Mauri L - Search Results

1

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, Patrosso M, Weinreb RN, Penco S, Reis A, Pasutto F. Mauri L, et al. Orphanet J Rare Dis. 2016 Aug 2;11(1):108. doi: 10.1186/s13023-016-0495-y. Orphanet J Rare Dis. 2016. PMID: 27484908 Free PMC article.

2

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: mauri l. Gene. 2015 Aug 15;568(1):76-80. doi: 10.1016/j.gene.2015.05.015. Epub 2015 May 9. Gene. 2015. PMID: 25967385

3

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: mauri l. Ophthalmic Genet. 2016 Sep;37(3):307-13. doi: 10.3109/13816810.2015.1059459. Epub 2016 Feb 5. Ophthalmic Genet. 2016. PMID: 26849621

4

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE. Siggs OM, et al. Among authors: mauri l. JAMA Ophthalmol. 2019 Apr 1;137(4):348-355. doi: 10.1001/jamaophthalmol.2018.5646. JAMA Ophthalmol. 2019. PMID: 30653210 Free PMC article.

5

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. Gene. 2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3. Gene. 2014. PMID: 24096233

6

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. 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

7

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: mauri l. Gene. 2014 Mar 1;537(1):79-84. doi: 10.1016/j.gene.2013.11.102. Epub 2013 Dec 18. Gene. 2014. PMID: 24361966

8

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: mauri l. 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

9

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. 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

10

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: mauri l. 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.

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