Manfredini E - Search Results

1

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

2

Association between idiopathic premature ovarian failure and fragile X premutation.

Marozzi A, Vegetti W, Manfredini E, Tibiletti MG, Testa G, Crosignani PG, Ginelli E, Meneveri R, Dalprà L. Marozzi A, et al. Among authors: manfredini e. Hum Reprod. 2000 Jan;15(1):197-202. doi: 10.1093/humrep/15.1.197. Hum Reprod. 2000. PMID: 10611212

3

Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.

Marozzi A, Manfredini E, Tibiletti MG, Furlan D, Villa N, Vegetti W, Crosignani PG, Ginelli E, Meneveri R, Dalprà L. Marozzi A, et al. Among authors: manfredini e. Hum Genet. 2000 Oct;107(4):304-11. doi: 10.1007/s004390000364. Hum Genet. 2000. PMID: 11129329

4

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.

5

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: manfredini e. 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

6

Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits.

Recalcati MP, Valtorta E, Romitti L, Giardino D, Manfredini E, Vaccari R, Larizza L, Finelli P. Recalcati MP, et al. Among authors: manfredini e. Eur J Med Genet. 2010 Jul-Aug;53(4):186-91. doi: 10.1016/j.ejmg.2010.04.002. Epub 2010 Apr 11. Eur J Med Genet. 2010. PMID: 20388564

7

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

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: manfredini e. 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

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

53 results

Search Page

Filters