Sabrina Giglio

Sabrina Giglio

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Sabrina Giglio

Sabrina Giglio

Publications by authors named "Sabrina Giglio"

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Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.

Clin Genet 2019 Oct 15;96(4):359-365. Epub 2019 Jul 15.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.

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http://dx.doi.org/10.1111/cge.13600DOI Listing
October 2019

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Eur J Hum Genet 2019 Jun 25;27(6):909-918. Epub 2019 Jan 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/s41431-019-0335-3DOI Listing
June 2019

A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation.

Mol Clin Oncol 2019 Mar 2;10(3):331-338. Epub 2019 Jan 2.

Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's University Hospital, I-50139 Florence, Italy.

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http://www.spandidos-publications.com/10.3892/mco.2019.1795
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http://dx.doi.org/10.3892/mco.2019.1795DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6388501PMC
March 2019

[A child with severe growth delay and renal cysts].

G Ital Nefrol 2019 Feb;36(1)

UO Genetica Medica, Ospedale Meyer Firenze.

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February 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

Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation.

AJP Rep 2018 Jan 7;8(1):e39-e42. Epub 2018 Mar 7.

Department of Neuroscience, Psychology, Drug Research and Child Health, Careggi University Hospital of Florence, Florence, Italy.

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http://dx.doi.org/10.1055/s-0038-1636427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842069PMC
January 2018

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.

Eur J Med Genet 2017 Jul 13;60(7):365-368. Epub 2017 Apr 13.

Medical Genetics Unit, Meyer Children's University Hospital, viale Gaetano Pieraccini, 24, 50139 Florence, Italy; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, viale Gaetano Pieraccini, 6, 50139 Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.007DOI Listing
July 2017

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Eur J Paediatr Neurol 2017 Jul 15;21(4):671-677. Epub 2017 Apr 15.

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.04.004DOI Listing
July 2017

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

Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

Eur J Med Genet 2017 May 7;60(5):261-264. Epub 2017 Mar 7.

Neuroradiology Department, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2017.03.002DOI Listing
May 2017

Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay.

Minerva Pediatr 2017 Apr 24;69(2):162-164. Epub 2016 May 24.

Department of Neuroscience, AFaR "S. Giovanni Calibita" Fatebenefratelli Hospital, Rome, Italy -

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http://dx.doi.org/10.23736/S0026-4946.16.04326-7DOI Listing
April 2017

Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.

BMC Ophthalmol 2017 Feb 24;17(1):19. Epub 2017 Feb 24.

Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla, Florence, 3-50134, Italy.

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http://dx.doi.org/10.1186/s12886-017-0406-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324242PMC
February 2017

Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient.

Future Oncol 2017 Jan 15;13(1):9-12. Epub 2016 Aug 15.

Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's University Hospital, Florence, Italy.

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http://dx.doi.org/10.2217/fon-2016-0236DOI Listing
January 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

Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.

Eur J Med Genet 2016 Nov 19;59(11):590-595. Epub 2016 Sep 19.

Tuscany Regional Centre of Pediatric Diabetes, Meyer University Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.016DOI Listing
November 2016

Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549, 931 births in Tuscany.

J Matern Fetal Neonatal Med 2015 11;28(17):2066-9. Epub 2014 Nov 11.

a Medical Surgical Fetal-Neonatal Department , "A. Meyer" University Children's Hospital , Florence , Italy .

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http://dx.doi.org/10.3109/14767058.2014.977861DOI Listing
August 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

Bone mineral status and metabolism in patients with Williams-Beuren syndrome.

Hormones (Athens) 2016 Jul;15(3):404-412

Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy.

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http://dx.doi.org/10.14310/horm.2002.1683DOI Listing
July 2016

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome.

Int J Endocrinol 2016 16;2016:3032759. Epub 2016 Jun 16.

Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, 50139 Florence, Italy.

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http://dx.doi.org/10.1155/2016/3032759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927985PMC
July 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

Determinants of vitamin d levels in children and adolescents with down syndrome.

Int J Endocrinol 2015 20;2015:896758. Epub 2015 Jan 20.

Health Sciences Department, Anna Meyer Children's University Hospital, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy.

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http://dx.doi.org/10.1155/2015/896758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320854PMC
February 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

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.

Am J Med Genet A 2013 Jun 30;161A(6):1459-64. Epub 2013 Apr 30.

Pediatric Neurology Unit and Laboratories, Pediatric Hospital A. Meyer, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35907DOI Listing
June 2013

Multiorgan infiltration by CD8+ T cells and 1p;16p translocation in a patient with hypogammaglobulinemia and a reduced number of B cells.

Int Arch Allergy Immunol 2012 26;158(2):206-10. Epub 2012 Jan 26.

Immunoallergology Unit, Department of Biomedicine, AOU Careggi, Florence, Italy.

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http://dx.doi.org/10.1159/000331117DOI Listing
August 2012

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Am J Med Genet A 2011 May 11;155A(5):1140-6. Epub 2011 Apr 11.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33880DOI Listing
May 2011

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

Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene.

Nephrol Dial Transplant 2010 Sep 13;25(9):3116-9. Epub 2010 Jun 13.

Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Italy.

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https://academic.oup.com/ndt/article-lookup/doi/10.1093/ndt/
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http://dx.doi.org/10.1093/ndt/gfq315DOI Listing
September 2010

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.

Pediatr Nephrol 2009 Nov 29;24(11):2147-53. Epub 2009 Jul 29.

Department of Clinical Pathophysiology, University of Florence, Italy.

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http://dx.doi.org/10.1007/s00467-009-1261-3DOI Listing
November 2009

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

Nephrol Dial Transplant 2009 Sep 13;24(9):2734-8. Epub 2009 Apr 13.

Department of Clinical Pathophysiology, University of Florence, Italy.

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http://dx.doi.org/10.1093/ndt/gfp160DOI Listing
September 2009

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

Am J Med Genet A 2005 Mar;133A(2):189-92

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30519DOI Listing
March 2005