Bertorelli R - Search Results

1

The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

Bertorelli R, Capone L, Ambrosetti F, Garavelli L, Varriale L, Mazza V, Stanghellini I, Percesepe A, Forabosco A. Bertorelli R, et al. Clin Genet. 2007 Nov;72(5):490-1. doi: 10.1111/j.1399-0004.2007.00875.x. Clin Genet. 2007. PMID: 17935511 No abstract available.

2

Unexpected phenotype in a boy with trisomy of the SHOX gene.

Iughetti L, Capone L, Elsedfy H, Bertorelli R, Predieri B, Bruzzi P, Forabosco A, El Kholy M. Iughetti L, et al. Among authors: bertorelli r. J Pediatr Endocrinol Metab. 2010 Jan-Feb;23(1-2):159-69. doi: 10.1515/jpem.2010.23.1-2.159. J Pediatr Endocrinol Metab. 2010. PMID: 20432819

3

Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe.

Stanghellini I, Bertorelli R, Capone L, Mazza V, Neri C, Percesepe A, Forabosco A. Stanghellini I, et al. Among authors: bertorelli r. Mol Hum Reprod. 2006 Sep;12(9):587-91. doi: 10.1093/molehr/gal052. Epub 2006 Jul 4. Mol Hum Reprod. 2006. PMID: 16820404

4

Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate.

Stanghellini I, Dassi E, Bertorelli R, De Sanctis V, Caleffi A, Landi A, Percesepe A. Stanghellini I, et al. Among authors: bertorelli r. Eur J Med Genet. 2015 Nov;58(11):597-602. doi: 10.1016/j.ejmg.2015.09.010. Epub 2015 Sep 28. Eur J Med Genet. 2015. PMID: 26420031

5

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness.

Coviello DA, Brambati B, Tului L, Percesepe A, Sironi F, Sahai A, Bertorelli R, Forabosco A. Coviello DA, et al. Among authors: bertorelli r. Prenat Diagn. 2004 Aug;24(8):631-4. doi: 10.1002/pd.954. Prenat Diagn. 2004. PMID: 15305352

6

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

Mariani S, Iughetti L, Bertorelli R, Coviello D, Pellegrini M, Forabosco A, Bernasconi S. Mariani S, et al. Among authors: bertorelli r. J Pediatr Endocrinol Metab. 2003 Feb;16(2):225-32. doi: 10.1515/jpem.2003.16.2.225. J Pediatr Endocrinol Metab. 2003. PMID: 12713262

7

Enhanced microbial diversity in the saliva microbiome induced by short-term probiotic intake revealed by 16S rRNA sequencing on the IonTorrent PGM platform.

Dassi E, Ballarini A, Covello G; HTM-CMB2013; Quattrone A, Jousson O, De Sanctis V, Bertorelli R, Denti MA, Segata N. Dassi E, et al. Among authors: bertorelli r. J Biotechnol. 2014 Nov 20;190:30-9. doi: 10.1016/j.jbiotec.2014.03.024. Epub 2014 Mar 23. J Biotechnol. 2014. PMID: 24670254

8

The short-term impact of probiotic consumption on the oral cavity microbiome.

Dassi E, Ferretti P, Covello G; HTM-CMB-2015; Bertorelli R, Denti MA, De Sanctis V, Tett A, Segata N. Dassi E, et al. Among authors: bertorelli r. Sci Rep. 2018 Jul 11;8(1):10476. doi: 10.1038/s41598-018-28491-x. Sci Rep. 2018. PMID: 29992994 Free PMC article.

9

The new phylogeny of the genus Mycobacterium: The old and the news.

Tortoli E, Fedrizzi T, Meehan CJ, Trovato A, Grottola A, Giacobazzi E, Serpini GF, Tagliazucchi S, Fabio A, Bettua C, Bertorelli R, Frascaro F, De Sanctis V, Pecorari M, Jousson O, Segata N, Cirillo DM. Tortoli E, et al. Among authors: bertorelli r. Infect Genet Evol. 2017 Dec;56:19-25. doi: 10.1016/j.meegid.2017.10.013. Epub 2017 Oct 11. Infect Genet Evol. 2017. PMID: 29030295

10

HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation.

Rosa A, Chande A, Ziglio S, De Sanctis V, Bertorelli R, Goh SL, McCauley SM, Nowosielska A, Antonarakis SE, Luban J, Santoni FA, Pizzato M. Rosa A, et al. Among authors: bertorelli r. Nature. 2015 Oct 8;526(7572):212-7. doi: 10.1038/nature15399. Epub 2015 Sep 30. Nature. 2015. PMID: 26416734 Free PMC article.

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