Sorrentino V - Search Results

1

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).

Orrico A, Galli L, Falciani M, Bracci M, Cavaliere ML, Rinaldi MM, Musacchio A, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. FEBS Lett. 2000 Aug 4;478(3):216-20. doi: 10.1016/s0014-5793(00)01857-3. FEBS Lett. 2000. PMID: 10930571 Free article.

2

Structure and mutation analysis of the glycogen storage disease type 1b gene.

Marcolongo P, Barone V, Priori G, Pirola B, Giglio S, Biasucci G, Zammarchi E, Parenti G, Burchell A, Benedetti A, Sorrentino V. Marcolongo P, et al. Among authors: sorrentino v. FEBS Lett. 1998 Oct 2;436(2):247-50. doi: 10.1016/s0014-5793(98)01129-6. FEBS Lett. 1998. PMID: 9781688 Free article.

3

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam C, Benedetti A, Sorrentino V. Galli L, et al. Among authors: sorrentino v. FEBS Lett. 1999 Oct 8;459(2):255-8. doi: 10.1016/s0014-5793(99)01248-x. FEBS Lett. 1999. PMID: 10518030 Free article.

4

MECP2 mutation in male patients with non-specific X-linked mental retardation.

Orrico A, Lam C, Galli L, Dotti MT, Hayek G, Tong SF, Poon PM, Zappella M, Federico A, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. FEBS Lett. 2000 Sep 22;481(3):285-8. doi: 10.1016/s0014-5793(00)01994-3. FEBS Lett. 2000. PMID: 11007980 Free article.

5

A Rett syndrome MECP2 mutation that causes mental retardation in men.

Dotti MT, Orrico A, De Stefano N, Battisti C, Sicurelli F, Severi S, Lam CW, Galli L, Sorrentino V, Federico A. Dotti MT, et al. Among authors: sorrentino v. Neurology. 2002 Jan 22;58(2):226-30. doi: 10.1212/wnl.58.2.226. Neurology. 2002. PMID: 11805248

6

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.

Galli L, Orrico A, Cozzolino S, Pietrini V, Tegazzin V, Sorrentino V. Galli L, et al. Among authors: sorrentino v. Cell Calcium. 2002 Sep;32(3):143-51. doi: 10.1016/s0143-4160(02)00138-0. Cell Calcium. 2002. PMID: 12208234

7

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. Eur J Hum Genet. 2004 Jan;12(1):16-23. doi: 10.1038/sj.ejhg.5201081. Eur J Hum Genet. 2004. PMID: 14560308

8

Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene.

Pietrini V, Marbini A, Galli L, Sorrentino V. Pietrini V, et al. Among authors: sorrentino v. J Neurol. 2004 Jan;251(1):102-4. doi: 10.1007/s00415-004-0220-y. J Neurol. 2004. PMID: 14999498 No abstract available.

9

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. Am J Med Genet A. 2005 May 15;135(1):99-102. doi: 10.1002/ajmg.a.30700. Am J Med Genet A. 2005. PMID: 15809997

10

SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy.

Buoni S, Orrico A, Galli L, Zannolli R, Burroni L, Hayek J, Fois A, Sorrentino V. Buoni S, et al. Among authors: sorrentino v. Neurology. 2006 Feb 28;66(4):606-7. doi: 10.1212/01.WNL.0000198504.41315.B1. Neurology. 2006. PMID: 16505326 No abstract available.

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