Publications by authors named "Francesco Benedicenti"

28Publications

Metastatic cylindrocarcinoma in Brooke-Spiegler Syndrome - Report of a case and review of the literature.

J Dtsch Dermatol Ges 2020 Aug 24. Epub 2020 Aug 24.

Department of Dermatology, Venereology and Allergology, Academic Teaching Department of Medical University Innsbruck, Central Hospital Bolzano/Bozen, Italy.

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http://dx.doi.org/10.1111/ddg.14227DOI Listing
August 2020

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.

J Hum Genet 2020 Oct 28;65(10):855-864. Epub 2020 May 28.

Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1038/s10038-020-0783-1DOI Listing
October 2020

"Spot diagnosis" or "spot the diagnosis"?

J Neurol Sci 2017 08 30;379:335-336. Epub 2017 May 30.

Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Viale Europa, 31, 39100 Bolzano, Italy.

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http://dx.doi.org/10.1016/j.jns.2017.05.063DOI Listing
August 2017

The multiple faces of artwork diagnoses.

Lancet Neurol 2017 06;16(6):417

Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/S1474-4422(17)30128-XDOI Listing
June 2017

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

Invest Ophthalmol Vis Sci 2017 02;58(2):821-832

Center for Ophthalmology, University of Tübingen, Tübingen, Germany 7Werner Reichardt Center for Integrative Neuroscience, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1167/iovs.16-20427DOI Listing
February 2017

Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes.

Case Rep Genet 2013 16;2013:306098. Epub 2013 May 16.

Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, Italy.

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http://dx.doi.org/10.1155/2013/306098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670532PMC
June 2013

A revised diagnosis of oculo-auriculovertebral spectrum.

J Indian Med Assoc 2010 Mar;108(3):183

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March 2010

Interesting suggestions about Yq deletions.

Fertil Steril 2009 Jan 9;91(1):300-1. Epub 2008 Aug 9.

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http://linkinghub.elsevier.com/retrieve/pii/S001502820801177
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http://dx.doi.org/10.1016/j.fertnstert.2008.05.064DOI Listing
January 2009