Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 40

1.

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A.

Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018.

2.

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

Keogh C, Pini G, Dyer AH, Bigoni S, DiMarco P, Gemo I, Reilly R, Tropea D.

BMC Pediatr. 2018 Oct 19;18(1):333. doi: 10.1186/s12887-018-1304-7.

3.

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

Parmeggiani G, Buldrini B, Fini S, Ferlini A, Bigoni S.

Mol Syndromol. 2018 Jul;9(4):175-181. doi: 10.1159/000489842. Epub 2018 May 30.

4.

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.

Rizzo A, Alfei E, Zibordi F, Saletti V, Zorzi G, Freri E, Estienne M, Girgenti V, D'Arrigo S, Esposito S, Buldrini B, Moroni I, Milani D, Granata T, Ardissone A, Eoli M, Molteni B, Bigoni S, Pantaleoni C, Nardocci N, Sciacca FL.

Am J Med Genet B Neuropsychiatr Genet. 2018 Sep;177(6):557-562. doi: 10.1002/ajmg.b.32649. Epub 2018 Aug 14.

PMID:
30105822
5.

Trend of estimated glomerular filtration rate during ombistasvir/paritaprevir/ritonavir plus dasabuvir ± ribavirin in HIV/HCV co-infected patients.

Taramasso L, Di Biagio A, Bovis F, Nicolini LA, Antinori A, Milazzo L, Sollima S, Gubertini G, Niero F, Saracino A, Bruno R, Borghi V, Montagnani F, Cattelan A, Hasson H, Taliani G, D'Arminio Monforte A, Mastroianni C, Di Perri G, Bigoni S, Puoti M, Spinetti A, Gori A, Boffa N, Cacopardo B, Giacometti A, Parruti G, Vullo V, Chirianni A, Teti E, Pasquazzi C, Segala D, Andreoni M.

PLoS One. 2018 Feb 20;13(2):e0192627. doi: 10.1371/journal.pone.0192627. eCollection 2018.

6.

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

Parmeggiani G, Bigoni S, Buldrini B, Garani G, Clauser L, Galiè M, Ferlini A, Fini S.

Mol Syndromol. 2017 Dec;9(1):30-37. doi: 10.1159/000480159. Epub 2017 Sep 13.

7.

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

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
8.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J.

J Med Genet. 2017 Dec;54(12):830-835. doi: 10.1136/jmedgenet-2017-104748. Epub 2017 Oct 26.

PMID:
29074562
9.

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Bonatti F, Adorni A, Matichecchia A, Mozzoni P, Uliana V, Pisani F, Garavelli L, Graziano C, Gnoli M, Carli D, Bigoni S, Boschi E, Martorana D, Percesepe A.

Int J Mol Sci. 2017 Sep 29;18(10). pii: E2071. doi: 10.3390/ijms18102071.

10.

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

Bigoni S, Mauro A, Ferlini A, Corazzi V, Ciorba A, Aimoni C.

Minerva Pediatr. 2018 Dec;70(6):638-639. doi: 10.23736/S0026-4946.17.04993-3. Epub 2017 Sep 7. No abstract available.

PMID:
28882028
11.

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

Fonderico M, Laudisi M, Andreasi NG, Bigoni S, Lamperti C, Panteghini C, Garavaglia B, Carecchio M, Emanuele EA, Forni GL, Granieri E.

Front Neurol. 2017 Aug 21;8:385. doi: 10.3389/fneur.2017.00385. eCollection 2017.

12.

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

Fusco F, Conte MI, Diociaiuti A, Bigoni S, Branda MF, Ferlini A, El Hachem M, Ursini MV.

Pediatrics. 2017 Sep;140(3). pii: e20162950. doi: 10.1542/peds.2016-2950. Epub 2017 Aug 9.

13.

Ombitasvir/Paritaprevir/Ritonavir and Dasabuvir Combination Treatment in Patients with HIV/HCV Co-Infection: Results of an Italian Compassionate Use Program.

Massimo A, Teti E, Antinori A, Milazzoi L, Sollima S, Rizzardini G, Di Biagio A, Saracino A, Bruno R, Borghi V, De Luca A, Cattelan A, Hasson H, Taliani G, Monforte AD, Mastroianni CM, Di Perri G, Bigoni S, Puoti M, Spinetti A, Gori A, Boffa N, Bruno C, Giacometti A, Parruti G, Vullo V, Chirianni A, Pennica A, Pasquazzi C, Segala D, Sarmati L; SIMIT (Società Italiana di Malattie Infettivee Tropicali).

