Scientific Publications B.I.R.D. Foundation

Updated list of scientific publications produced by researchers affiliated with the Rare Disease Foundation “Mauro Baschirotto” B.I.R.D. in the period 2001-2022.

Paola Cattelan, Daniela Segat, Maria Vittoria Enzo, Uros Hladnik, Paola de Gemmis. Detailed study of HPRT1 Gross Deletions Found in 10 Italian Lesch-Nyhan Families. Medical Clinical Research Vol.6 Issue 6: 569-574 (2021).
Dario Musone, Valentina Nicosia, Antonio Treglia, Francesco Amoroso, Paola de Gemmis, Maria Vittoria Enzo, Uros Hladnik. Eterozigosi composta con nuova mutazione del gene AQP2 in sorelle affette da diabete insipido nefrogenico autosomico recessivo. G Ital Nefrol; Anno 37 Volume 2 n° 8 (2020).
Contrò G, Tallerico R, Dattilo V, Fabiani F, Enzo MV, Hladnik U, Dastoli S, Nisticò SP, Colao E, Perrotti N, Iuliano R. A novel ABCC6 variant causative of pseudoxanthoma elasticum. Hum Genome Var. Jun 20;6:30 (2019).
Iughetti L, Vivi G, Balsamo A, Corrias A, Crinò A, Delvecchio M, Gargantini L, Greggio NA, Grugni G, Hladnik U, Pilotta A, Ragusa L, Salvatoni A, Wasniewska M, Weber G, Predieri B. Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients. J Pediatr Endocrinol Metab. Feb 25;32(2):159-165. (2019).
Maria Vittoria Enzo, Paola Cattelan, Marco Rastrelli, Annalisa Tosi, Carlo Riccardo Rossi, Uros Hladnik, Daniela Segat. Growth rate and myofibroblast differentiation of desmoid fibroblast-like cells are modulated by TGF- signaling. Histochemistry and Cell Biology Feb;151(2):145-160 (2019).
Sanjeeva GN, Maganthi M, Kodishala H, Marol RKR, Kulshreshtha PS, Lorenzetto E, Kadandale JS, Hladnik U, Raghupathy P, Bhat M. Clinical and Molecular Characterization of Prader-Willi Syndrome. Indian J Pediatr. (2017).
Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani. A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable Occipital Horn syndrome phenotype. Molecular Genetics and Metabolism Reports (2017).
Paola de Gemmis & Maria Vittoria Enzo, Elisa Lorenzetto, Paola Cattelan, Daniela Segat, Uros Hladnik. 13 novel putative mutations in ATP7A found in a cohort of 25 Italian families. Metabolic Brain Disease (2017).
Castellani C, Picci L, Tridello G, Casati E, Tamanini A, Bartoloni L, Scarpa M, Assael BM; Veneto CF Lab Network. Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genet Med. (2016).
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S., Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium, Hurles M, Raymond FL. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Hum Mutat. (2015).
Maria Vittoria Enzo, Marco Rastrelli, Carlo Riccardo Rossi, Uros Hladnik and Daniela Segat. The Wnt/β-catenin pathway in human fibrotic-like diseases and its eligibility as a therapeutic target. Molecular and Cellular Therapies (2015).
Torcoletti, Marta; Petaccia, Antonella; Pinto, Rita Maria; Hladnik, Uros; Locatelli, Franco; Agostoni, Carlo; Corona, Fabrizia. Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic hematopoietic stem cell transplantation. Rheumatology. 2014 March 10.
Cattelan P, Dolcetta D, Hladnik U, Fortunati E. HIV-1 TAT-mediated protein transduction of human HPRT into deficient cells. Biochem Biophys Res Commun. 2013 Nov 8; 441(1):114-9.
Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U. Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients. Nucleotides Nucleic Acids. 2013; 32(4):174-88.
Cristiana Meneghello, Bouchra Ousghir, Marco Rastrelli, Laura Anesi, Antonio Sommariva, Maria Cristina Montesco, Carlo Riccardo Rossi, Uros Hladnik, Daniela Segat. Nuclear GSK-3β segregation in desmoid-type fibromatosis. Histopathology. 2013 Jun; 62(7):1098-108.
Laura Dosa, Alessandro Malandrini, Ilaria Di Donato, Uros Hladnik, Ilaria Meloni, Francesca Mari, Antonio Federico. Huntington’s disease gene expansion associates with early onset nonprogressive chorea. Mov Disord. 2013 May;28(5):684.
Galla Daniela, de Gemmis Paola, Anesi Laura, Berto Silvia, Dolcetta Diego, Hladnik Uros. An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene. J Mol Neurosci. 2013 Jun;50(2):284-90.
Tosi Giovanni, Bortot Barbara, Ruozi Barbara, Dolcetta Diego, Vandelli Maria Angela, Forni Flavio, Severini Giovanni Maria. Potential Use of Polymeric Nanoparticles for Drug Delivery Across the Blood-Brain Barrier. Curr Med Chem. 2013 Jun 1; 20(17):2212-25.
Anesi L, de Gemmis P, Galla D, Hladnik U. Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions. Nephrol Dial Transplant. 2012 Oct;27 (10):3705-12.
Fusco C, Russo A, Galla D, Hladnik U, Frattini D, Giustina ED. New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy. J Child Neurol. 2013 Dec; 28(12):1694-7.
Tosi G, Bondioli L, Ruozi B, Badiali L, Severini GM, Biffi S, De Vita A, Bortot B, Dolcetta D, Forni F, Vandelli MA. NIR-labeled nanoparticles engineered for brain targeting: in vivo optical imaging application and fluorescent microscopy evidences. J Neural Transm. 2011 Jan; 118(1):145-53.
