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Items: 22

1.

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

Prontera P, Rogaia D, Sallicandro E, Mencarelli A, Imperatore V, Squeo GM, Merla G, Elisei S, Moretti-Ferreira D, Esposito S, Stangoni G.

Eur J Hum Genet. 2019 Aug;27(8):1260-1266. doi: 10.1038/s41431-019-0385-6. Epub 2019 Apr 1.

PMID:
30936464
2.

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.

Mencarelli A, Prontera P, Mencarelli A, Rogaia D, Stangoni G, Cecconi M, Esposito S.

Int J Mol Sci. 2018 Oct 16;19(10). pii: E3189. doi: 10.3390/ijms19103189.

3.

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250.

PMID:
28938448
4.

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Prontera P, Rogaia D, Mencarelli A, Ottaviani V, Sallicandro E, Guercini G, Esposito S, Bersano A, Merla G, Stangoni G.

Int J Mol Sci. 2017 Sep 17;18(9). pii: E1998. doi: 10.3390/ijms18091998. Review.

5.

A novel MED12 mutation: Evidence for a fourth phenotype.

Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G.

Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Review.

PMID:
27312080
6.

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.

Prontera P, Ottaviani V, Toccaceli D, Rogaia D, Ardisia C, Romani R, Stangoni G, Pierini A, Donti E.

Am J Med Genet A. 2014 Dec;164A(12):3137-41. doi: 10.1002/ajmg.a.36741. Epub 2014 Sep 24.

PMID:
25257502
7.

DPP6 gene disruption in a family with Gilles de la Tourette syndrome.

Prontera P, Napolioni V, Ottaviani V, Rogaia D, Fusco C, Augello B, Serino D, Parisi V, Bernardini L, Merla G, Cavanna AE, Donti E.

Neurogenetics. 2014 Oct;15(4):237-42. doi: 10.1007/s10048-014-0418-9. Epub 2014 Aug 17.

PMID:
25129042
8.

Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?

Prontera P, Bartocci A, Ottaviani V, Isidori I, Rogaia D, Ardisia C, Guercini G, Mencarelli A, Donti E.

Mol Syndromol. 2013 Apr;4(4):197-202. doi: 10.1159/000350040. Epub 2013 Apr 11.

9.

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR.

Am J Med Genet A. 2012 Sep;158A(9):2091-9. doi: 10.1002/ajmg.a.35446. Epub 2012 Jul 20.

PMID:
22821852
10.

Deletion 2p15-16.1 syndrome: case report and review.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Romani R, Ardisia C, Dallapiccola B, Donti E.

Am J Med Genet A. 2011 Oct;155A(10):2473-8. doi: 10.1002/ajmg.a.33875. Epub 2011 Sep 9. Review.

PMID:
21910216
11.

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.

Prontera P, Rogaia D, Sobacchi C, Tavares VL, Mazzotta G, Passos-Bueno MR, Donti E.

Am J Med Genet A. 2011 May;155A(5):1106-8. doi: 10.1002/ajmg.a.33826. Epub 2011 Apr 4.

PMID:
21465646
12.

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Prontera P, Stangoni G, Ardisia C, Rogaia D, Mencarelli A, Donti E.

Am J Med Genet A. 2011 Apr;155A(4):928-30. doi: 10.1002/ajmg.a.33817. Epub 2011 Mar 17. No abstract available.

PMID:
21416586
13.

Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q).

Prontera P, Buldrini B, Aiello V, Rogaia D, Mencarelli A, Gruppioni R, Bonfatti A, Beltrami N, Donti E, Sensi A.

Genet Couns. 2010;21(1):91-7.

PMID:
20420035
14.

2q31.2q32.3 deletion syndrome: report of an adult patient.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E.

Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688.

PMID:
19248183
15.

A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications.

Prontera P, Ferrando B, Giuliani V, Falcinelli F, Mencarelli A, Rogaia D, Pasini B, Donti E.

Genet Couns. 2008;19(4):413-8.

PMID:
19239085
16.

Effectiveness of donor natural killer cell alloreactivity in mismatched hematopoietic transplants.

Ruggeri L, Capanni M, Urbani E, Perruccio K, Shlomchik WD, Tosti A, Posati S, Rogaia D, Frassoni F, Aversa F, Martelli MF, Velardi A.

Science. 2002 Mar 15;295(5562):2097-100.

17.

Formation of PML/RAR alpha high molecular weight nuclear complexes through the PML coiled-coil region is essential for the PML/RAR alpha-mediated retinoic acid response.

Grignani F, Gelmetti V, Fanelli M, Rogaia D, De Matteis S, Ferrara FF, Bonci D, Grignani F, Nervi C, Pelicci PG.

Oncogene. 1999 Nov 4;18(46):6313-21.

18.

Terminal megakaryocytic differentiation of TF-1 cells is induced by phorbol esters and thrombopoietin and is blocked by expression of PML/RARalpha fusion protein.

Testa U, Grignani F, Hassan HJ, Rogaia D, Masciulli R, Gelmetti V, Guerriero R, Macioce G, Liberatore C, Barberi T, Mariani G, Pelicci PG, Peschle C.

Leukemia. 1998 Apr;12(4):563-70.

PMID:
9557615
19.

The localization of the HRX/ALL1 protein to specific nuclear subdomains is altered by fusion with its eps15 translocation partner.

Rogaia D, Grignani F, Carbone R, Riganelli D, LoCoco F, Nakamura T, Croce CM, Di Fiore PP, Pelicci PG.

Cancer Res. 1997 Mar 1;57(5):799-802.

20.

Effects on differentiation by the promyelocytic leukemia PML/RARalpha protein depend on the fusion of the PML protein dimerization and RARalpha DNA binding domains.

Grignani F, Testa U, Rogaia D, Ferrucci PF, Samoggia P, Pinto A, Aldinucci D, Gelmetti V, Fagioli M, Alcalay M, Seeler J, Grignani F, Nicoletti I, Peschle C, Pelicci PG.

EMBO J. 1996 Sep 16;15(18):4949-58.

22.

Acute promyelocytic leukaemia cells resistant to retinoic acid show further perturbation of the RAR alpha signal transduction system.

Dermime S, Grignani F, Rogaia D, Liberatore C, Marchesi E, Gambacorti-Passerini C.

Leuk Lymphoma. 1995 Jan;16(3-4):289-95.

PMID:
7719237

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