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Items: 1 to 50 of 68

1.

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease.

Neurology. 2018 May 11. pii: 10.1212/WNL.0000000000005660. doi: 10.1212/WNL.0000000000005660. [Epub ahead of print]

PMID:
29752303
2.

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Lucchetti L, Prontera P, Mencarelli A, Sallicandro E, Mencarelli A, Cofini M, Leonardi A, Stangoni G, Penta L, Esposito S.

Front Endocrinol (Lausanne). 2018 Apr 10;9:163. doi: 10.3389/fendo.2018.00163. eCollection 2018.

3.

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

Cavicchi C, Chilleri C, Fioravanti A, Ferri L, Ripandelli F, Costa C, Calabresi P, Prontera P, Pochiero F, Pasquini E, Funghini S, la Marca G, Donati MA, Morrone A.

Int J Mol Sci. 2018 Jan 24;19(2). pii: E345. doi: 10.3390/ijms19020345.

4.

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

Marini C, Romoli M, Parrini E, Costa C, Mei D, Mari F, Parmeggiani L, Procopio E, Metitieri T, Cellini E, Virdò S, De Vita D, Gentile M, Prontera P, Calabresi P, Guerrini R.

Neurol Genet. 2017 Dec 11;3(6):e206. doi: 10.1212/NXG.0000000000000206. eCollection 2017 Dec.

5.

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Mencarelli A, Prontera P, Stangoni G, Mencaroni E, Principi N, Esposito S.

Int J Mol Sci. 2017 Oct 29;18(11). pii: E2273. doi: 10.3390/ijms18112273.

6.

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250.

PMID:
28938448
7.

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Prontera P, Rogaia D, Mencarelli A, Ottaviani V, Sallicandro E, Guercini G, Esposito S, Bersano A, Merla G, Stangoni G.

Int J Mol Sci. 2017 Sep 17;18(9). pii: E1998. doi: 10.3390/ijms18091998.

8.

Migraine and epilepsy: what value today?

Costa C, Prontera P, Caproni S, Cupini LM, Sarchielli P, Calabresi P.

J Headache Pain. 2015 Dec;16(Suppl 1):A44. doi: 10.1186/1129-2377-16-S1-A44. No abstract available.

9.

Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.

Prontera P, Sarchielli P, Caproni S, Bedetti C, Cupini LM, Calabresi P, Costa C.

Cephalalgia. 2018 Feb;38(2):361-373. doi: 10.1177/0333102416686347. Epub 2017 Jan 6.

PMID:
28058944
10.

A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.

Prontera P, Isidori I, Mencarini V, Pennoni G, Mencarelli A, Stangoni G, Di Cara G, Verrotti A.

Public Health Genomics. 2016;19(6):336-341. doi: 10.1159/000450849. Epub 2016 Oct 12.

PMID:
27728908
11.

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.

Cassone M, Ferradini V, Longo G, Sarchielli P, Murasecco D, Romoli M, Pasquini E, Novelli G, Prontera P, Sangiuolo F.

Muscle Nerve. 2017 Jun;55(6):E24-E25. doi: 10.1002/mus.25407. Epub 2017 Mar 26. No abstract available.

PMID:
27639085
12.

A novel MED12 mutation: Evidence for a fourth phenotype.

Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G.

Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Review.

PMID:
27312080
13.

A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.

Tambasco N, Nigro P, Romoli M, Prontera P, Simoni S, Calabresi P.

J Neural Transm (Vienna). 2016 Nov;123(11):1301-1307. Epub 2016 Jun 1. Review.

PMID:
27250986
14.

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Apr 21;8:40. doi: 10.1186/s13148-016-0206-5. eCollection 2016. No abstract available.

15.

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8. eCollection 2016. Erratum in: Clin Epigenetics. 2016;8:40.

16.

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.

de Filippis T, Marelli F, Nebbia G, Porazzi P, Corbetta S, Fugazzola L, Gastaldi R, Vigone MC, Biffanti R, Frizziero D, Mandarà L, Prontera P, Salerno M, Maghnie M, Tiso N, Radetti G, Weber G, Persani L.

J Clin Endocrinol Metab. 2016 Mar;101(3):861-70. doi: 10.1210/jc.2015-3403. Epub 2016 Jan 13.

PMID:
26760175
17.

Research Progresses in Understanding the Pathophysiology of Moyamoya Disease.

Bersano A, Guey S, Bedini G, Nava S, Hervé D, Vajkoczy P, Tatlisumak T, Sareela M, van der Zwan A, Klijn CJ, Braun KP, Kronenburg A, Acerbi F, Brown MM, Calviere L, Cordonnier C, Henon H, Thines L, Khan N, Czabanka M, Kraemer M, Simister R, Prontera P, Tournier-Lasserve E, Parati E; European Moyamoya Disease Initiative.