Grolla E, Andrighetto G, Parmigiani P, Hladnik U, Ferrari G, Bernardelle R, Dal Lago M, Albarello A, Baschirotto G, Filippi G, Lovato R, Dolcetta D. Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes. Disabil Rehabil. 2011; 33(19-20):1837-47.
Anesi L, de Gemmis P, Pandolfo M, Hladnik U. Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS. J. Mol. Neurosci. 2011 Mar; 43(3):346-9.
de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan WL, Hladnik U. Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. Mutat. Res. 2010 Oct 13; 692(1-2):1-5.
Cristini S, Navone S, Canzi L, Acerbi F, Ciusani E, Hladnik U, de Gemmis P, Alessandri G, Colombo A, Parati E, Invernici G. Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects. Hum Mol Genet. 2010 May 15; 19 (10):1939-50.
Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P. A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. Ophthalmic. Genet. 2010 Jun; 31 (2):98-100.
Bedin, Franzé, Zadro, Persico, Ciullo, Dolcetta, Hladnik, Riccardi, Nutile, Andrighetto, D’Adamo, Grasso, Gasparini, Marciano. Age-related hearing loss in four Italian genetic isolates: an epidemiological study. International Journal of Audiology. 2009; 48 (7):465-72.
Stefano Maffè, Fabiana Signorotti, Antonello Perucca, Massimo Bielli, Uros Hladnik, Elena Ragazzoni, Elisabetta Maduli, Paola Baffoni, Pierfranco Dellavesa, Anna Maria Paino, Franco Zenone, Umberto Parravicini, Nicolò Franchetti Pardo, Lorenzo Cucchi and Marco Zanetta. Atypical arrhytmic complications in familial hypokalemic periodic paralysis. Journal of Cardiovasculare Medicine. 2009, 10:68-71.
Hladnik U, Nyhan WL and Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch Neurol 2008; 65(9):1240-3.
d’Adamo Pio, Ulivi Sheila, Benedici Amerigo, Pontoni Gabriele, Papasso Giovambattista, Lanzara Carmela, Andrighetto Gilberto, Hladnik Uros, Nunes Virginia, Palacin Manuel and Gasparini Paolo. Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations. Amino Acids. 2010 Jan;38(1):65-73.
Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA. Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology 2007. 68(13):975-6.
Bertelli M, Cecchin S, Lapucci C, de Gemmis P, Danieli D, D’Amore ESG, Buttalo L, Giunta F, Mortini P, Pandolfo M. Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue. Biochim. Biophys. Acta 2007. Jan; 1772(1):15-20.
Lapucci C, Pomaré Montin D, Pandolfo M and Bertelli M. Real time PCR and linkage studies to identify carriers presenting HPRT deleted gene. Mol Med. 2006 Sep-Oct;12(9-10):246-51.
Bertelli M, Cecchin S, Fabbri A, Lapucci C, Gasparini P. Exclusion of chromosome region 22q12.1-12.3 as a second locus for Costello Syndrome. Panminerva Medica. 2006.Jun;48(2):145-6.
Bertelli M, Cecchin S, Lapucci C, Jacomelli G, Jinnah HA, Pandolfo M, Micheli V. Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease). Clinica Chimica Acta. 2006. 373: 104-107.
Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian BA and Zara F. Clinical and genetic findings in 26 italian patients with Lafora disease. Epilepsia 2006, 47(3): 640-643.
de Gemmis P, Lapucci C, Bertelli M, Tognetto A, Fanin E, Vettor R, Pagano C, Pandolfo M, Fabbri A. A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells. Stem Cells Dev. 2006. Oct; 15(5):719-28.
Bertelli M, Cecchin S, Lorusso L, Sidoti V, Fabbri A, Lapucci C, Buda A, Pandolfo M. Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paraparesis. Panminerva Med. 2006. Sep;48(3):193-7.
Bertelli M, Gallo S, Buda A, Cecchin S, Fabbri A, Lapucci C, Andrighetto G, Sidoti V, Lorusso L, Pandolfo M. Novel mutations in Arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. Journal of Clinical Neuroscience. 2006. May; 13(4):443-8.
Christodoulides C, Scarda A, Granzotto M, Milan G, Dalla Nora E, Keogh J, De Pergola G, Stirling H, Pannacciulli N, Sethi JK, Federspil G, Vidal-Puig A, Faraoni IG, O’Rahilly S, Vettor R. WNT10B mutations in human obesity. Diabetologia. 2006. Apr; 49(4):678-84.
Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, Minassian BA. Lafora Progressive Myoclonus Epilepsy Mutation Database-EPM2A and NHLRC1 (EMP2B) Genes. Hum. Mut. 2005. 26(4): 397-405.
Pagano C, Marin O, Calcagno A, Schiappelli P, Pilon C, Milan G, Bertelli M, Fanin E, Andrighetto G, Federspil G, Vettor R. Increased serum resistin in adults with Prader-Willi Syndrome is related to obesity and not to insulin resistance. J Clin Endocrinol Metab. 2005. Jul; 90(7):4335-40.
D’Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, St Hilaire JM, Kwiecinski H, Andermann E, Pandolfo M. Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology. 2004. Oct 26; 63(8):1500-2.
Gallo S, Randi D, Bertelli M, Salviati A, Pandolfo M. Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. J Neurol Neurosurg Psychiatry. 2004. Apr; 75(4):655-7.
Bertelli M, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. J Inherit Metab Dis. 2004. 27(6):767-73.
Nicolao P, Carella M, Giometto B, Tavolato B, Cattin R, Giovannucci-Uzielli ML, Vacca M, Regione FD, Piva S, Bortoluzzi S, Gasparini P. DHPLC analysis of the MECP2 gene in Italian Rett patients. Hum Mutat. 2001 Aug;18(2):132-40.