Pubblicazioni

 

Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 Sep;140(9):1299-1312. doi: 10.1007/s00439-021-02300-4.

https://pubmed.ncbi.nlm.nih.gov/34185153/

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Bosa L, Batura V, Colavito D, Fiedler K, Gaio P, Guo C, Li Q, Marzollo A, Mescoli C, Nambu R, Pan J, Perilongo G, Warner N, Zhang S, Kotlarz D, Klein C, Snapper SB, Walters TD, Leon A, Griffiths AM, Cananzi M, Muise AM. Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. Sci Rep. 2021 Mar 15;11(1):5945. doi: 10.1038/s41598-021-85399-9. PMID: 33723309.

https://pubmed.ncbi.nlm.nih.gov/33723309/

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Suppiej A, Ceccato C, Maritan V, Cermakova I, Colavito D, Leon A. Exome sequencing and electro-clinical features in pediatric patients with very early- onset retinal dystrophies: A cohort study. Eur J Paediatr Neurol. 2021 Mar;31:1-9. doi: 10.1016/j.ejpn.2021.01.003. PMID: 33529788.

https://pubmed.ncbi.nlm.nih.gov/33529788/

 

Lattante S, Doronzio PN, Conte A, Marangi G, Martello F, Bisogni G, Meleo E, Colavito D, Del Giudice E, Patanella AK, Bernardo D, Romano A, Zollino M, Sabatelli M. Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis. Hum Mol Genet. 2021 Mar 25;30(1):65-71. doi: 10.1093/hmg/ddab015. PMID: 33445179.

https://pubmed.ncbi.nlm.nih.gov/33445179/

 

Stabile M, Colavito D, Del Giudice E, Rispoli AF, Ingenito MC, Naumova AK. A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families. Mol Med Rep. 2020 Dec;22(6):4561-4566. doi: 10.3892/mmr.2020.11574. Epub 2020 Oct 9. PMID: 33173999.

https://pubmed.ncbi.nlm.nih.gov/33173999/

 

Farnè M, Tedesco GM, Bedetti C, Mencarelli A, Rogaia D, Colavito D, Di Cara G, Stangoni G, Troiani S, Ferlini A, Prontera P. A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile. Am J Med Genet A. 2020 Oct;182(10):2377-2383. doi: 10.1002/ajmg.a.61773. PMID: 32744787.

https://pubmed.ncbi.nlm.nih.gov/32744787/

 

Matarazzo L, Ragnoni V, Malaventura C, Leon A, Colavito D, Vigna GB, Lanza G, Sonzogni A, Maggiore G. Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiency. JIMD Rep. 2020 Apr 30;54(1):25-31. doi: 10.1002/jmd2.12125. PMID: 32685347.

https://pubmed.ncbi.nlm.nih.gov/32685347/

 

Rossi F, Bruno G, Fratta M, Colavito D, Casertano S, Sampaolo S, Oliva M, Puoti G. Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome. J Peripher Nerv Syst. 2020 Sep;25(3):308-311. doi: 10.1111/jns.12394. PMID: 32470188.

https://pubmed.ncbi.nlm.nih.gov/32470188/

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Marzollo A., Colavito D., Sartori S., Fanelli GN., Putti MC. Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome. J Clin Immunol. 2018 May;38(4):475-477.

https://www.ncbi.nlm.nih.gov/pubmed/29846842

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Cananzi M., Colavito D., Giorgi B. A Case of Constipation That Passed From Father to Son. Gastroenterology. 2018 Nov;155(5):1317-1318.

https://www.ncbi.nlm.nih.gov/pubmed/29653149

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