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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S. Wissinger B, et al. Among authors: manfredini e. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27. Proc Natl Acad Sci U S A. 2022. PMID: 35759666 Free PMC article.
Premature ovarian failure.
Vegetti W, Marozzi A, Manfredini E, Testa G, Alagna F, Nicolosi A, Caliari I, Taborelli M, Tibiletti MG, Dalprà L, Crosignani PG. Vegetti W, et al. Among authors: manfredini e. Mol Cell Endocrinol. 2000 Mar 30;161(1-2):53-7. doi: 10.1016/s0303-7207(99)00224-5. Mol Cell Endocrinol. 2000. PMID: 10773392
Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.
Villa N, Redaelli S, Sala E, Conconi D, Romitti L, Manfredini E, Crosti F, Roversi G, Lavitrano M, Rodeschini O, Recalcati MP, Piazza R, Dalprà L, Riva P, Bentivegna A. Villa N, et al. Among authors: manfredini e. Int J Mol Sci. 2021 May 26;22(11):5637. doi: 10.3390/ijms22115637. Int J Mol Sci. 2021. PMID: 34073228 Free PMC article.
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: manfredini e. 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
22q11.2 microduplication syndrome and juvenile glaucoma.
Di Matteo F, Bettin P, Ferrari G, Fiori M, Ciampi C, Manfredini E, Rabiolo A, Bandello F. Di Matteo F, et al. Among authors: manfredini e. Ophthalmic Genet. 2018 Aug;39(4):532-538. doi: 10.1080/13816810.2018.1484926. Epub 2018 Jun 14. Ophthalmic Genet. 2018. PMID: 29902089
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: manfredini e. 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
49 results