10567. Am J Med Genet. 2002. PMID: 12210332 No abstract available.

8

GATA1 mutations in acute leukemia in children with Down syndrome.

Magalhães IQ, Splendore A, Emerenciano M, Figueiredo A, Ferrari I, Pombo-de-Oliveira MS. Magalhães IQ, et al. Among authors: splendore a. Cancer Genet Cytogenet. 2006 Apr 15;166(2):112-6. doi: 10.1016/j.cancergencyto.2005.10.008. Cancer Genet Cytogenet. 2006. PMID: 16631466

9

GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature.

Splendore A, Magalhães IQ, Pombo-de-Oliveira MS. Splendore A, et al. Hum Mutat. 2005 Oct;26(4):390-2. doi: 10.1002/humu.20233. Hum Mutat. 2005. PMID: 16134163 Review. No abstract available.

10

Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation.

Magalhães IQ, Splendore A, Emerenciano M, Córdoba MS, Córdoba JC, Allemand PA, Ferrari I, Pombo-de-Oliveira MS. Magalhães IQ, et al. Among authors: splendore a. J Pediatr Hematol Oncol. 2005 Jan;27(1):50-2. doi: 10.1097/01.mph.0000151801.26478.03. J Pediatr Hematol Oncol. 2005. PMID: 15654280

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