Maria Luisa Giovannucci Uzielli

Maria Luisa Giovannucci Uzielli

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Maria Luisa Giovannucci Uzielli

Maria Luisa Giovannucci Uzielli

Publications by authors named "Maria Luisa Giovannucci Uzielli"

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Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Am J Med Genet A 2012 Apr 14;158A(4):917-21. Epub 2012 Mar 14.

Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Università di Bologna, Policlinico Sant'Orsola Malpighi, U.O. Genetica Medica, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35265DOI Listing
April 2012

Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.

Eur J Med Genet 2012 Feb 2;55(2):112-6. Epub 2011 Dec 2.

Laboratoire d'Histologie, Cytologie et Cytogénétique, Faculté de Médecine et des Sciences de Santé, Université de Bretagne Occidentale, 22, Avenue Camille Desmoulins, CS 93837, F-29238 Brest cedex 3, France.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121100125
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http://dx.doi.org/10.1016/j.ejmg.2011.11.005DOI Listing
February 2012

Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma.

Oncol Rep 2003 May-Jun;10(3):773-5

Unita di Oncoematologia, Ospedale Pediatrico A. Meyer, I-50132 Florence, Italy.

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December 2003

Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome.

Clin Dysmorphol 2003 Oct;12(4):267-8

Paediatric Endocrinology Unit, Department of Paediatrics, University of Florence, A. Meyer Children's Hospital, Florence, Italy.

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http://pdfs.journals.lww.com/clindysmorphol/2003/10000/Thyro
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http://dx.doi.org/10.1097/01.mcd.0000086849.79917.a7DOI Listing
October 2003

Identification of forensic samples by using an infrared-based automatic DNA sequencer.

Croat Med J 2003 Jun;44(3):299-305

Genetics and Molecular Medicine Unit, A. Meyer Hospital, University of Florence, A. Meyer Hospital, Via Luca Giordano 13, 50132 Florence, Italy.

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http://neuron.mefst.hr/docs/CMJ/issues/2003/44/3/12808722.pd
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June 2003

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

Neuromuscul Disord 2002 Oct;12(7-8):674-9

Department of Medical Genetics, University of Helsinki, P.O. Box 211, 0251, Helsinki, Finland.

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October 2002

Analysis of 13 tetrameric short tandem repeat loci in a population of Tuscany (Central Italy) performed by means of an automated infrared sequencer.

Forensic Sci Int 2002 Jan;125(1):83-5

Genetic and Molecular Medicine Unit, University of Florence-Azienda, "A. Meyer"-Via Luca Giordano, 13 I-50132 Florence, Italy.

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http://dx.doi.org/10.1016/s0379-0738(01)00604-1DOI Listing
January 2002