Clin Infect Dis. 2017 Mar 1;64(5):680-683. doi: 10.1093/cid/ciw846. Epub 2016 Dec 22.

PMID:
28011605
14.

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

Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group, Guerrini R.

Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.

PMID:
27864847
15.

Rett syndrome: a wide clinical and autonomic picture.

Pini G, Bigoni S, Congiu L, Romanelli AM, Scusa MF, Di Marco P, Benincasa A, Morescalchi P, Ferlini A, Bianchi F, Tropea D, Zappella M.

Orphanet J Rare Dis. 2016 Sep 29;11(1):132.

16.

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

Halbach N, Smeets EE, Julu P, Witt-Engerström I, Pini G, Bigoni S, Hansen S, Apartopoulos F, Delamont R, van Roozendaal K, Scusa MF, Borelli P, Candel M, Curfs L.

Am J Med Genet A. 2016 Sep;170(9):2301-9. doi: 10.1002/ajmg.a.37812. Epub 2016 Jun 29.

17.

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

Parmeggiani G, Gualandi F, Selvatici R, Rimessi P, Bigoni S, Taddei Masieri M, Dolcini B, Venturoli A, Cappabianca MP, Ferlini A, Ravani A.

Hemoglobin. 2016 Jun;40(3):187-90. doi: 10.3109/03630269.2016.1148613.

PMID:
27117568
18.

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

Pini G, Congiu L, Benincasa A, DiMarco P, Bigoni S, Dyer AH, Mortimer N, Della-Chiesa A, O'Leary S, McNamara R, Mitchell KJ, Gill M, Tropea D.

Autism Res Treat. 2016;2016:5073078. doi: 10.1155/2016/5073078. Epub 2016 Jan 26.

19.

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.

Severi G, Bernardini L, Briuglia S, Bigoni S, Buldrini B, Magini P, Dentici ML, Cordelli DM, Arrigo T, Franzoni E, Fini S, Italyankina E, Loddo I, Novelli A, Graziano C.

Am J Med Genet A. 2016 Jan;170A(1):162-9. doi: 10.1002/ajmg.a.37346. Epub 2015 Sep 3.

PMID:
26333654
20.

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH.

Am J Med Genet A. 2015 Jul;167(7):1682-3. doi: 10.1002/ajmg.a.36860. Epub 2015 May 5. No abstract available.

PMID:
26097173
21.

Thyroid function in Rett syndrome.

Stagi S, Cavalli L, Congiu L, Scusa MF, Ferlini A, Bigoni S, Benincasa A, Rossi B, Pini G.

Horm Res Paediatr. 2015;83(2):118-25. doi: 10.1159/000370066. Epub 2015 Jan 21.

PMID:
25614013
22.

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

Gualandi F, Bigoni S, Melchiorri L, Buldrini B, Balboni A, Neri M, Armaroli A, Parmeggiani G, Italyankina E, Mauro A, Ravani A, Fini S, Caracciolo S, Ferlini A.

Genet Med. 2014 Oct;16(10):795. doi: 10.1038/gim.2014.103. No abstract available.

23.

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH.

Am J Med Genet A. 2014 Oct;164A(10):2557-66. doi: 10.1002/ajmg.a.36696. Epub 2014 Aug 14. Erratum in: Am J Med Genet A. 2015 Jul;167(7):1682-3.

PMID:
25123255
24.

Contact investigation based on serial interferon-gamma release assays (IGRA) in children from the hematology-oncology ward after exposure to a patient with pulmonary tuberculosis.

Carvalho AC, Schumacher RF, Bigoni S, Soncini E, Notarangelo L, Apostoli A, Bonfanti C, Cirillo D, Mantegani P, Porta F, Comelli M, Matteelli A.

Infection. 2013 Aug;41(4):827-31. doi: 10.1007/s15010-013-0450-y. Epub 2013 Apr 11.

PMID:
23575516
25.

Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy.

Ballardini E, Tarocco A, Marsella M, Bernardoni R, Carandina G, Melandri C, Guerra G, Patella A, Zucchelli M, Ferlini A, Bigoni S, Ravani A, Garani G, Borgna-Pignatti C.