Cerebrovasc Dis. 2016;41(3-4):105-18. doi: 10.1159/000442298. Epub 2016 Jan 12. Review.

18.

MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION.

Ottaviani V, Bartocci A, Pantaleo M, Giglio S, Cecconi M, Verrotti A, Merla G, Stangoni G, Prontera P.

Genet Couns. 2015;26(3):327-32.

PMID:
26625664
19.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.

J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.

PMID:
26475597
20.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B.

J Clin Invest. 2015 Sep;125(9):3585-99. doi: 10.1172/JCI80102. Epub 2015 Aug 17.

21.

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

Prontera P, Micale L, Verrotti A, Napolioni V, Stangoni G, Merla G.

Hum Mutat. 2015 Nov;36(11):1043-7. doi: 10.1002/humu.22853. Epub 2015 Aug 24.

PMID:
26252249
22.

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.

Funnell AP, Prontera P, Ottaviani V, Piccione M, Giambona A, Maggio A, Ciaffoni F, Stehling-Sun S, Marra M, Masiello F, Varricchio L, Stamatoyannopoulos JA, Migliaccio AR, Papayannopoulou T.

Blood. 2015 Jul 2;126(1):89-93. doi: 10.1182/blood-2015-04-638528. Epub 2015 May 27.

23.

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C.

Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25.

PMID:
25805166
24.

Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1.

Romani R, Pirisinu I, Calvitti M, Pallotta MT, Gargaro M, Bistoni G, Vacca C, Di Michele A, Orabona C, Rosati J, Pirro M, Giovagnoli S, Matino D, Prontera P, Rosi G, Grohmann U, Talesa VN, Donti E, Puccetti P, Fallarino F.

J Cell Mol Med. 2015 Jul;19(7):1593-605. doi: 10.1111/jcmm.12534. Epub 2015 Mar 17.

25.

A genetic-demographic approach reveals a gender-specific association of SLC6A3/DAT1 40 bp-VNTR with life-expectancy.

Hadi F, Dato S, Carpi FM, Prontera P, Crucianelli F, Renda F, Passarino G, Napolioni V.

Biogerontology. 2015 Jun;16(3):365-73. doi: 10.1007/s10522-015-9552-5. Epub 2015 Jan 24.

PMID:
25617181
26.

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

Adamo A, Atashpaz S, Germain PL, Zanella M, D'Agostino G, Albertin V, Chenoweth J, Micale L, Fusco C, Unger C, Augello B, Palumbo O, Hamilton B, Carella M, Donti E, Pruneri G, Selicorni A, Biamino E, Prontera P, McKay R, Merla G, Testa G.

Nat Genet. 2015 Feb;47(2):132-41. doi: 10.1038/ng.3169. Epub 2014 Dec 15.

PMID:
25501393
27.

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.

Tokita MJ, Chow PM, Mirzaa G, Dikow N, Maas B, Isidor B, Le Caignec C, Penney LS, Mazzotta G, Bernardini L, Filippi T, Battaglia A, Donti E, Earl D, Prontera P.

Eur J Hum Genet. 2015 Jun;23(6):761-5. doi: 10.1038/ejhg.2014.202. Epub 2014 Oct 1.

28.

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.

Prontera P, Ottaviani V, Toccaceli D, Rogaia D, Ardisia C, Romani R, Stangoni G, Pierini A, Donti E.

Am J Med Genet A. 2014 Dec;164A(12):3137-41. doi: 10.1002/ajmg.a.36741. Epub 2014 Sep 24.

PMID:
25257502
29.

Hypothesis: gonadal temperature influences sex-specific imprinting.

Prontera P, Donti E.

Front Genet. 2014 Aug 25;5:294. doi: 10.3389/fgene.2014.00294. eCollection 2014.

30.

DPP6 gene disruption in a family with Gilles de la Tourette syndrome.

Prontera P, Napolioni V, Ottaviani V, Rogaia D, Fusco C, Augello B, Serino D, Parisi V, Bernardini L, Merla G, Cavanna AE, Donti E.

Neurogenetics. 2014 Oct;15(4):237-42. doi: 10.1007/s10048-014-0418-9. Epub 2014 Aug 17.

PMID:
25129042
31.

Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.

Prontera P, Serino D, Caldini B, Scarponi L, Merla G, Testa G, Muti M, Napolioni V, Mazzotta G, Piccirilli M, Donti E.

J Autism Dev Disord. 2014 Oct;44(10):2608-13. doi: 10.1007/s10803-014-2117-7.

PMID:
24722762
32.

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G.

Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9.

33.

Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.

Tambasco N, Belcastro V, Prontera P, Nigro P, Donti E, Rossi A, Calabresi P.

Eur J Paediatr Neurol. 2014 Jul;18(4):453-7. doi: 10.1016/j.ejpn.2014.02.001. Epub 2014 Feb 15. Review.

