Venturin M - Search Results

1

A tandem duplication of chromosome 21 in a newborn showing a phenotype inconsistent with Down syndrome.

Martinoli E, Zuccotti GV, Pogliani L, Volontè M, Venturin M, Fortina P, Ertel A, Redaelli S, Riva P, Dalprà L. Martinoli E, et al. Among authors: venturin m. Am J Med Genet A. 2010 Apr;152A(4):1043-5. doi: 10.1002/ajmg.a.33335. Am J Med Genet A. 2010. PMID: 20358625 No abstract available.

2

Characterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams-Beuren syndrome region in chromosomal rearrangements.

Portera G, Venturin M, Patrizi A, Martinoli E, Riva P, Dalprà L. Portera G, et al. Among authors: venturin m. J Hum Genet. 2006;51(1):68-75. doi: 10.1007/s10038-005-0326-9. Epub 2005 Dec 3. J Hum Genet. 2006. PMID: 16328081

3

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.

Gervasini C, Bentivegna A, Venturin M, Corrado L, Larizza L, Riva P. Gervasini C, et al. Among authors: venturin m. Hum Genet. 2002 Apr;110(4):314-21. doi: 10.1007/s00439-002-0704-8. Epub 2002 Mar 20. Hum Genet. 2002. PMID: 11941479

4

ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome.

Venturin M, Carra S, Gaudenzi G, Brunelli S, Gallo GR, Moncini S, Cotelli F, Riva P. Venturin M, et al. J Med Genet. 2014 Jul;51(7):436-43. doi: 10.1136/jmedgenet-2013-102240. Epub 2014 Apr 7. J Med Genet. 2014. PMID: 24711647 Free article.

5

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

Longoni M, Moncini S, Cisternino M, Morella IM, Ferraiuolo S, Russo S, Mannarino S, Brazzelli V, Coi P, Zippel R, Venturin M, Riva P. Longoni M, et al. Among authors: venturin m. Am J Med Genet A. 2010 Sep;152A(9):2176-84. doi: 10.1002/ajmg.a.33564. Am J Med Genet A. 2010. PMID: 20683980

6

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Venturin M, Gervasini C, Orzan F, Bentivegna A, Corrado L, Colapietro P, Friso A, Tenconi R, Upadhyaya M, Larizza L, Riva P. Venturin M, et al. Hum Genet. 2004 Jun;115(1):69-80. doi: 10.1007/s00439-004-1101-2. Epub 2004 Apr 21. Hum Genet. 2004. PMID: 15103551

7

Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.

Orzan F, Stroppi M, Venturin M, Valero MC, Hernández C, Riva P. Orzan F, et al. Among authors: venturin m. Neurogenetics. 2008 May;9(2):95-100. doi: 10.1007/s10048-007-0115-z. Epub 2008 Jan 10. Neurogenetics. 2008. PMID: 18196300

8

The Long Non-Coding RNAs in Neurodegenerative Diseases: Novel Mechanisms of Pathogenesis.

Riva P, Ratti A, Venturin M. Riva P, et al. Among authors: venturin m. Curr Alzheimer Res. 2016;13(11):1219-1231. doi: 10.2174/1567205013666160622112234. Curr Alzheimer Res. 2016. PMID: 27338628 Free article. Review.

9

Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers.

Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P. Bentivegna A, et al. Among authors: venturin m. Hum Genet. 2001 Jul;109(1):48-54. doi: 10.1007/s004390100536. Hum Genet. 2001. PMID: 11479735

10

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L, Riva P. Venturin M, et al. J Med Genet. 2004 Jan;41(1):35-41. doi: 10.1136/jmg.2003.014761. J Med Genet. 2004. PMID: 14729829 Free PMC article. No abstract available.

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