Zambruno G - Search Results

1

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.

Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A. Didona B, et al. Among authors: zambruno g. J Hum Genet. 2007;52(10):865-870. doi: 10.1007/s10038-007-0180-z. J Hum Genet. 2007. PMID: 17902024 Free PMC article.

2

Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite.

Roversi G, Beghini A, Zambruno G, Paradisi M, Larizza L. Roversi G, et al. Among authors: zambruno g. J Hum Genet. 2003;48(2):107-9. doi: 10.1007/s100380300016. J Hum Genet. 2003. PMID: 12601557

3

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L. Colombo EA, et al. Among authors: zambruno g. Eur J Hum Genet. 2014 Nov;22(11):1298-304. doi: 10.1038/ejhg.2014.18. Epub 2014 Feb 12. Eur J Hum Genet. 2014. PMID: 24518840 Free PMC article.

4

Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.

Terrinoni A, Cocuroccia B, Gubinelli E, Zambruno G, Candi E, Melino G, Girolomoni G. Terrinoni A, et al. Among authors: zambruno g. Eur J Dermatol. 2004 Nov-Dec;14(6):375-8. Eur J Dermatol. 2004. PMID: 15564199

5

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.

Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M, Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E. Terrinoni A, et al. Among authors: zambruno g. Cell Death Dis. 2012 Oct 25;3(10):e416. doi: 10.1038/cddis.2012.152. Cell Death Dis. 2012. PMID: 23096117 Free PMC article.

6

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

Has C, Wessagowit V, Pascucci M, Baer C, Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton GH, Tadini G, Zambruno G, Bruckner-Tuderman L, McGrath JA, Castiglia D. Has C, et al. Among authors: zambruno g. J Invest Dermatol. 2006 Aug;126(8):1776-83. doi: 10.1038/sj.jid.5700339. Epub 2006 May 4. J Invest Dermatol. 2006. PMID: 16675959 Free article.

7

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.

Posteraro P, Pascucci M, Colombi M, Barlati S, Giannetti A, Paradisi M, Mustonen A, Zambruno G, Castiglia D. Posteraro P, et al. Among authors: zambruno g. Biochem Biophys Res Commun. 2005 Dec 23;338(3):1391-401. doi: 10.1016/j.bbrc.2005.10.097. Epub 2005 Oct 26. Biochem Biophys Res Commun. 2005. PMID: 16271705

8

Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans.

Castori M, Covaciu C, Paradisi M, Zambruno G. Castori M, et al. Among authors: zambruno g. Eur J Med Genet. 2009 Jan-Feb;52(1):53-8. doi: 10.1016/j.ejmg.2008.09.005. Epub 2008 Oct 17. Eur J Med Genet. 2009. PMID: 18984066

9

A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus.

Terrinoni A, Candi E, Oddi S, Gobello T, Camaione DB, Mazzanti C, Zambruno G, Knight R, Melino G. Terrinoni A, et al. Among authors: zambruno g. J Invest Dermatol. 2000 Feb;114(2):388-91. doi: 10.1046/j.1523-1747.2000.00890.x. J Invest Dermatol. 2000. PMID: 10652003 Free article.

10

Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.

Guerra L, Fortugno P, Pedicelli C, Mazzanti C, Proto V, Zambruno G, Castiglia D. Guerra L, et al. Among authors: zambruno g. Acta Derm Venereol. 2015 Jul;95(6):720-4. doi: 10.2340/00015555-2075. Acta Derm Venereol. 2015. PMID: 25710899 Free article.

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