Orrico A - Search Results

1

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. 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

2

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. Eur J Hum Genet. 2004 Jan;12(1):16-23. doi: 10.1038/sj.ejhg.5201081. Eur J Hum Genet. 2004. PMID: 14560308

3

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.

Orrico A, Zollino M, Galli L, Buoni S, Marangi G, Sorrentino V. Orrico A, et al. Am J Med Genet A. 2009 May;149A(5):1033-5. doi: 10.1002/ajmg.a.32785. Am J Med Genet A. 2009. PMID: 19396834

4

An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?

Orrico A, Hayek G. Orrico A, et al. Clin Genet. 1997 Sep;52(3):177-9. doi: 10.1111/j.1399-0004.1997.tb02540.x. Clin Genet. 1997. PMID: 9377808

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. Am J Med Genet. 2001 Oct 1;103(2):157-9. doi: 10.1002/ajmg.1523. Am J Med Genet. 2001. PMID: 11568923

6

Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.

Orrico A, Galli L, Obregon MG, de Castro Perez MF, Falciani M, Sorrentino V. Orrico A, et al. Am J Med Genet A. 2007 Jan 1;143A(1):58-63. doi: 10.1002/ajmg.a.31562. Am J Med Genet A. 2007. PMID: 17152066

7

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino V. Orrico A, et al. Clin Genet. 2009 Feb;75(2):195-8. doi: 10.1111/j.1399-0004.2008.01074.x. Epub 2008 Aug 26. Clin Genet. 2009. PMID: 18759867

8

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. Orrico A, et al. Am J Med Genet A. 2010 Feb;152A(2):313-8. doi: 10.1002/ajmg.a.33199. Am J Med Genet A. 2010. PMID: 20082460

9

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

10

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Galli L, Orrico A, Lorenzini S, Censini S, Falciani M, Covacci A, Tegazzin V, Sorrentino V. Galli L, et al. Among authors: orrico a. Hum Mutat. 2006 Aug;27(8):830. doi: 10.1002/humu.9442. Hum Mutat. 2006. PMID: 16835904

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