PMID:
24594427
34.

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

Costa C, Prontera P, Sarchielli P, Tonelli A, Bassi MT, Cupini LM, Caproni S, Siliquini S, Donti E, Calabresi P.

Cephalalgia. 2014 Jan;34(1):68-72. doi: 10.1177/0333102413498941. Epub 2013 Aug 5.

PMID:
23918834
35.

Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?

Prontera P, Bartocci A, Ottaviani V, Isidori I, Rogaia D, Ardisia C, Guercini G, Mencarelli A, Donti E.

Mol Syndromol. 2013 Apr;4(4):197-202. doi: 10.1159/000350040. Epub 2013 Apr 11.

36.

Xq12-q13.3 duplication: evidence of a recurrent syndrome.

Prontera P, Ottaviani V, Isidori I, Stangoni G, Donti E.

Ann Neurol. 2012 Nov;72(5):821-2; author reply 822-3. doi: 10.1002/ana.23754. No abstract available.

PMID:
23280798
37.

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G.

Mol Genet Metab. 2012 Nov;107(3):627-9. doi: 10.1016/j.ymgme.2012.06.019. Epub 2012 Jul 6.

PMID:
22840376
38.

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR.

Am J Med Genet A. 2012 Sep;158A(9):2091-9. doi: 10.1002/ajmg.a.35446. Epub 2012 Jul 20.

PMID:
22821852
39.

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.

Prontera P, Urciuoli R, Siliquini S, Macone S, Stangoni G, Donti E, Cantisani TA, Elia M, Belcastro V.

Am J Med Genet A. 2011 Dec;155A(12):3125-7. doi: 10.1002/ajmg.a.34295. Epub 2011 Nov 3. No abstract available.

PMID:
22052670
40.

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E.

Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11.

PMID:
21990121
41.

Deletion 2p15-16.1 syndrome: case report and review.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Romani R, Ardisia C, Dallapiccola B, Donti E.

Am J Med Genet A. 2011 Oct;155A(10):2473-8. doi: 10.1002/ajmg.a.33875. Epub 2011 Sep 9. Review.

PMID:
21910216
42.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.

Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38.

43.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review.

Prontera P, Clerici G, Bernardini L, Schippa M, Capalbo A, Manes I, Giuffrida MG, Barbieri MG, Ardisia C, Donti E.

Genet Couns. 2011;22(1):41-8. Review.

PMID:
21614987
44.

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.

Prontera P, Rogaia D, Sobacchi C, Tavares VL, Mazzotta G, Passos-Bueno MR, Donti E.

Am J Med Genet A. 2011 May;155A(5):1106-8. doi: 10.1002/ajmg.a.33826. Epub 2011 Apr 4.

PMID:
21465646
45.

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Prontera P, Stangoni G, Ardisia C, Rogaia D, Mencarelli A, Donti E.

Am J Med Genet A. 2011 Apr;155A(4):928-30. doi: 10.1002/ajmg.a.33817. Epub 2011 Mar 17. No abstract available.

PMID:
21416586
46.

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline.

Castrioto A, Prontera P, Di Gregorio E, Rossi V, Parnetti L, Rossi A, Donti E, Brusco A, Calabresi P, Tambasco N.

Eur J Neurol. 2011 Oct;18(10):1263-5. doi: 10.1111/j.1468-1331.2011.03366.x. Epub 2011 Mar 7.

PMID:
21382133
47.

Induction of epileptic negative myoclonus by addition of lacosamide to carbamazepine.

Belcastro V, Arnaboldi M, Taborelli A, Prontera P.

Epilepsy Behav. 2011 Mar;20(3):589-90. doi: 10.1016/j.yebeh.2011.01.022. Epub 2011 Mar 1. No abstract available.

PMID:
21367668
48.

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.

Cavani S, Prontera P, Grasso M, Ardisia C, Malacarne M, Gradassi C, Cecconi M, Mencarelli A, Donti E, Pierluigi M.

Am J Med Genet A. 2011 Jan;155A(1):221-4. doi: 10.1002/ajmg.a.33515. Epub 2010 Dec 10. No abstract available.

PMID:
21204236
49.

Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia.

Prontera P, Pantaleoni F, Martinelli S, Mastrodicasa E, Stangoni G, Barboni G, Tartaglia M, Aversa F, Donti E.

Leuk Res. 2011 Mar;35(3):e13-4. doi: 10.1016/j.leukres.2010.10.024. Epub 2010 Nov 23. No abstract available.

PMID:
21106241
50.

Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease.

Belcastro V, Galletti F, Giuglietti M, Messina S, Elia M, Prontera P, Calabresi P.

Epilepsy Behav. 2010 Dec;19(4):666-8. doi: 10.1016/j.yebeh.2010.09.010. Epub 2010 Oct 12. No abstract available.

PMID:
20934392

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