Giorgia Mandrile

Giorgia Mandrile

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Giorgia Mandrile

Giorgia Mandrile

Publications by authors named "Giorgia Mandrile"

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Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.

J Nephrol 2017 Apr 5;30(2):219-225. Epub 2016 Mar 5.

Department of Clinical and Biological Sciences, University of Torino, San Luigi University Hospital, Regione Gonzole 10, 10040, Orbassano, TO, Italy.

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http://dx.doi.org/10.1007/s40620-016-0287-4DOI Listing
April 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.

Cell Rep 2016 06 26;15(10):2292-2300. Epub 2016 May 26.

Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy; Department of Chemical, Materials and Industrial Engineering, Federico II University, 80125 Naples, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.05.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906368PMC
June 2016

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

Case Rep Genet 2014 23;2014:470830. Epub 2014 Nov 23.

Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy ; Medical Genetics, "Città della Salute e della Scienza" University Hospital, 10126 Torino, Italy.

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http://dx.doi.org/10.1155/2014/470830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259072PMC
December 2014

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.

Sci Rep 2014 Sep 25;4:6470. Epub 2014 Sep 25.

1] Medical Genetics, University of Torino, Dept. Clinical &Biological Sciences, Torino, Italy [2] Medical Genetics, San Luigi University Hospital, Orbassano, Italy.

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http://dx.doi.org/10.1038/srep06470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5377327PMC
September 2014

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.

Neurol Sci 2014 Aug 2;35(8):1303-5. Epub 2014 Mar 2.

Medical Genetics Unit, San Luigi Gonzaga University Hospital, Regione Gonzole 10, 10043, Orbassano, TO, Italy,

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http://dx.doi.org/10.1007/s10072-014-1696-6DOI Listing
August 2014

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

Eur J Med Genet 2013 Apr 26;56(4):216-21. Epub 2013 Jan 26.

Division of Medical Genetics, Galliera Hospital, Via Volta 6, 16128 Genova, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2013.01.005DOI Listing
April 2013

Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.

J Nephrol 2010 Nov-Dec;23(6):667-76

Department of Clinical and Biological Sciences, University of Turin, Regione Gonzole, Orbassano, Italy.

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January 2011

Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.

Hum Genet 2010 Apr;127(4):468

S. Luigi Gonzaga Hospital, Medical Genetics Unit, University of Torino, Orbassano (TO), Italy.

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April 2010