Marina Colombi

Marina Colombi

UNVERIFIED PROFILE

Are you Marina Colombi?   Register this Author

Register author
Marina Colombi

Marina Colombi

Publications by authors named "Marina Colombi"

Are you Marina Colombi?   Register this Author

100Publications

2269Reads

18Profile Views

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

PLoS One 2019 4;14(2):e0211647. Epub 2019 Feb 4.

Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211647PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361458PMC
November 2019

Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.

Rheumatology (Oxford) 2019 Oct;58(10):1722-1730

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/rheumatology/kez029DOI Listing
October 2019

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.

Eur J Med Genet 2019 Oct 18;62(10):103727. Epub 2019 Jul 18.

Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile "S. Agostino-Estense", Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.103727DOI Listing
October 2019

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Clin Genet 2019 Oct 10. Epub 2019 Oct 10.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13653DOI Listing
October 2019

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel Variant.

Genes (Basel) 2019 10 25;10(11). Epub 2019 Oct 25.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10110843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895888PMC
October 2019

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes.

Genes (Basel) 2019 08 12;10(8). Epub 2019 Aug 12.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10080609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6723307PMC
August 2019

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Genes (Basel) 2019 08 21;10(9). Epub 2019 Aug 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10090631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770791PMC
August 2019

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.

Mol Genet Genomic Med 2019 Jul 21;7(7):e00735. Epub 2019 May 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625097PMC
July 2019

Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome.

Endocrine 2019 02 15;63(2):225-230. Epub 2018 Dec 15.

Vita-Salute San Raffaele University, Milano, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s12020-018-1822-y
Publisher Site
http://dx.doi.org/10.1007/s12020-018-1822-yDOI Listing
February 2019

Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome.

Genes (Basel) 2019 02 12;10(2). Epub 2019 Feb 12.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10020135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410021PMC
February 2019

Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy.

Neurology 2018 07 13;91(3):e227-e235. Epub 2018 Jun 13.

From U.O. Neurologia (P.C.), Istituto Ospedaliero Poliambulanza, Brescia; Dipartimento di Scienze Cliniche e Sperimentali (A. Pezzini, L.P., V.D.G., F.C., A. Padovani), Clinica Neurologica, Università degli Studi di Brescia; Dipartimento di Scienze del Sistema Nervoso e del Comportamento (M. Grassi), Unità di Statistica Medica e Genomica, Università di Pavia; Laboratorio di Epidemiologia Molecolare e Nutrizionale (L.I., A.D.C., G.d.G.), Dipartimento di Epidemiologia e Prevenzione, IRCCS Istituto Neurologico Mediterraneo, NEUROMED, Pozzilli; S.C. Neurologia (M.Z.), Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia; Neurologia d'Urgenza and Stroke Unit (S.M.), IRCCS Istituto Clinico Humanitas, Rozzano-Milano; Stroke Unit (G.S.), Dipartimento di Neuroscienze, Ospedale Carlo Poma, Mantova; Unità di Neurologia (M.L.D.), Ospedale di Circolo, Università dell'Insubria, Varese; U.O. Neurologia (M.S.), Istituti Ospedalieri di Cremona, Cremona; Stroke Unit (A.Z.), Clinica Neurologica, Nuovo Ospedale Civile, "S. Agostino Estense," AUSL Modena; Stroke Unit and Divisione di Medicina Cardiovascolare (M.P., G.A.), Università di Perugia; Stroke Unit (C.A., A.D.V.), Divisione di Neurologia, Dipartimento di Neuroscienze e Riabilitazione, Azienda Ospedaliero-Universitaria di Ferrara; Stroke Unit (M. Gamba), Neurologia Vascolare, Spedali Civili di Brescia; Unità di Neurologia (M.D.S.), E.O. Ospedali Galliera, Genova; U.O.C. Neurologia (A.T., N.P.), A.O. Universitaria "San Giovanni di Dio e Ruggi d'Aragona," Salerno; Dipartimento di Neuroscienze (C.G.), Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili, Università di Genova; U.O. Neurologia (D.M.B.), Azienda Ospedaliera "Cà Foncello," Treviso; Stroke Unit (R.T., G.M.), AOU Senese, Siena; Stroke Unit (A. Cavallini, A.M.), IRCCS Fondazione Istituto Neurologico Nazionale "C. Mondino," Pavia; Neurologia (A. Chiti), Azienda Ospedaliero Universitaria Pisana, Pisa; Istituto di Ricovero e Cura a Carattere Scientifico (R.S.C.), Centro Neurolesi Bonino-Pulejo, Messina; Dipartimento di Neuroscienze (F.G.), Scienze Psichiatriche e Anestesiologiche Clinica Neurologica, Università di Messina; USD Stroke Unit (P.B., G.T.), DAI di Neuroscienze, Azienda Ospedaliera Universitaria Integrata Verona; Centro Trombosi (C.L.), IRCCS Istituto Clinico Humanitas, Rozzano-Milano; Divisione di Biologia e Genetica (M.R., M.C.), Dipartimento di Medicina Molecolare e Traslazionale, Università degli Studi di Brescia; and Dipartimento di Specialità Medico-Chirurgiche (C.C.), Scienze Radiologiche e Sanità Pubblica, Clinica Neurochirurgica, Università degli Studi di Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000005814DOI Listing
July 2018

