Penco S - Search Results

1

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P. Rimoldi V, et al. Among authors: penco s. Gene. 2014 Mar 1;537(1):79-84. doi: 10.1016/j.gene.2013.11.102. Epub 2013 Dec 18. Gene. 2014. PMID: 24361966

2

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC. Mauri L, et al. Among authors: penco s. Gene. 2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3. Gene. 2014. PMID: 24096233

3

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Straniero L, Rimoldi V, Soldà G, Mauri L, Manfredini E, Andreucci E, Bargiacchi S, Penco S, Gesu GP, Del Longo A, Piozzi E, Asselta R, Primignani P. Straniero L, et al. Among authors: penco s. J Hum Genet. 2015 Sep;60(9):467-71. doi: 10.1038/jhg.2015.56. Epub 2015 May 28. J Hum Genet. 2015. PMID: 26016411

4

Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.

Mosca L, Rivieri F, Tanel R, Bonfante A, Burlina A, Manfredini E, Primignani P, Gesu GP, Marocchi A, Penco S. Mosca L, et al. Among authors: penco s. J Mol Neurosci. 2014 Dec;54(4):723-9. doi: 10.1007/s12031-014-0311-x. Epub 2014 May 10. J Mol Neurosci. 2014. PMID: 24816653

5

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso MC, Piozzi E, Del Longo A, Gesu GP, Manfredini E, Primignani P, Damante G, Penco S. Mauri L, et al. Among authors: penco s. Eur J Med Genet. 2015 Feb;58(2):66-70. doi: 10.1016/j.ejmg.2014.12.005. Epub 2014 Dec 23. Eur J Med Genet. 2015. PMID: 25542770

6

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

Veniani E, Mauri L, Manfredini E, Gesu GP, Patrosso MC, Zelante L, D'Agruma L, Del Longo A, Mazza M, Piozzi E, Penco S, Primignani P. Veniani E, et al. Among authors: penco s. J Dermatol Sci. 2016 Mar;81(3):208-9. doi: 10.1016/j.jdermsci.2015.11.012. Epub 2015 Nov 28. J Dermatol Sci. 2016. PMID: 26686029 No abstract available.

7

Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.

Primignani P, Allegrini D, Manfredini E, Romitti L, Mauri L, Patrosso MC, Veniani E, Franzoni A, Del Longo A, Gesu GP, Piozzi E, Damante G, Penco S. Primignani P, et al. Among authors: penco s. Ophthalmic Genet. 2016 Sep;37(3):307-13. doi: 10.3109/13816810.2015.1059459. Epub 2016 Feb 5. Ophthalmic Genet. 2016. PMID: 26849621

8

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Mauri L, Manfredini E, Del Longo A, Veniani E, Scarcello M, Terrana R, Radaelli AE, Calò D, Mingoia G, Rossetti A, Marsico G, Mazza M, Gesu GP, Cristina Patrosso M, Penco S, Piozzi E, Primignani P. Mauri L, et al. Among authors: penco s. J Hum Genet. 2017 Feb;62(2):277-290. doi: 10.1038/jhg.2016.123. Epub 2016 Oct 13. J Hum Genet. 2017. PMID: 27734839

9

Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma.

Pasutto F, Mauri L, Popp B, Sticht H, Ekici A, Piozzi E, Bonfante A, Penco S, Schlötzer-Schrehardt U, Reis A. Pasutto F, et al. Among authors: penco s. Gene. 2015 Aug 15;568(1):76-80. doi: 10.1016/j.gene.2015.05.015. Epub 2015 May 9. Gene. 2015. PMID: 25967385

10

A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.

Cigoli MS, De Benedetti S, Marocchi A, Bacigaluppi S, Primignani P, Gesu G, Citterio A, Tassi L, Mecarelli O, Pulitano P, Penco S. Cigoli MS, et al. Among authors: penco s. J Mol Neurosci. 2015 Jul;56(3):602-7. doi: 10.1007/s12031-015-0555-0. Epub 2015 Apr 14. J Mol Neurosci. 2015. PMID: 25869611

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