Biamino E - 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: biamino e. 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

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

Ferrero GB, Biamino E, Sorasio L, Banaudi E, Peruzzi L, Forzano S, di Cantogno LV, Silengo MC. Ferrero GB, et al. Among authors: biamino e. Eur J Med Genet. 2007 Sep-Oct;50(5):327-37. doi: 10.1016/j.ejmg.2007.05.005. Epub 2007 Jun 6. Eur J Med Genet. 2007. PMID: 17625998

3

Congenital hypothyroidism, cerebellar atrophy, and the incomplete phenotypic expression of PHACES syndrome.

Mussa A, Corrias A, Baldassarre G, Biamino E, Silengo M. Mussa A, et al. Among authors: biamino e. Endocr J. 2008 Mar;55(1):231; author reply 233. doi: 10.1507/endocrj.k07e-155. Epub 2008 Feb 4. Endocr J. 2008. PMID: 18250537 Free article. No abstract available.

4

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC. Ferrero GB, et al. Among authors: biamino e. Eur J Med Genet. 2008 Nov-Dec;51(6):566-72. doi: 10.1016/j.ejmg.2008.06.011. Epub 2008 Jul 17. Eur J Med Genet. 2008. PMID: 18678287

5

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: biamino e. 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.

6

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G. Ferrero GB, et al. Among authors: biamino e. Eur J Hum Genet. 2010 Jan;18(1):33-8. doi: 10.1038/ejhg.2009.108. Eur J Hum Genet. 2010. PMID: 19568270 Free PMC article.

7

Remittent hyperammonemia in congenital portosystemic shunt.

Ferrero GB, Porta F, Biamino E, Mussa A, Garelli E, Chiappe F, Veltri A, Silengo MC, Gennari F. Ferrero GB, et al. Among authors: biamino e. Eur J Pediatr. 2010 Mar;169(3):369-72. doi: 10.1007/s00431-009-1031-z. Epub 2009 Jul 18. Eur J Pediatr. 2010. PMID: 19618212

8

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.

Sorasio L, Biamino E, Garelli E, Ferrero GB, Silengo MC. Sorasio L, et al. Among authors: biamino e. Clin Exp Dermatol. 2009 Dec;34(8):e726-8. doi: 10.1111/j.1365-2230.2009.03451.x. Epub 2009 Jul 29. Clin Exp Dermatol. 2009. PMID: 19663851

9

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: biamino e. Clin Genet. 2010 Jan;77(1):28-31. doi: 10.1111/j.1399-0004.2009.01347.x. Clin Genet. 2010. PMID: 20092588

10

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M. Caputo V, et al. Among authors: biamino e. Am J Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011. Am J Hum Genet. 2012. PMID: 22243968 Free PMC article.

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