Brunetti-Pierri N - Search Results

1

Long-term follow-up of an individual with ITPR1-related disorder.

Cappuccio G, Apuzzo D, Passalacqua P, Parrini E, D'Amico A, Montini T, Brunetti-Pierri N. Cappuccio G, et al. Am J Med Genet A. 2020 Jul;182(7):1846-1847. doi: 10.1002/ajmg.a.61609. Epub 2020 Jun 4. Am J Med Genet A. 2020. PMID: 32496011 No abstract available.

2

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G. Rossi M, et al. Am J Med Genet A. 2005 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. Am J Med Genet A. 2005. PMID: 15580635 Review.

3

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.

Cerbone M, Wang J, Van der Maarel SM, D'Amico A, D'Agostino A, Romano A, Brunetti-Pierri N. Cerbone M, et al. Am J Med Genet A. 2012 Aug;158A(8):2043-6. doi: 10.1002/ajmg.a.35486. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786748 Free PMC article.

4

Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

Cappuccio G, Brunetti-Pierri N. Cappuccio G, et al. Eur J Med Genet. 2012 Dec;55(12):705-7. doi: 10.1016/j.ejmg.2012.08.006. Epub 2012 Aug 31. Eur J Med Genet. 2012. PMID: 23000147

5

Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.

Cappuccio G, Brunetti-Pierri N, Terrone G, Romano A, Andria G, Del Giudice E. Cappuccio G, et al. JIMD Rep. 2013;9:113-116. doi: 10.1007/8904_2012_188. Epub 2012 Oct 30. JIMD Rep. 2013. PMID: 23430556 Free PMC article.

6

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.

Cappuccio G, De Crescenzo A, Ciancia G, Canta L, Moio M, Mataro I, Varone V, Pettinato G, Palumbo O, Carella M, Riccio A, Brunetti-Pierri N. Cappuccio G, et al. Am J Med Genet A. 2014 Jan;164A(1):182-5. doi: 10.1002/ajmg.a.36191. Epub 2013 Nov 8. Am J Med Genet A. 2014. PMID: 24214456

7

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Am J Med Genet A. 2014 Jan;164A(1):190-3. doi: 10.1002/ajmg.a.36200. Epub 2013 Nov 15. Am J Med Genet A. 2014. PMID: 24243641

8

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.

Terrone G, Voisin N, Abdullah Alfaiz A, Cappuccio G, Vitiello G, Guex N, D'Amico A, James Barkovich A, Brunetti-Pierri N, Del Giudice E, Reymond A. Terrone G, et al. Eur J Hum Genet. 2016 Aug;24(9):1359-62. doi: 10.1038/ejhg.2016.7. Epub 2016 Feb 10. Eur J Hum Genet. 2016. PMID: 26860062 Free PMC article.

9

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.

Terrone G, Vitiello G, Genesio R, D'Amico A, Imperati F, Ugga L, Giugliano T, Piluso G, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Eur J Paediatr Neurol. 2017 Nov;21(6):902-906. doi: 10.1016/j.ejpn.2017.07.006. Epub 2017 Jul 20. Eur J Paediatr Neurol. 2017. PMID: 28754298

10

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Cappuccio G, Pinelli M, Torella A, Alagia M, Auricchio R, Staiano A, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Am J Med Genet A. 2017 Oct;173(10):2743-2746. doi: 10.1002/ajmg.a.38367. Epub 2017 Aug 2. Am J Med Genet A. 2017. PMID: 28767192

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