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Biochim Biophys Acta Mol Basis Dis 2018 Apr 5;1864(4 Pt A):1010-1023. Epub 2018 Jan 5.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2018.01.005DOI Listing
April 2018

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Eur J Hum Genet 2018 04 21;26(4):582-586. Epub 2018 Feb 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0079-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891500PMC
April 2018

Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.

Int J Mol Sci 2018 Mar 26;19(4). Epub 2018 Mar 26.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms19040982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979373PMC
March 2018

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity.

J Dermatol Sci 2018 Feb 22;89(2):201-204. Epub 2017 Nov 22.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdermsci.2017.11.009DOI Listing
February 2018

Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain.

Genes (Basel) 2018 Feb 8;9(2). Epub 2018 Feb 8.

Division of Biology and Genetics-Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes9020079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852575PMC
February 2018

A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.

Am J Nephrol 2016 27;43(4):245-50. Epub 2016 Apr 27.

Division of Nephrology, Fourth Department of Internal Medicine, Klinikum Wels-Grieskirchen, Wels, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000445845DOI Listing
January 2018

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

Eur J Med Genet 2018 Jan 9;61(1):17-20. Epub 2017 Oct 9.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.10.005DOI Listing
January 2018

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

J Dermatol Sci 2017 Oct 29;88(1):141-143. Epub 2017 Apr 29.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdermsci.2017.04.010DOI Listing
October 2017

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Orphanet J Rare Dis 2017 09 7;12(1):153. Epub 2017 Sep 7.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-017-0704-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590203PMC
September 2017

Arterial tortuosity in patients with spontaneous cervical artery dissection.

Neuroradiology 2017 Jun 11;59(6):571-575. Epub 2017 May 11.

Dipartimento di Scienze Cliniche e Sperimentali, Clinica Neurologica, Università degli Studi di Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00234-017-1836-9DOI Listing
June 2017

Ehlers-Danlos syndrome, classical type.

Am J Med Genet C Semin Med Genet 2017 03 13;175(1):27-39. Epub 2017 Feb 13.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31548DOI Listing
March 2017

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

Am J Med Genet A 2017 Feb 7;173(2):524-530. Epub 2016 Nov 7.

Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.38035
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38035DOI Listing
February 2017

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.

Am J Med Genet A 2017 Jan 12;173(1):200-206. Epub 2016 Sep 12.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37975DOI Listing
January 2017

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

Am J Med Genet A 2017 Jan 14;173(1):169-176. Epub 2016 Oct 14.

Unit of Clinical Genetics, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38004DOI Listing
January 2017

Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.

Cytogenet Genome Res 2016 17;150(1):40-45. Epub 2016 Nov 17.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000452724DOI Listing
January 2017

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

Am J Med Genet A 2016 08 5;170(8):2031-8. Epub 2016 May 5.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37728DOI Listing
August 2016

Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage.

Stroke 2016 08 21;47(8):2141-3. Epub 2016 Jun 21.

