Orsi A - Search Results

1

Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.

Caselli R, Mencarelli MA, Papa FT, Ariani F, Longo I, Meloni I, Vonella G, Acampa M, Auteri A, Vicari S, Orsi A, Hayek G, Renieri A, Mari F. Caselli R, et al. Among authors: orsi a. Am J Med Genet A. 2008 May 1;146A(9):1195-9. doi: 10.1002/ajmg.a.32197. Am J Med Genet A. 2008. PMID: 18348270

2

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: orsi a. J Child Neurol. 2001 Feb;16(2):150-3. doi: 10.1177/088307380101600219. J Child Neurol. 2001. PMID: 11292226

3

Polydactyly with ectodermal defect, osteopenia, and mental delay.

Zannolli R, Buoni S, Viviano M, Macucci F, D'Ambrosio A, Livi W, Mazzei MA, Mazzei F, Sacco P, Volterrani L, Vonella G, Orsi A, Zappella M, Hayek J. Zannolli R, et al. Among authors: orsi a. J Child Neurol. 2008 Jun;23(6):683-9. doi: 10.1177/0883073807309778. Epub 2008 Jan 8. J Child Neurol. 2008. PMID: 18182642

4

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino V. Orrico A, et al. Among authors: orsi a. 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

5

New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge.

Zannolli R, Buoni S, de Santi M, Miracco C, Vonella G, Tassini M, Vivi A, Viviano M, Rossi T, Orsi A, Scarinci R, D'Ambrosio A, Livi W, Volterrani L, Fois A, Willems P, Hayek J. Zannolli R, et al. Among authors: orsi a. Brain Dev. 2008 Aug;30(7):461-8. doi: 10.1016/j.braindev.2007.12.008. Epub 2008 Jan 28. Brain Dev. 2008. PMID: 18226865

OBJECTIVE: Case study of a CNS impairment lacking in presumptive cause; case presents with a clinical phenotype encompassing multiple differently expressed and combined symptoms, as well as a subtle skin defect. ...Being all further test negative, the patient …

OBJECTIVE: Case study of a CNS impairment lacking in presumptive cause; case presents with a clinical phenotype encompassing m …

6

Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.

Zannolli R, Buoni S, Macucci F, Scarinci R, Viviano M, Orsi A, de Aloe G, Fimiani M, Volterrani L, de Santi MM, Miracco C, Zappella M, Hayek J. Zannolli R, et al. Among authors: orsi a. Brain Dev. 2007 Jul;29(6):373-6. doi: 10.1016/j.braindev.2006.11.004. Epub 2006 Dec 14. Brain Dev. 2007. PMID: 17174051

7

Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.

Buoni S, Zannolli R, Felice CD, Saponari S, Strambi M, Dotti MT, Castrucci E, Corbini L, Orsi A, Hayek J. Buoni S, et al. Among authors: orsi a. Clin Neurophysiol. 2008 Nov;119(11):2455-8. doi: 10.1016/j.clinph.2008.08.015. Epub 2008 Oct 7. Clin Neurophysiol. 2008. PMID: 18842453

8

Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects.

Buoni S, Zannolli R, de Santi M, Macucci F, Hayek J, Orsi A, Scarinci R, Buscalferri A, Cuccia A, Zappella M, Miracco C. Buoni S, et al. Among authors: orsi a. Eur J Neurol. 2006 Aug;13(8):842-51. doi: 10.1111/j.1468-1331.2006.01305.x. Eur J Neurol. 2006. PMID: 16879294

9

Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases.

Buoni S, Geronzi U, Orsi A, Hayek Y. Buoni S, et al. Among authors: orsi a. Epilepsy Behav Case Rep. 2015 Jun 30;4:38-40. doi: 10.1016/j.ebcr.2015.06.002. eCollection 2015. Epilepsy Behav Case Rep. 2015. PMID: 26236634 Free PMC article.

10

Myoclonic encephalopathy in the CDKL5 gene mutation.

Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J. Buoni S, et al. Among authors: orsi a. Clin Neurophysiol. 2006 Jan;117(1):223-7. doi: 10.1016/j.clinph.2005.09.008. Epub 2005 Dec 2. Clin Neurophysiol. 2006. PMID: 16326141

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