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Items: 23

1.

Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.

Franceschi R, Maines E, Fedrizzi M, Piemontese MR, De Bonis P, Agarwal N, Bellizzi M, Di Palma A.

Pediatr Int. 2015 Oct;57(5):1003-6. doi: 10.1111/ped.12692. Epub 2015 Aug 19.

PMID:
26286462
2.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F.

J Endocrinol Invest. 2016 Feb;39(2):227-33. doi: 10.1007/s40618-015-0334-3. Epub 2015 Jun 23.

PMID:
26100530
3.

Ehlers-Danlos syndrome versus cleidocranial dysplasia.

Bedeschi MF, Bonarrigo F, Manzoni F, Milani D, Piemontese MR, Guez S, Esposito S.

Ital J Pediatr. 2014 May 24;40:49. doi: 10.1186/1824-7288-40-49. No abstract available.

4.

Naevoid basal cell carcinoma syndrome in a 22-month-old child presenting with multiple basal cell carcinomas and a fetal rhabdomyoma.

Diociaiuti A, Inserra A, De Vega IF, Rota C, Surrenti T, Giraldi L, Piemontese MR, Giovannoni I, Callea F, El Hachem M.

Acta Derm Venereol. 2015 Feb;95(2):243-4. doi: 10.2340/00015555-1892. No abstract available.

5.

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A.

Am J Med Genet A. 2013 Nov;161A(11):2894-901. doi: 10.1002/ajmg.a.36259. Epub 2013 Oct 7.

PMID:
24124115
6.

An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.

Palumbo O, Palumbo P, Palladino T, Stallone R, Miroballo M, Piemontese MR, Zelante L, Carella M.

Am J Med Genet A. 2012 Dec;158A(12):3182-9. doi: 10.1002/ajmg.a.35631. Epub 2012 Nov 19.

PMID:
23166063
7.

Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.

Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, Beznoussenko GV, Mironov AA, Mironov A Jr, Zelante L, Piemontese MR, Notarangelo A, Malhotra V, Vertel BM, Wilson C, De Matteis MA.

Science. 2012 Sep 28;337(6102):1668-72.

8.

Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.

Marchisella C, Rolando F, Muscarella LA, Zelante L, Bracco P, Piemontese MR.

Eur J Orthod. 2011 Oct;33(5):498-502. doi: 10.1093/ejo/cjq107. Epub 2010 Dec 3.

PMID:
21131390
9.

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V.

Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13.

10.

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

Micale L, Augello B, Fusco C, Turturo MG, Granatiero M, Piemontese MR, Zelante L, Cecconi A, Merla G.

Genet Test Mol Biomarkers. 2009 Aug;13(4):527-31. doi: 10.1089/gtmb.2009.0030.

PMID:
19604113
11.

HOXA1 gene variants influence head growth rates in humans.

Muscarella LA, Guarnieri V, Sacco R, Militerni R, Bravaccio C, Trillo S, Schneider C, Melmed R, Elia M, Mascia ML, Rucci E, Piemontese MR, D'Agruma L, Persico AM.

Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):388-90.

PMID:
17171652
12.

Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.

Muscarella LA, Piemontese MR, Barbano R, Fazio A, Guarnieri V, Quattrone A, Zelante L.

Biomol Eng. 2007 Jun;24(2):231-6. Epub 2006 Nov 7.

PMID:
17145200
13.

Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.

Zelante L, Piemontese MR, Francioli G, Calvano S.

Ann Genet. 2003 Oct-Dec;46(4):479-81.

PMID:
14659786
14.

Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.

Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A.

J Clin Endocrinol Metab. 2002 Feb;87(2):898-905.

PMID:
11836339
15.

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B.

Int J Mol Med. 1999 Sep;4(3):285-90.

PMID:
10425280
16.

Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.

Melchionda S, Seri M, Carella M, Piemontese MR, Zhang XX, Zelante L, Romeo G, Gasparini P.

Eur J Hum Genet. 1998 Jul-Aug;6(4):345-9.

17.

Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.

Bisceglia L, d'Ambrosio L, Piemontese MR, Carella M, Amati P, Bonneau D, Pilia G, Gasparini P, Zelante L.

Mol Cell Probes. 1998 Aug;12(4):255-8. No abstract available.

PMID:
9727204
18.

Detection of dystrophin deletion carriers using FISH analysis.

Calvano S, Memeo E, Piemontese MR, Melchionda S, Bisceglia L, Gasparini P, Zelante L.

Clin Genet. 1997 Jul;52(1):17-22.

PMID:
9272708
19.

A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.

Piemontese MR, Memeo E, Carella M, Amati P, Chomel JC, Bonneau D, Pilia G, Cao A, Drabkin H, Gemmill R, Rommens J, Zelante L, Gasparini P, Bisceglia L.

Eur J Hum Genet. 1997 May-Jun;5(3):171-4.

PMID:
9272742
20.

Two newborns with chromosome 4 imbalances: deletion 4q33-->q35 and ring r(4)(pterq35.2-qter).

Calabrese G, Giannotti A, Mingarelli R, Di Gilio MC, Piemontese MR, Palka G.

Clin Genet. 1997 Apr;51(4):264-7.

PMID:
9184250
21.

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.

Savoia A, Piemontese MR, Savino M, Zatterale A, Pronk J, Arwert F, Joenje H, Ramenghi U, Dagna-Bricarelli F, Dallapiccola B, Zelante L.

Hum Genet. 1997 Jan;99(1):93-7.

PMID:
9003502
22.

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

Grifa A, Piemontese MR, Melchionda S, Origone P, Zelante L, Coviello D, Fratta G, Dallapiccola B, Balestrazzi P, Ajmar F, et al.

Clin Genet. 1995 Jun;47(6):281-4.

PMID:
7554359
23.

Cytogenetic and molecular analysis of trisomy 9. Case report and review.

Zelante L, Notarangelo A, Croce AI, Piemontese MR, Gasparini P.

Ann Genet. 1994;37(1):21-5.

PMID:
8010708

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