Publications by authors named "Stefania Bigoni"

30Publications

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in .

Genes (Basel) 2020 Oct 9;11(10). Epub 2020 Oct 9.

Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Facoltà di Medicina e Chirurgia, Università Cattolica Sacro Cuore, 00168 Roma, Italy.

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http://dx.doi.org/10.3390/genes11101177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600039PMC
October 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

Report of a novel ATP7A mutation causing distal motor neuropathy.

Neuromuscul Disord 2019 10 23;29(10):776-785. Epub 2019 Aug 23.

Department of Medical Sciences, Section of Medical Genetics, University of Ferrara - Unit of Medical Genetics - University Hospital, Via Fossato di Mortara, 74, 44121 Ferrara, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.008DOI Listing
October 2019

Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles.

BMC Pediatr 2018 10 19;18(1):333. Epub 2018 Oct 19.

Neuropsychiatric Genetics, Trinity Centre for Health Sciences, St. James's Hospital, D8 Dublin, Ireland.

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http://dx.doi.org/10.1186/s12887-018-1304-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195747PMC
October 2018

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature.

Mol Syndromol 2018 Jul 30;9(4):175-181. Epub 2018 May 30.

UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, University Hospital S. Anna, Ferrara, Italy.

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http://dx.doi.org/10.1159/000489842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103356PMC
July 2018

Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.

Mol Syndromol 2017 Dec 13;9(1):30-37. Epub 2017 Sep 13.

UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, Ferrara, Italy.

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http://dx.doi.org/10.1159/000480159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803729PMC
December 2017

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome.

Minerva Pediatr 2018 Dec 7;70(6):638-639. Epub 2017 Sep 7.

Department of Ear Nose and Throat and Audiology, Ferrara University Hospital, Ferrara, Italy.

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http://dx.doi.org/10.23736/S0026-4946.17.04993-3DOI Listing
December 2018

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.

Front Neurol 2017 21;8:385. Epub 2017 Aug 21.

Department of Biomedical and Specialistic Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, Ferrara University, Ferrara, Italy.

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http://dx.doi.org/10.3389/fneur.2017.00385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573443PMC
August 2017

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.

Pediatrics 2017 09 9;140(3). Epub 2017 Aug 9.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR, Naples, Italy;

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http://dx.doi.org/10.1542/peds.2016-2950DOI Listing
September 2017

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Hum Mutat 2017 02 9;38(2):216-225. Epub 2016 Dec 9.

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

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http://dx.doi.org/10.1002/humu.23149DOI Listing
February 2017

A Family with γ-Thalassemia and High Hb A2 Levels.

Hemoglobin 2016 Jun;40(3):187-90

a Dipartimento di Riproduzione e Accressimento e Dipartimento di Scienze Mediche, Unità Operativa Logistica (UOL) di Genetica Medica, Ospedale Universitario S. Anna , Ferrara , Italia and.

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http://dx.doi.org/10.3109/03630269.2016.1148613DOI Listing
June 2016

Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1).

Autism Res Treat 2016 26;2016:5073078. Epub 2016 Jan 26.

Tuscany Rett Center, Ospedale Versilia, 55043 Lido di Camaiore, Italy; Department of Psychiatry, Trinity College Dublin, College Green, Dublin 2, Ireland; Neuropsychiatric Genetics, Trinity Centre for Health Sciences, St. James Hospital, Dublin 8, Ireland.

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http://dx.doi.org/10.1155/2016/5073078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746298PMC
February 2016

Thyroid function in Rett syndrome.

Horm Res Paediatr 2015 21;83(2):118-25. Epub 2015 Jan 21.

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

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http://dx.doi.org/10.1159/000370066DOI Listing
December 2015

Genetic counseling for women referred for advanced maternal age: a telegenetic approach.

Genet Med 2014 Oct;16(10):795

1] Section of Medical Genetics and Microbiology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy [2] Medical Genetics Unit, Department of Reproduction and Growth, S. Anna University Hospital, Ferrara, Italy.

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http://dx.doi.org/10.1038/gim.2014.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189378PMC
October 2014

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.

Neuromuscul Disord 2004 Nov;14(11):750-3

Laboratorio di Patologia Genetica, IRCCS Oasi Maria SS, via Conte Ruggero 73, Troina (Enna) 94018, Italy.

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http://dx.doi.org/10.1016/j.nmd.2004.05.017DOI Listing
November 2004