Romano C - Search Results

1

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.

Chiavetta V, Romano C, Calì F, Ruggeri G, Siragusa M, Greco D, Romano V, Schepis C. Chiavetta V, et al. Among authors: romano c, romano v. G Ital Dermatol Venereol. 2016 Oct;151(5):582-5. G Ital Dermatol Venereol. 2016. PMID: 27595213 No abstract available.

2

An updated survey on skin conditions in Down syndrome.

Schepis C, Barone C, Siragusa M, Pettinato R, Romano C. Schepis C, et al. Among authors: romano c. Dermatology. 2002;205(3):234-8. doi: 10.1159/000065859. Dermatology. 2002. PMID: 12399669

3

Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.

Falco M, Romano C, Alberti A, Greco D, Scuderi C, Avola E, Failla P, Belli S, Tolmie JL, Amata S, Fichera M. Falco M, et al. Among authors: romano c. Clin Chem. 2005 Dec;51(12):2356-8. doi: 10.1373/clinchem.2005.056036. Clin Chem. 2005. PMID: 16306095 No abstract available.

4

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome.

Schepis C, Greco D, Siragusa M, Romano C. Schepis C, et al. Among authors: romano c. Int J Dermatol. 2008 Apr;47(4):374-6. doi: 10.1111/j.1365-4632.2008.03440.x. Int J Dermatol. 2008. PMID: 18377602 No abstract available.

5

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.

Salemi M, Romano C, Barone C, Calí F, Caraci F, Romano C, Scavuzzo C, Scillato F, Salluzzo MG, Piccione M, Martines M, Corsello G, Nicoletti F, Bosco P. Salemi M, et al. Among authors: romano c. J Genet. 2009 Apr;88(1):93-7. doi: 10.1007/s12041-009-0013-2. J Genet. 2009. PMID: 19417550 Free article. No abstract available.

6

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. Marangi G, et al. Among authors: romano c. Am J Med Genet A. 2011 Jul;155A(7):1536-45. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671391

7

PTEN gene: a model for genetic diseases in dermatology.

Romano C, Schepis C. Romano C, et al. ScientificWorldJournal. 2012;2012:252457. doi: 10.1100/2012/252457. Epub 2012 Apr 30. ScientificWorldJournal. 2012. PMID: 22623890 Free PMC article.

8

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.

Grillo L, Greco D, Pettinato R, Avola E, Potenza N, Castiglia L, Spalletta A, Amata S, Di Benedetto D, Luciano D, Romano C, Fichera M. Grillo L, et al. Among authors: romano c. Gene. 2014 Jan 25;534(2):435-9. doi: 10.1016/j.gene.2013.09.120. Epub 2013 Oct 8. Gene. 2014. PMID: 24120895

9

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.

Città S, Buono S, Greco D, Barone C, Alfei E, Bulgheroni S, Usilla A, Pantaleoni C, Romano C. Città S, et al. Among authors: romano c. Am J Med Genet A. 2013 Dec;161A(12):3018-22. doi: 10.1002/ajmg.a.36142. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214349

10

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V. Calì F, et al. Among authors: romano c, romano v. Eur J Med Genet. 2017 Feb;60(2):93-99. doi: 10.1016/j.ejmg.2016.11.001. Epub 2016 Nov 9. Eur J Med Genet. 2017. PMID: 27838393

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