Rizzo IM - Search Results

1

Separase prevents genomic instability by controlling replication fork speed.

Cucco F, Palumbo E, Camerini S, D'Alessio B, Quarantotti V, Casella ML, Rizzo IM, Cukrov D, Delia D, Russo A, Crescenzi M, Musio A. Cucco F, et al. Among authors: rizzo im. Nucleic Acids Res. 2018 Jan 9;46(1):267-278. doi: 10.1093/nar/gkx1172. Nucleic Acids Res. 2018. PMID: 29165708 Free PMC article.

2

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.

Mannini L, C Lamaze F, Cucco F, Amato C, Quarantotti V, Rizzo IM, Krantz ID, Bilodeau S, Musio A. Mannini L, et al. Among authors: rizzo im. Sci Rep. 2015 Nov 19;5:16803. doi: 10.1038/srep16803. Sci Rep. 2015. PMID: 26581180 Free PMC article.

3

Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ. Abu Bakar N, et al. Among authors: de rizzo impo. J Inherit Metab Dis. 2022 Jul;45(4):769-781. doi: 10.1002/jimd.12496. Epub 2022 Mar 28. J Inherit Metab Dis. 2022. PMID: 35279850 Free PMC article.

4

Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.

Uchôa Cavalcanti EB, Santos SCL, Martins CES, de Carvalho DR, Rizzo IMPO, Freitas MCDNB, da Silva Freitas D, de Souza FS, Junior AM, do Nascimento OJM. Uchôa Cavalcanti EB, et al. Among authors: rizzo impo. J Peripher Nerv Syst. 2021 Sep;26(3):290-297. doi: 10.1111/jns.12458. Epub 2021 Jul 5. J Peripher Nerv Syst. 2021. PMID: 34190362

5

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.

Abe KT, Rizzo IMPO, Coelho ALV, Sakai N Jr, Carvalho DR, Speck-Martins CE. Abe KT, et al. Among authors: rizzo impo. Clin Case Rep. 2018 May 28;6(7):1300-1307. doi: 10.1002/ccr3.1600. eCollection 2018 Jul. Clin Case Rep. 2018. PMID: 29988626 Free PMC article.

6

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Santos SCL, Rizzo IMPO, Takata RI, Speck-Martins CE, Brum JM, Sollaci C. Santos SCL, et al. Among authors: rizzo impo. Mol Genet Genomic Med. 2018 May;6(3):382-392. doi: 10.1002/mgg3.382. Epub 2018 Mar 12. Mol Genet Genomic Med. 2018. PMID: 29529714 Free PMC article.

7

Sphingosine 1-phosphate signaling axis mediates fibroblast growth factor 2-induced proliferation and survival of murine auditory neuroblasts.

Bruno M, Rizzo IM, Romero-Guevara R, Bernacchioni C, Cencetti F, Donati C, Bruni P. Bruno M, et al. Among authors: rizzo im. Biochim Biophys Acta Mol Cell Res. 2017 May;1864(5):814-824. doi: 10.1016/j.bbamcr.2017.02.004. Epub 2017 Feb 7. Biochim Biophys Acta Mol Cell Res. 2017. PMID: 28188805 Free article.

8

Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations.

Carvalho DR, Rizzo IM, Farage L, Barros AL, Speck-Martins CE. Carvalho DR, et al. Among authors: rizzo im. Clin Dysmorphol. 2008 Oct;17(4):273-4. doi: 10.1097/MCD.0b013e3283079e90. Clin Dysmorphol. 2008. PMID: 18978658 Review. No abstract available.

9

Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.

Brum JM, Rizzo IM, Mello WD, Speck-Martins CE. Brum JM, et al. Among authors: rizzo im. Arq Neuropsiquiatr. 2008 Sep;66(3A):545-8. doi: 10.1590/s0004-282x2008000400021. Arq Neuropsiquiatr. 2008. PMID: 18813717 Free article. No abstract available.

10

Homozygosity enhances severity in spinocerebellar ataxia type 3.

Carvalho DR, La Rocque-Ferreira A, Rizzo IM, Imamura EU, Speck-Martins CE. Carvalho DR, et al. Among authors: rizzo im. Pediatr Neurol. 2008 Apr;38(4):296-9. doi: 10.1016/j.pediatrneurol.2007.12.006. Pediatr Neurol. 2008. PMID: 18358414

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