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Results: 1 to 20 of 61

1.

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.

Eur J Hum Genet. 2015 Mar 18. doi: 10.1038/ejhg.2015.52. [Epub ahead of print]

PMID:
25782674
2.

Distinct neurological disorders with ATP1A3 mutations.

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group.

Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Review.

PMID:
24739246
3.

Encomium: Giovanni Neri--polyhedral and down-to-earth mentor.

Genuardi M, Gurrieri F, Zollino M.

Am J Med Genet A. 2013 Nov;161A(11):2687-90. doi: 10.1002/ajmg.a.36261. Epub 2013 Oct 3. No abstract available.

PMID:
24123703
4.

Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.

Gurrieri F, Everman DB.

Am J Med Genet A. 2013 Nov;161A(11):2860-72. doi: 10.1002/ajmg.a.36239. Epub 2013 Sep 24. Review.

PMID:
24115638
5.

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

Gurrieri F, Zollino M, Oliva A, Pascali V, Orteschi D, Pietrobono R, Camporeale A, Coll Vidal M, Partemi S, Brugada R, Bellocci F, Neri G.

Eur J Hum Genet. 2013 Sep;21(9):965-9. doi: 10.1038/ejhg.2012.280. Epub 2013 Mar 20.

6.

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N.

Hum Mol Genet. 2012 Nov 15;21(22):4930-8. doi: 10.1093/hmg/dds336. Epub 2012 Aug 21.

7.

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE.

Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15.

8.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB.

Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

9.

Working up autism: the practical role of medical genetics.

Gurrieri F.

Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):104-10. doi: 10.1002/ajmg.c.31326. Epub 2012 Apr 12.

PMID:
22499531
10.

Coding exons function as tissue-specific enhancers of nearby genes.

Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N.

Genome Res. 2012 Jun;22(6):1059-68. doi: 10.1101/gr.133546.111. Epub 2012 Mar 22.

11.

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

Gurrieri F, Pomponi MG, Pietrobono R, Lucci-Cordisco E, Silvestri E, Storniello G, Neri G.

Am J Med Genet A. 2011 Jan;155A(1):145-8. doi: 10.1002/ajmg.a.33586. Epub 2010 Dec 9.

PMID:
21204223
12.

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome.

Zollino M, Gurrieri F, Orteschi D, Marangi G, Leuzzi V, Neri G.

Eur J Hum Genet. 2011 Feb;19(2):239-42. doi: 10.1038/ejhg.2010.172. Epub 2010 Dec 1.

13.

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

Satterfield BC, Garcia RA, Gurrieri F, Schwartz CE.

Mol Autism. 2010 Oct 14;1(1):14. doi: 10.1186/2040-2392-1-14.

14.

Defective oxytocin function: a clue to understanding the cause of autism?

Gurrieri F, Neri G.

BMC Med. 2009 Oct 22;7:63. doi: 10.1186/1741-7015-7-63.

15.

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE.

Autism Res. 2009 Aug;2(4):232-6. doi: 10.1002/aur.87.

PMID:
19681062
16.

Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders.

Castagnola M, Messana I, Inzitari R, Fanali C, Cabras T, Morelli A, Pecoraro AM, Neri G, Torrioli MG, Gurrieri F.

J Proteome Res. 2008 Dec;7(12):5327-32. doi: 10.1021/pr8004088.

PMID:
19367726
17.

Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes.

Gurrieri F, Accadia M.

Endocr Dev. 2009;14:20-8. doi: 10.1159/000207473. Epub 2009 Feb 27. Review.

PMID:
19293572
18.

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G.

Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Review.

PMID:
19215041
19.

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

Biesecker LG, Aase JM, Clericuzio C, Gurrieri F, Temple IK, Toriello H.

Am J Med Genet A. 2009 Jan;149A(1):93-127. doi: 10.1002/ajmg.a.32596.

20.

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Giustina ED, Amarri S, Banchini G, Dobyns WB, Neri G.

Neuropediatrics. 2007 Aug;38(4):200-3.

PMID:
18058629
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