From the Dipartimento di Scienze Cliniche e Sperimentali, Clinica Neurologica (A.M., P.C., L.P., V.D.G., A. Padovani, A. Pezzini) and Sezione di Biologia e Genetica, Dipartimento di Medicina Molecolare e Traslazionale (M.R., M.C.), Università degli Studi di Brescia, Brescia, Italy; Stroke Unit, Divisione di Medicina Cardiovascolare, Università di Perugia, Perugia, Italy (M.P., V.C., G.A.); Stroke Unit, Clinica Neurologica, Nuovo Ospedale Civile "S. Agostino Estense", AUSL Modena, Modena, Italy (A.Z., A.M.S., M.L.D.A.); S.C. di Neurologia e S.S. di Stroke Unit, ASST di Mantova, Mantova, Italy (G.S., A.L., A.C.); U.O. di Recupero e Rieducazione Funzionale, IRCCS Fondazione Don Gnocchi, Rovato, Italy (E.D.Z.); Stroke Unit, Neurologia Vascolare, Spedali Civili di Brescia, Brescia, Italy (M.G.); Laboratorio di Epidemiologia Molecolare e Nutrizionale, Dipartimento di Epidemiologia e Prevenzione, IRCCS Istituto Neurologico Mediterraneo, NEUROMED, Pozzilli, Italy (A.D.C., L.I., G.d.G.); and Dipartimento di Scienze del Sistema Nervoso e del Comportamento, Unità di Statistica Medica e Genomica, Università di Pavia, Pavia, Italy (M.G.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/STROKEAHA.116.013722DOI Listing
August 2016

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes.

Neurology 2016 07 15;87(2):155-9. Epub 2016 Jun 15.

From 3rd Neurology Unit and Skin Biopsy (D.C., R.L., F.C., E.D.B., G.L.), Peripheral Neuropathy and Neuropathic Pain Laboratory, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan; Unit of Medical Genetics (M.C., P.G.), Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy; Neurology Unit (A.P.), San Camillo-Forlanini Hospital, Rome; and Division of Biology and Genetics (C.D., M.C.), Department of Molecular and Translational Medicine, University of Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940063PMC
July 2016

Aortic rupture after thoracic endovascular repair in a patient with familial thoracic aortic aneurysm and dissections type 6 (FTAAD6).

J Cardiovasc Surg (Torino) 2016 Jun;57(3):482-3

Department of Cardiology and Interventional Cardiology, Ospedali Riuniti Marche Nord, Pesaro, Italy -

View Article

Download full-text PDF

Source
June 2016

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

Hum Mol Genet 2015 Dec 16;24(23):6769-87. Epub 2015 Sep 16.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634379PMC
December 2015

Chronic glutamate treatment selectively modulates AMPA RNA editing and ADAR expression and activity in primary cortical neurons.

RNA Biol 2015 ;12(1):43-53

a Biology and Genetic Division; Department of Molecular and Translational Medicine; National Institute of Neuroscience; University of Brescia ; Brescia , Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15476286.2015.1008365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4615659PMC
November 2015

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

Orphanet J Rare Dis 2015 Nov 11;10:145. Epub 2015 Nov 11.

Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0360-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642625PMC
November 2015

Melatonin decreases cell proliferation, impairs myogenic differentiation and triggers apoptotic cell death in rhabdomyosarcoma cell lines.

Oncol Rep 2015 Jul 19;34(1):279-87. Epub 2015 May 19.

Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, I-25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/or.2015.3987DOI Listing
July 2015

Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

Intern Emerg Med 2015 Mar 15;10(2):165-70. Epub 2015 Jan 15.

Emergency Department Stroke Unit, Department of Neurology and Psychiatry, Policlinico Umberto I Hospital, Sapienza University, Viale del Policlinico 155, 00161, Rome, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11739-015-1187-7DOI Listing
March 2015

Connective tissue anomalies in patients with spontaneous cervical artery dissection.

Neurology 2014 Nov 29;83(22):2032-7. Epub 2014 Oct 29.

