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Items: 1 to 50 of 79

1.

BCL11A-Related Intellectual Disability.

Peron A, Bradbury K, Viskochil DH, Dias C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Sep 26.

2.

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.

Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S.

Int J Mol Sci. 2019 Jul 24;20(15). pii: E3621. doi: 10.3390/ijms20153621.

3.

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E.

Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2.

PMID:
31209962
4.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L.

Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17.

PMID:
31207089
5.

Contamination assessment and prediction of 27 trace elements in sediment core from an urban lake associated with land use.

Vieira LM, Neto DM, do Couto EV, Lima GB, Peron AP, Halmeman MCR, Froehner S.

Environ Monit Assess. 2019 Mar 22;191(4):236. doi: 10.1007/s10661-019-7346-y.

PMID:
30903382
6.

In vitro and in vivo evaluation of enzymatic and antioxidant activity, cytotoxicity and genotoxicity of curcumin-loaded solid dispersions.

Silva de Sá I, Peron AP, Leimann FV, Bressan GN, Krum BN, Fachinetto R, Pinela J, Calhelha RC, Barreiro MF, Ferreira ICFR, Gonçalves OH, Ineu RP.

Food Chem Toxicol. 2019 Mar;125:29-37. doi: 10.1016/j.fct.2018.12.037. Epub 2018 Dec 25.

PMID:
30592967
7.

Hot water epilepsy and SYN1 variants.

Peron A, Baratang NV, Canevini MP, Campeau PM, Vignoli A.

Epilepsia. 2018 Nov;59(11):2162-2163. doi: 10.1111/epi.14572. No abstract available.

PMID:
30390306
8.

Tuberous sclerosis complex.

Peron A, Northrup H.

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):274-277. doi: 10.1002/ajmg.c.31657. Epub 2018 Oct 16. No abstract available.

PMID:
30325570
9.

Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.

Peron A, Au KS, Northrup H.

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):281-290. doi: 10.1002/ajmg.c.31651. Epub 2018 Sep 26. Review.

PMID:
30255984
10.

Current concepts on epilepsy management in tuberous sclerosis complex.

Canevini MP, Kotulska-Jozwiak K, Curatolo P, La Briola F, Peron A, Słowińska M, Strzelecka J, Vignoli A, Jóźwiak S.

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):299-308. doi: 10.1002/ajmg.c.31652. Epub 2018 Sep 26. Review.

PMID:
30255982
11.

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex.

Peron A, Canevini MP, Ghelma F, Di Marco F, Vignoli A.

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):355-364. doi: 10.1002/ajmg.c.31653. Epub 2018 Sep 25. Review.

12.

Rhinencephalon changes in tuberous sclerosis complex.

Manara R, Brotto D, Bugin S, Pelizza MF, Sartori S, Nosadini M, Azzolini S, Iaconetta G, Parazzini C, Murgia A, Peron A, Canevini P, Labriola F, Vignoli A, Toldo I.

Neuroradiology. 2018 Aug;60(8):813-820. doi: 10.1007/s00234-018-2045-x. Epub 2018 Jun 17.

PMID:
29909560
13.

Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures.

Savini MN, Mingarelli A, Vignoli A, La Briola F, Chiesa V, Peron A, Mai R, Tassi L, Mastrangelo M, Zambrelli E, Turner K, Canevini MP.

Epilepsy Behav. 2018 Aug;85:14-20. doi: 10.1016/j.yebeh.2018.05.027. Epub 2018 Jun 12.

PMID:
29906696
14.

Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome.

Peron A, Boito S, Rizzuti T, Borzani I, Baccarin M, Bedeschi MF, Lalatta F.

Genet Med. 2018 Nov;20(11):1483-1484. doi: 10.1038/gim.2018.19. No abstract available.

PMID:
29517766
15.

Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.

Peron A, Vignoli A, Briola F, Morenghi E, Tansini L, Alfano RM, Bulfamante G, Terraneo S, Ghelma F, Banderali G, Viskochil DH, Carey JC, Canevini MP; TSC Study Group of the San Paolo Hospital of Milan.

Eur J Med Genet. 2018 Jul;61(7):403-410. doi: 10.1016/j.ejmg.2018.02.005. Epub 2018 Feb 9.

PMID:
29432982
16.

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Słowińska M, Jóźwiak S, Peron A, Borkowska J, Chmielewski D, Sadowski K, Jurkiewicz E, Vignoli A, La Briola F, Canevini MP, Kotulska-Jóźwiak K.

Orphanet J Rare Dis. 2018 Jan 29;13(1):25. doi: 10.1186/s13023-018-0764-z.

17.

Lennox-Gastaut syndrome in adulthood: Long-term clinical follow-up of 38 patients and analysis of their recorded seizures.

Vignoli A, Oggioni G, De Maria G, Peron A, Savini MN, Zambrelli E, Chiesa V, La Briola F, Turner K, Canevini MP.

Epilepsy Behav. 2017 Dec;77:73-78. doi: 10.1016/j.yebeh.2017.09.006. Epub 2017 Nov 7.

PMID:
29126048
18.

Dramatic relapse of seizures after everolimus withdrawal.

Mingarelli A, Vignoli A, La Briola F, Peron A, Giordano L, Banderali G, Canevini MP.

Eur J Paediatr Neurol. 2018 Jan;22(1):203-206. doi: 10.1016/j.ejpn.2017.07.018. Epub 2017 Aug 3.

PMID:
28888335
19.

Toxicity of synthetic flavorings, nature identical and artificial, to hematopoietic tissue cells of rodents.

Sales IMS, Silva JM, Moura ESR, Alves FDS, Silva FCC, Sousa JMC, Peron AP.

