Gurrieri F - Search Results

1

Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders.

Lintas C, Cassano I, Azzarà A, Stigliano MG, Gregorj C, Sacco R, Stoccoro A, Coppedè F, Gurrieri F. Lintas C, et al. Among authors: gurrieri f. Genes (Basel). 2023 Feb 25;14(3):585. doi: 10.3390/genes14030585. Genes (Basel). 2023. PMID: 36980856 Free PMC article.

2

A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.

Milillo A, La Carpia F, Costanzi S, D'Urbano V, Martini M, Lanuti P, Vischini G, Larocca LM, Marchisio M, Miscia S, Amoroso A, Gurrieri F, Sangiorgi E. Milillo A, et al. Among authors: gurrieri f. Eur J Hum Genet. 2015 Dec;23(12):1673-8. doi: 10.1038/ejhg.2015.52. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782674 Free PMC article.

3

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

Gurrieri F, Scarano G, Garavelli L, Della Monica M, Lonardo F, Cuda D, Banchini G, Opitz JM, Neri G. Gurrieri F, et al. Am J Med Genet A. 2004 Apr 15;126A(2):204-7. doi: 10.1002/ajmg.a.20575. Am J Med Genet A. 2004. PMID: 15057987

4

Elements of morphology: standard terminology for the hands and feet.

Biesecker LG, Aase JM, Clericuzio C, Gurrieri F, Temple IK, Toriello H. Biesecker LG, et al. Among authors: gurrieri f. Am J Med Genet A. 2009 Jan;149A(1):93-127. doi: 10.1002/ajmg.a.32596. Am J Med Genet A. 2009. PMID: 19125433 Free PMC article.

5

PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism.

Satterfield BC, Garcia RA, Gurrieri F, Schwartz CE. Satterfield BC, et al. Among authors: gurrieri f. Mol Autism. 2010 Oct 14;1(1):14. doi: 10.1186/2040-2392-1-14. Mol Autism. 2010. PMID: 20946639 Free PMC article.

6

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

Gurrieri F, Cavaliere ML, Wischmeijer A, Mammì C, Neri G, Pisanti MA, Rodella G, Laganà C, Priolo M. Gurrieri F, et al. Eur J Med Genet. 2015 Sep;58(9):488-91. doi: 10.1016/j.ejmg.2015.06.009. Epub 2015 Jul 17. Eur J Med Genet. 2015. PMID: 26193383

7

Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome.

Battaglia A, Gurrieri F. Battaglia A, et al. Among authors: gurrieri f. Am J Med Genet. 1999 Jan 1;82(1):100. doi: 10.1002/(sici)1096-8628(19990101)82:1<100::aid-ajmg23>3.0.co;2-f. Am J Med Genet. 1999. PMID: 9916855 No abstract available.

8

Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.

Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F, de Mollerat X, Fischetto R, Causio F, Clarkson K, Stevenson RE, Schwartz CE. Tackels-Horne D, et al. Among authors: gurrieri f. Clin Genet. 2001 Jan;59(1):28-36. doi: 10.1034/j.1399-0004.2001.590105.x. Clin Genet. 2001. PMID: 11168022

9

Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1.

Genuardi M, Gurrieri F, Neri G. Genuardi M, et al. Among authors: gurrieri f. Am J Med Genet. 1994 Mar 1;50(1):101. doi: 10.1002/ajmg.1320500125. Am J Med Genet. 1994. PMID: 8160746 No abstract available.

10

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.

Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S, Pomponi MG, Mazzei A, Neri G, Andria G, Brahe C. Sebastio G, et al. Among authors: gurrieri f. Am J Med Genet. 1996 May 17;63(2):366-72. doi: 10.1002/(SICI)1096-8628(19960517)63:2<366::AID-AJMG8>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8725787

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