Emanuela Manfredini

Emanuela Manfredini

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Emanuela Manfredini

Emanuela Manfredini

Publications by authors named "Emanuela Manfredini"

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16Publications

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22q11.2 microduplication syndrome and juvenile glaucoma.

Ophthalmic Genet 2018 08 14;39(4):532-538. Epub 2018 Jun 14.

a Department of Ophthalmology, San Raffaele Scientific Institute , Vita-Salute University , Milan , Italy.

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http://dx.doi.org/10.1080/13816810.2018.1484926DOI Listing
August 2018

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

J Dermatol Sci 2016 Mar 28;81(3):208-9. Epub 2015 Nov 28.

Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2015.11.012DOI Listing
March 2016

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

Eur J Med Genet 2015 Feb 23;58(2):66-70. Epub 2014 Dec 23.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.005DOI Listing
February 2015

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

J Mol Neurosci 2014 Dec 10;54(4):723-9. Epub 2014 May 10.

Department of Laboratory Medicine, Medical Genetics Unit, Niguarda Ca' Granda Hospital, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-014-0311-xDOI Listing
December 2014

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

Gene 2014 Mar 18;537(1):79-84. Epub 2013 Dec 18.

Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.11.102DOI Listing
March 2014

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

Eur J Med Genet 2010 Jul-Aug;53(4):186-91. Epub 2010 Apr 11.

Laboratorio di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2010.04.002DOI Listing
October 2010