Blood Transfus. 2013 Apr;11(2):245-9. doi: 10.2450/2012.0030-12. Epub 2012 Sep 12.

26.

Visiting relatives and friends (VFR), pregnant, and other vulnerable travelers.

Matteelli A, Carvalho AC, Bigoni S.

Infect Dis Clin North Am. 2012 Sep;26(3):625-35. doi: 10.1016/j.idc.2012.07.003. Review.

PMID:
22963774
27.

Cervical human papillomavirus infection and shedding of human immunodeficiency virus in cervicovaginal fluids: a cross-sectional study.

Fornabaio C, Carvalho AC, Lillo F, Fiore JR, Bergamaschi V, Bigoni S, Puzzi PR, Cristini G, Comelli M, Parisi MR, Matteelli A.

J Acquir Immune Defic Syndr. 2012 Sep 1;61(1):78-82. doi: 10.1097/QAI.0b013e31826327a0.

PMID:
22706294
28.

Lopinavir pharmacokinetic profiles in HIV-infected patients during rifabutin-based anti-mycobacterial therapy.

Matteelli A, Villani P, Carvalho AC, El-Hamad I, Cusato M, Apostoli A, Marcantoni C, Calabresi A, Dal Zoppo S, Bigoni S, Regazzi M.

J Antimicrob Chemother. 2012 Oct;67(10):2470-3. doi: 10.1093/jac/dks218. Epub 2012 Jun 7.

PMID:
22678727
29.

Early tuberculosis treatment monitoring by Xpert(R) MTB/RIF.

Miotto P, Bigoni S, Migliori GB, Matteelli A, Cirillo DM.

Eur Respir J. 2012 May;39(5):1269-71. doi: 10.1183/09031936.00124711. No abstract available.

30.

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group.

Neuropediatrics. 2012 Feb;43(1):37-43. doi: 10.1055/s-0032-1308856. Epub 2012 Mar 19. Erratum in: Neuropediatrics. 2013 Aug;44(4):237.

PMID:
22430159
31.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O.

PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14.

32.

Antenatal screening for mother to child infections in immigrants and residents: the case of toxoplasmosis in northern Italy.

Tomasoni LR, Sosta E, Beltrame A, Rorato G, Bigoni S, Frusca T, Zanardini C, Driul L, Magrini F, Viale P, Castelli F.

J Immigr Minor Health. 2010 Dec;12(6):834-40. doi: 10.1007/s10903-010-9321-0.

PMID:
20140516
33.

Expanding CEP290 mutational spectrum in ciliopathies.

Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025.

34.

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.

Bonaglia MC, Giorda R, Beri S, Bigoni S, Sensi A, Baroncini A, Capucci A, De Agostini C, Gwilliam R, Deloukas P, Dunham I, Zuffardi O.

Eur J Hum Genet. 2009 Apr;17(4):426-33. doi: 10.1038/ejhg.2008.195. Epub 2008 Oct 15.

35.

Imported Chikungunya Infection, Italy.

Beltrame A, Angheben A, Bisoffi Z, Monteiro G, Marocco S, Calleri G, Lipani F, Gobbi F, Canta F, Castelli F, Gulletta M, Bigoni S, Del Punta V, Iacovazzi T, Romi R, Nicoletti L, Ciufolini MG, Rorato G, Negri C, Viale P.

Emerg Infect Dis. 2007 Aug;13(8):1264-6. No abstract available.

36.

QuantiFERON-TB Gold test in the identification of latent tuberculosis infection in immigrants.

Carvalho AC, Pezzoli MC, El-Hamad I, Arce P, Bigoni S, Scarcella C, Indelicato AM, Scolari C, Carosi G, Matteelli A.

J Infect. 2007 Aug;55(2):164-8. Epub 2007 Apr 10.

PMID:
17428542
37.

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

Falco M, Scuderi C, Musumeci S, Sturnio M, Neri M, Bigoni S, Caniatti L, Fichera M.

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

PMID:
15482961
38.

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M.

Neurology. 2004 Sep 28;63(6):1108-10. Review.

PMID:
15452312
39.

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.

Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M.

Brain Dev. 2001 Dec;23 Suppl 1:S246-50. Erratum in: Brain Dev. 2012 Nov;34(10):891.

PMID:
11738884
40.

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M.

J Mol Med (Berl). 2001;78(11):648-55.

PMID:
11269512

Supplemental Content

Loading ...
Support Center