From the U.O. Neurologia (A.G.), Istituto Clinico S. Anna, Brescia; Dipartimento di Scienze Cliniche e Sperimentali (P.C., A.M., L.P., I.V., V.D.G., A. Padovani, A. Pezzini), Clinica Neurologica, Università degli Studi di Brescia; U.O. di Recupero e Rieducazione Funzionale (E.D.Z.), IRCCS Fondazione Don Gnocchi, Milano; Stroke Unit (M.G.), Neurologia Vascolare, Spedali Civili di Brescia; U.O. Neurologia (P.B., G.T., M. Carletti), Azienda Ospedaliera-Universitaria Borgo Trento, Verona; U.O.C. Neurologia (N. Checcarelli), Ospedale Valduce, Como; Dipartimento di Neuroscienze (G.M.), Università di Padova; U.O.C. Neurologia (M.M.), Ospedale di Arzignano; S.O.C. Neurologia (M. Chinaglia), Ospedale di Rovigo; and Sezione di Biologia e Genetica (M.R., N. Chiarelli, M. Colombi), Dipartimento di Medicina Molecolare e Traslazionale, Università degli Studi di Brescia, Italia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248452PMC
November 2014

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

BMC Med Genet 2014 Aug 28;15:91. Epub 2014 Aug 28.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Viale Europa 11, Brescia 25123, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-014-0091-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236574PMC
August 2014

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

J Dermatol Sci 2014 Jul 18;75(1):66-8. Epub 2014 Apr 18.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdermsci.2014.04.004DOI Listing
July 2014

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Am J Med Genet A 2014 Feb 5;164A(2):528-34. Epub 2013 Dec 5.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36301
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36301DOI Listing
February 2014

Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy.

Neurology 2014 Feb 15;82(6):529-35. Epub 2014 Jan 15.

From the Dipartimento di Scienze Cliniche e Sperimentali, Clinica Neurologica (A. Pezzini, P.C., L.P., A.M., V.D.G., A. Padovani), and Divisione di Biologia e Genetica, Dipartimento di Medicina Molecolare e Traslazionale (M.R., M.C.), Università degli Studi di Brescia; Dipartimento di Scienze del Sistema Nervoso e del Comportamento (M. Grassi, D.P.), Unità di Statistica Medica e Genomica, Università di Pavia; Stroke Unit and Divisione di Medicina Cardiovascolare (M.P., V.C., G.A.), Università di Perugia; Stroke Unit (A.Z., M.L.D., A.M.S.), Clinica Neurologica, Nuovo Ospedale Civile "S. Agostino Estense," AUSL Modena; U.O di Neurologia (G.S., A.L., A.C.), Ospedale "C. Poma," Mantova; U.O. di Recupero e Rieducazione Funzionale (E.D.Z.), IRCCS Fondazione Don Gnocchi, Rovato; U.O Neurologia (A.G., I.V.), Istituto Clinico "S. Anna," Brescia; and Stroke Unit (M. Gamba), Neurologia Vascolare, Spedali Civili di Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000108DOI Listing
February 2014

Complications of acute stroke and the occurrence of early seizures.

Cerebrovasc Dis 2013 31;35(5):444-50. Epub 2013 May 31.

Dipartimento di Scienze Cliniche e Sperimentali, Università degli Studi di Brescia, Brescia, Italia. alessandro.pezzini @ med.unibs.it

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000348704DOI Listing
January 2014

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

BMC Med Genet 2014 Jan 7;15. Epub 2014 Jan 7.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-15-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890613PMC
January 2014

X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.

Am J Med Genet A 2013 Jun 23;161A(6):1414-20. Epub 2013 Apr 23.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35882DOI Listing
June 2013

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.

Am J Med Genet A 2013 May 26;161A(5):1143-7. Epub 2013 Mar 26.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35825DOI Listing
May 2013

Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.

Biochim Biophys Acta 2012 Oct 15;1820(10):1576-87. Epub 2012 Jun 15.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03044165120017
Publisher Site
http://dx.doi.org/10.1016/j.bbagen.2012.06.004DOI Listing
October 2012

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.

Am J Med Genet A 2012 Sep 27;158A(9):2176-82. Epub 2012 Jul 27.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35506DOI Listing
September 2012

Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: case report.

