Molinatto C - Search Results

1

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.

Belligni EF, Di Gregorio E, Biamino E, Calcia A, Molinatto C, Talarico F, Ferrero GB, Brusco A, Silengo MC. Belligni EF, et al. Among authors: molinatto c. Eur J Med Genet. 2012 Mar;55(3):222-4. doi: 10.1016/j.ejmg.2012.01.016. Epub 2012 Feb 6. Eur J Med Genet. 2012. PMID: 22365944

2

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A. Giorgio E, et al. Among authors: molinatto c. Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25. Am J Med Genet A. 2016. PMID: 27108886 Free article.

3

Eyebrow anomalies as a diagnostic sign of genomic disorders.

Silengo M, Belligni E, Molinatto C, Baldassarre G, Biamino E, Chiesa N, Zuffardi O, Girirajan S, Eichler EE, Ferrero GB. Silengo M, et al. Among authors: molinatto c. Clin Genet. 2010 Jan;77(1):28-31. doi: 10.1111/j.1399-0004.2009.01347.x. Clin Genet. 2010. PMID: 20092588

4

Prevalence of Beckwith-Wiedemann syndrome in North West of Italy.

Mussa A, Russo S, De Crescenzo A, Chiesa N, Molinatto C, Selicorni A, Richiardi L, Larizza L, Silengo MC, Riccio A, Ferrero GB. Mussa A, et al. Among authors: molinatto c. Am J Med Genet A. 2013 Oct;161A(10):2481-6. doi: 10.1002/ajmg.a.36080. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918458

5

Constitutional bone impairment in Noonan syndrome.

Baldassarre G, Mussa A, Carli D, Molinatto C, Ferrero GB. Baldassarre G, et al. Among authors: molinatto c. Am J Med Genet A. 2017 Mar;173(3):692-698. doi: 10.1002/ajmg.a.38086. Am J Med Genet A. 2017. PMID: 28211980

6

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB. Mussa A, et al. Among authors: molinatto c. Clin Genet. 2016 Jul;90(1):21-7. doi: 10.1111/cge.12759. Epub 2016 Mar 15. Clin Genet. 2016. PMID: 26857110

7

α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes.

Mussa A, Pagliardini S, Pagliardini V, Molinatto C, Baldassarre G, Corrias A, Silengo MC, Ferrero GB. Mussa A, et al. Among authors: molinatto c. Pediatr Res. 2014 Dec;76(6):544-8. doi: 10.1038/pr.2014.126. Epub 2014 Aug 28. Pediatr Res. 2014. PMID: 25167201

8

Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele.

Mussa A, Carli D, Cardaropoli S, Molinatto C, Ferrero GB. Mussa A, et al. Among authors: molinatto c. J Assist Reprod Genet. 2018 Oct;35(10):1925-1926. doi: 10.1007/s10815-018-1288-0. Epub 2018 Aug 8. J Assist Reprod Genet. 2018. PMID: 30090960 Free PMC article. No abstract available.

9

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Belligni EF, Biamino E, Molinatto C, Messa J, Pierluigi M, Faravelli F, Zuffardi O, Ferrero GB, Silengo MC. Belligni EF, et al. Among authors: molinatto c. Ital J Pediatr. 2009 Apr 27;35(1):9. doi: 10.1186/1824-7288-35-9. Ital J Pediatr. 2009. PMID: 19490664 Free PMC article.

10

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.

Gazzin A, Carli D, Sirchia F, Molinatto C, Cardaropoli S, Palumbo G, Zampino G, Ferrero GB, Mussa A. Gazzin A, et al. Among authors: molinatto c. Am J Med Genet A. 2019 Sep;179(9):1691-1702. doi: 10.1002/ajmg.a.61301. Epub 2019 Jul 24. Am J Med Genet A. 2019. PMID: 31339634

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