Aldesia Provenzano

Aldesia Provenzano

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Aldesia Provenzano

Aldesia Provenzano

Publications by authors named "Aldesia Provenzano"

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19Publications

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Neurocutaneous melanosis is not always a benign disease.

Indian J Dermatol Venereol Leprol 2019 Sep 11. Epub 2019 Sep 11.

Department of Pediatrics, Hematology, Oncology and Bone Marrow Transplantation Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_456_18DOI Listing
September 2019

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype.

Biomed Res Int 2018 5;2018:8386123. Epub 2018 Sep 5.

Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, University of Florence, Italy.

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https://www.hindawi.com/journals/bmri/2018/8386123/
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http://dx.doi.org/10.1155/2018/8386123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145047PMC
January 2019

SLMSuite: a suite of algorithms for segmenting genomic profiles.

BMC Bioinformatics 2017 Jun 28;18(1):321. Epub 2017 Jun 28.

Department of Experimental and Clinical Medicine, University of Florence, Viale Pieraccini 6, Florence, 50139, Italy.

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http://dx.doi.org/10.1186/s12859-017-1734-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490196PMC
June 2017

Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis.

Am J Cancer Res 2016 1;6(12):2910-2918. Epub 2016 Dec 1.

Medical Genetics Unit, Meyer Children's University HospitalViale Pieraccini 2450139, Florence, Italy; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of FlorenceViale Morgagni 5050134, Florence, Italy (S.G.).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5199764PMC
December 2016

Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?

J Nephrol 2016 Aug 21;29(4):543-50. Epub 2016 May 21.

Nephrology and Dialysis Unit, Meyer Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1007/s40620-016-0315-4DOI Listing
August 2016

Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis.

Br J Haematol 2016 06 25;173(6):938-40. Epub 2015 Aug 25.

Laboratorio Congiunto per le Malattie Mieloproliferative, Università degli Studi di Firenze, Azienda Ospedaliera Universitaria Careggi, Florence, Italy.

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http://dx.doi.org/10.1111/bjh.13644DOI Listing
June 2016

Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.

J Am Soc Nephrol 2015 Aug 7;26(8):1961-74. Epub 2015 Jan 7.

Excellence Centre for Research, Transfer and High Education for the Development of DE NOVO Therapies (DENOTHE) and Department of Clinical and Experimental Biomedical Sciences, University of Florence, Florence, Italy; Pediatric Nephrology Unit, Meyer Children's University Hospital, Florence, Italy;

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http://dx.doi.org/10.1681/ASN.2014010057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520157PMC
August 2015

Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion.

Clin Case Rep 2015 Jul 11;3(7):643-5. Epub 2015 Jun 11.

Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy ; Medical Genetics Unit, Meyer Children's University Hospital Florence, Italy.

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http://dx.doi.org/10.1002/ccr3.283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527815PMC
July 2015

Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.

J Am Soc Nephrol 2015 Jan 24;26(1):230-6. Epub 2014 Jul 24.

Department of Biomedical Experimental and Clinical Sciences "Mario Serio," and Pediatric Nephrology Units, Meyer Children's University Hospital, Florence, Italy; Excellence Centre for Research, Transfer and High Education for the Development of DE NOVO Therapies (DENOTHE), University of Florence, Florence, Italy;

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http://dx.doi.org/10.1681/ASN.2013111155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279734PMC
January 2015

Genome-wide copy number analysis in pediatric glioblastoma multiforme.

Am J Cancer Res 2014 26;4(3):293-303. Epub 2014 May 26.

Medical Genetics Unit, Meyer Children's University Hospital Florence, Italy ; Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy ; FiorGen Foundation for Pharmacogenomics Sesto Fiorentino, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065410PMC
June 2014

Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis.

Pediatr Nephrol 2011 Feb 9;26(2):323-4. Epub 2010 Aug 9.

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http://dx.doi.org/10.1007/s00467-010-1630-yDOI Listing
February 2011

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.

Genet Test 2008 Jun;12(2):311-8

Department of Clinical Physiopathology, Medical Genetics Unit, University of Florence, Firenze, Italy.

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http://dx.doi.org/10.1089/gte.2007.0096DOI Listing
June 2008

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

Hum Mutat 2008 Feb;29(2):227-31

Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/humu.20679DOI Listing
February 2008