Galli L - Search Results

1

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: galli l. FEBS Lett. 2000 Sep 22;481(3):285-8. doi: 10.1016/s0014-5793(00)01994-3. FEBS Lett. 2000. PMID: 11007980 Free article.

2

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. FEBS Lett. 1999 Oct 8;459(2):255-8. doi: 10.1016/s0014-5793(99)01248-x. FEBS Lett. 1999. PMID: 10518030 Free article.

3

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: galli l. FEBS Lett. 2000 Aug 4;478(3):216-20. doi: 10.1016/s0014-5793(00)01857-3. FEBS Lett. 2000. PMID: 10930571 Free article.

4

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: galli l. Neurology. 2002 Jan 22;58(2):226-30. doi: 10.1212/wnl.58.2.226. Neurology. 2002. PMID: 11805248

5

Possible case of Pitt-Hopkins syndrome in sibs.

Orrico A, Galli L, Zappella M, Lam CW, Bonifacio S, Torricelli F, Hayek G. Orrico A, et al. Among authors: galli l. Am J Med Genet. 2001 Oct 1;103(2):157-9. doi: 10.1002/ajmg.1523. Am J Med Genet. 2001. PMID: 11568923

6

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: galli l. 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

7

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

Orrico A, Galli L, Dotti MT, Plewnia K, Censini S, Federico A. Orrico A, et al. Among authors: galli l. Am J Med Genet. 1998 Jul 24;78(4):341-4. Am J Med Genet. 1998. PMID: 9714436

8

Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.

Orrico A, Galli L, Zappella M, Orsi A, Hayek G. Orrico A, et al. Among authors: galli l. J Child Neurol. 2001 Feb;16(2):150-3. doi: 10.1177/088307380101600219. J Child Neurol. 2001. PMID: 11292226

9

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. Cell Calcium. 2002 Sep;32(3):143-51. doi: 10.1016/s0143-4160(02)00138-0. Cell Calcium. 2002. PMID: 12208234

10

SCN1A mutation associated with atypical Panayiotopoulos syndrome.

Grosso S, Orrico A, Galli L, Di Bartolo R, Sorrentino V, Balestri P. Grosso S, et al. Among authors: galli l. Neurology. 2007 Aug 7;69(6):609-11. doi: 10.1212/01.wnl.0000266666.10404.53. Neurology. 2007. PMID: 17679682 No abstract available.

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