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Items: 8

1.

The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: An Evolutive Approach.

Brussa Reis L, Turchetto-Zolet AC, Fonini M, Ashton-Prolla P, Rosset C.

Genes (Basel). 2019 Oct 24;10(11). pii: E839. doi: 10.3390/genes10110839.

2.

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

Rosset C, Vairo F, Cristina Bandeira I, Fonini M, Netto CBO, Ashton-Prolla P.

Expert Rev Mol Diagn. 2018 Jun;18(6):577-586. doi: 10.1080/14737159.2018.1468256. Epub 2018 Apr 27.

PMID:
29685074
3.

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

Schneider NB, Pastor T, Paula AE, Achatz MI, Santos ÂRD, Vianna FSL, Rosset C, Pinheiro M, Ashton-Prolla P, Moreira MÂM, Palmero EI; Brazilian Lynch Syndrome Study Group.

Cancer Med. 2018 May;7(5):2078-2088. doi: 10.1002/cam4.1316. Epub 2018 Mar 25.

4.

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Rosset C, Vairo F, Bandeira IC, Correia RL, de Goes FV, da Silva RTB, Bueno LSM, de Miranda Gomes MCS, Galvão HCR, Neri JICF, Achatz MI, Netto CBO, Ashton-Prolla P.

PLoS One. 2017 Oct 2;12(10):e0185713. doi: 10.1371/journal.pone.0185713. eCollection 2017.

5.

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review.

Rosset C, Netto CBO, Ashton-Prolla P.

Genet Mol Biol. 2017 Jan-Mar;40(1):69-79. doi: 10.1590/1678-4685-GMB-2015-0321. Epub 2017 Feb 20.

6.

Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil.

Souza Mario Bueno L, Rosset C, Aguiar E, Pereira Fde S, Izetti Ribeiro P, Scalco R, Matzenbacher Bittar C, Brinckmann Oliveira Netto C, Gischkow Rucatti G, Chies JA, Camey SA, Ashton-Prolla P.

Int J Endocrinol. 2015;2015:402838. doi: 10.1155/2015/402838. Epub 2015 Jun 16.

7.

Factor VIII mutations and inhibitor formation in a southern Brazilian population.

Rosset C, Gorziza RP, Botton MR, Salzano FM, Bandinelli E.

Blood Coagul Fibrinolysis. 2014 Mar;25(2):125-7. doi: 10.1097/MBC.0b013e328364cc83.

PMID:
23963097
8.

Genetic changes in severe haemophilia A: new contribution to the aetiology of a complex disease.

Gorziza RP, Vieira IA, Kappel DB, Rosset C, Sinigaglia M, Leiria LB, Salzano FM, Bandinelli E.

Blood Coagul Fibrinolysis. 2013 Mar;24(2):164-9. doi: 10.1097/MBC.0b013e32835aefa2. Erratum in: Blood Coagul Fibrinolysis. 2014 Jun;25(4):405.

PMID:
23249616

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