Clin Neurol Neurosurg 2012 Jul 23;114(6):758-61. Epub 2012 Jan 23.

Clinica Neurologica, Dipartimento di Scienze Mediche e Chirurgiche, Università degli Studi di Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2011.12.031DOI Listing
July 2012

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Am J Med Genet A 2012 May 9;158A(5):1164-9. Epub 2012 Apr 9.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35266DOI Listing
May 2012

Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome.

Am J Med Genet A 2012 May 9;158A(5):1216-8. Epub 2012 Apr 9.

Marfan Center, Cardiothoracovascular Department, University Hospital S.Orsola, Bologna, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35277DOI Listing
May 2012

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.

J Neurol Neurosurg Psychiatry 2011 Dec 26;82(12):1372-4. Epub 2011 Jan 26.

Dipartimento di Scienze Mediche e Chirurgiche, Clinica Neurologica, Università degli Studi di Brescia, P le Spedali Civili, 1, 25100 Brescia, Italia.

View Article

Download full-text PDF

Source
http://jnnp.bmj.com/cgi/doi/10.1136/jnnp.2010.231902
Publisher Site
http://dx.doi.org/10.1136/jnnp.2010.231902DOI Listing
December 2011

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

Int J Dev Biol 2011 ;55(2):229-36

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1387/ijdb.103179ncDOI Listing
December 2011

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.

Am J Med Genet A 2010 Aug;152A(8):2043-7

Medical Genetics, Department of Experimental Medicine, Sapienza - University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33490DOI Listing
August 2010

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Orphanet J Rare Dis 2009 Nov 2;4:24. Epub 2009 Nov 2.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-4-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774663PMC
November 2009

Arterial tortuosity syndrome in two Italian paediatric patients.

Orphanet J Rare Dis 2009 Sep 25;4:20. Epub 2009 Sep 25.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-4-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759904PMC
September 2009

Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen.

ScientificWorldJournal 2008 Oct 3;8:956-8. Epub 2008 Oct 3.

Department of Biochemistry A. Castellani, University of Pavia, 27100 Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1100/tsw.2008.131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849222PMC
October 2008

Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1.

J Invest Dermatol 2008 Aug 28;128(8):1915-9. Epub 2008 Feb 28.

Department of Biochemistry A. Castellani, University of Pavia, Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2008.33DOI Listing
August 2008

FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts.

Biochim Biophys Acta 2008 Jun 20;1783(6):1177-88. Epub 2008 Mar 20.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbamcr.2008.03.003DOI Listing
June 2008

The FN13 peptide inhibits human tumor cells invasion through the modulation of alpha v beta 3 integrins organization and the inactivation of ILK pathway.

Biochim Biophys Acta 2007 Jun 24;1773(6):747-63. Epub 2007 Feb 24.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S016748890700044
Publisher Site
http://dx.doi.org/10.1016/j.bbamcr.2007.02.007DOI Listing
June 2007

Ischemic stroke in an adolescent with arterial tortuosity syndrome.

Neurology 2007 May;68(19):1637; author reply 1637

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/01.wnl.0000265605.78072.34DOI Listing
May 2007

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.

Am J Med Genet A 2007 Jan;143A(2):216-8

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31514DOI Listing
January 2007

Study of conformational properties of a biologically active peptide of fibronectin by circular dichroism, NMR and molecular dynamics simulation.

Phys Chem Chem Phys 2006 Oct 19;8(40):4668-77. Epub 2006 Sep 19.

Dipartimento di Scienze Biomediche e Biotecnologie, Università di Brescia, viale Europa 11, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://xlink.rsc.org/?DOI=b604807b
Publisher Site
http://dx.doi.org/10.1039/b604807bDOI Listing
October 2006

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.

Biochem Biophys Res Commun 2005 Dec 26;338(3):1391-401. Epub 2005 Oct 26.

Department of Clinical and Molecular Pathology, IDI-Ospedale S. Carlo, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2005.10.097DOI Listing
December 2005

Exclusion of candidate genes in a family with arterial tortuosity syndrome.

Am J Med Genet A 2004 Apr;126A(3):221-8

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20589DOI Listing
April 2004