Gasparini P - Search Results

1

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Athanasakis E, et al. Among authors: gasparini p. Am J Med Genet A. 2014 Jan;164A(1):170-6. doi: 10.1002/ajmg.a.36274. Epub 2013 Dec 4. Am J Med Genet A. 2014. PMID: 24307393

2

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.

Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini P, Nigro V. Piluso G, et al. Among authors: gasparini p. Hum Genet. 2003 Feb;112(2):124-30. doi: 10.1007/s00439-002-0863-7. Epub 2002 Nov 13. Hum Genet. 2003. PMID: 12522552

3

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A. Coppola G, et al. Among authors: gasparini p. J Neurol. 2005 Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742102

4

Detection of epidermal thickening in GJB2 carriers with epidermal US.

Guastalla P, Guerci VI, Fabretto A, Faletra F, Grasso DL, Zocconi E, Stefanidou D, D'Adamo P, Ronfani L, Montico M, Morgutti M, Gasparini P. Guastalla P, et al. Among authors: gasparini p. Radiology. 2009 Apr;251(1):280-6. doi: 10.1148/radiol.2511080912. Epub 2009 Feb 3. Radiology. 2009. PMID: 19190252

5

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.

Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P. Fabretto A, et al. Among authors: gasparini p. Ophthalmic Genet. 2010 Jun;31(2):98-100. doi: 10.3109/13816811003620517. Ophthalmic Genet. 2010. PMID: 20450314

6

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

Fabretto A, Kutsche K, Harmsen MB, Demarini S, Gasparini P, Fertz MC, Zenker M. Fabretto A, et al. Among authors: gasparini p. Eur J Med Genet. 2010 Sep-Oct;53(5):322-4. doi: 10.1016/j.ejmg.2010.07.011. Epub 2010 Jul 29. Eur J Med Genet. 2010. PMID: 20673819

7

Insights into the binding of Phenyltiocarbamide (PTC) agonist to its target human TAS2R38 bitter receptor.

Biarnés X, Marchiori A, Giorgetti A, Lanzara C, Gasparini P, Carloni P, Born S, Brockhoff A, Behrens M, Meyerhof W. Biarnés X, et al. Among authors: gasparini p. PLoS One. 2010 Aug 25;5(8):e12394. doi: 10.1371/journal.pone.0012394. PLoS One. 2010. PMID: 20811630 Free PMC article.

8

A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.

Crovella S, Segat L, Amato A, Athanasakis E, Bezzerri V, Braggion C, Casciaro R, Castaldo G, Colombo C, Covone AE, De Rose V, Gagliardini R, Lanzara C, Minicucci L, Morgutti M, Nicolis E, Pardo F, Quattrucci S, Raia V, Ravazzolo R, Seia M, Stanzial V, Termini L, Zazzeron L, Cabrini G, Gasparini P. Crovella S, et al. Among authors: gasparini p. Clin Chem Lab Med. 2011 Jan;49(1):49-54. doi: 10.1515/CCLM.2011.023. Epub 2010 Nov 16. Clin Chem Lab Med. 2011. PMID: 21077791

9

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.

Faletra F, Devescovi R, Pecile V, Fabretto A, Carrozzi M, Gasparini P. Faletra F, et al. Among authors: gasparini p. J Appl Genet. 2011 Feb;52(1):77-80. doi: 10.1007/s13353-010-0004-2. Epub 2010 Nov 3. J Appl Genet. 2011. PMID: 21107783 No abstract available.

10

Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.

Sorice R, Bione S, Sansanelli S, Ulivi S, Athanasakis E, Lanzara C, Nutile T, Sala C, Camaschella C, D'Adamo P, Gasparini P, Ciullo M, Toniolo D. Sorice R, et al. Among authors: gasparini p. Eur J Hum Genet. 2011 May;19(5):593-6. doi: 10.1038/ejhg.2010.240. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248747 Free PMC article.

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