Braz J Biol. 2018 May;78(2):306-310. doi: 10.1590/1519-6984.07716. Epub 2017 Aug 17.

20.

Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway?

Di Marco F, Palumbo G, Terraneo S, Imeri G, Lesma E, Sverzellati N, Peron A, Gualandri L, Canevini MP, Centanni S.

BMC Pulm Med. 2017 Jul 28;17(1):107. doi: 10.1186/s12890-017-0447-x.

21.

The influence of heavy metals on toxicogenetic damage in a Brazilian tropical river.

Matos LA, Cunha ACS, Sousa AA, Maranhão JPR, Santos NRS, Gonçalves MMC, Dantas SMMM, Sousa JMCE, Peron AP, Silva FCCD, Alencar MVOB, Islam MT, Aguiar RPS, Melo-Cavalcante AAC, Bonecker CC, Junior HFJ.

Chemosphere. 2017 Oct;185:852-859. doi: 10.1016/j.chemosphere.2017.07.103. Epub 2017 Jul 19.

22.

Assessment of Grape, Plum and Orange Synthetic Food Flavourings Using in vivo Acute Toxicity Tests.

Sales IMS, Barbosa JS, Silva Dos Santos FK, Carneiro da Silva FC, Ferreira PMP, Marcelo de Castro E Sousa J, Peron AP.

Food Technol Biotechnol. 2017 Mar;55(1):131-137. doi: 10.17113/ftb.55.01.17.4770.

23.

Cytotoxicity and genotoxicity of Guaribas river water (Piauí, Brazil), influenced by anthropogenic action.

de Castro E Sousa JM, Peron AP, da Silva E Sousa L, de Moura Holanda M, de Macedo Vieira Lima A, de Oliveira VA, da Silva FCC, de Morais Lima LHG, Matos LA, de Moura Dantas SMM, de Aguiar RPS, Islam MT, de Carvalho Melo-Cavalcante AA, Bonecker CC, Junior HFJ.

Environ Monit Assess. 2017 Jun;189(6):301. doi: 10.1007/s10661-017-6015-2. Epub 2017 May 29.

PMID:
28555439
24.

Physico-chemical and genotoxicity analysis of Guaribas river water in the Northeast Brazil.

de Castro E Sousa JM, Peron AP, da Silva FC, de Siqueira Dantas EB, de Macedo Vieira Lima A, de Oliveira VA, Matos LA, Paz MF, de Alencar MV, Islam MT, de Carvalho Melo-Cavalcante AA, Bonecker CC, Júlio HF Jr.

Chemosphere. 2017 Jun;177:334-338. doi: 10.1016/j.chemosphere.2017.03.010. Epub 2017 Mar 3.

PMID:
28319887
25.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.

Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13.

26.

Determination of Four Nadolol Stereoisomers in Capsules by High-Performance Liquid Chromatography and Circular Dichroism.

Prado Alexandre G, Wandermuren MN, Peron A, Tavares VF, Ramalho Padeiro DA, Sakiara KA, Aurora-Prado MS, Singh AK, Kedor-Hackmann ER, Miritello Santoro MIR.

J AOAC Int. 2017 Jul 1;100(4):1016-1022. doi: 10.5740/jaoacint.16-0292. Epub 2017 Jan 21.

PMID:
28109074
27.

Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome.

Vignoli A, Savini MN, Nowbut MS, Peron A, Turner K, La Briola F, Canevini MP.

Epilepsy Behav. 2017 Jan;66:27-33. doi: 10.1016/j.yebeh.2016.10.006. Epub 2016 Dec 15.

PMID:
27988477
28.

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.

Ronzoni L, Novelli A, Brisighelli G, Peron A, Triulzi F, Bianchi V, Leva E, Bedeschi MF.

Cytogenet Genome Res. 2016;150(1):23-28. doi: 10.1159/000452090. Epub 2016 Dec 3.

PMID:
27915340
29.

Epilepsy in ring chromosome 20 syndrome.

Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP.

Epilepsy Res. 2016 Dec;128:83-93. doi: 10.1016/j.eplepsyres.2016.10.004. Epub 2016 Oct 24.

PMID:
27816898
30.

Tissue responses resulting from tooth movement surgically assisted by corticotomy and corticision in rats.

Peron AP, Johann AC, Papalexiou V, Tanaka OM, Guariza-Filho O, Ignácio SA, Camargo ES.

Angle Orthod. 2017 Jan;87(1):118-124. doi: 10.2319/102915-731.1. Epub 2016 Jun 9.

PMID:
27281474
31.

Are salty liquid food flavorings in vitro antitumor substances?

Carvalho FR, Moura AG, Rodrigues GF, Nunes NM, Lima DJ, Pessoa C, Costa MP, Ferreira PM, Peron AP.

An Acad Bras Cienc. 2016 Sep;88(3):1419-30. doi: 10.1590/0001-3765201620150553.

32.

Antiproliferative and genotoxic effects of nature identical and artificial synthetic food additives of aroma and flavor.

Nunes RD, Sales IM, Silva SI, Sousa JM, Peron AP.

Braz J Biol. 2016 Jul 25;0:0. doi: 10.1590/1519-6984.12115.

33.

Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.

Di Marco F, Terraneo S, Imeri G, Palumbo G, La Briola F, Tresoldi S, Volpi A, Gualandri L, Ghelma F, Alfano RM, Montanari E, Gorio A, Lesma E, Peron A, Canevini MP, Centanni S.

PLoS One. 2016 May 12;11(5):e0155331. doi: 10.1371/journal.pone.0155331. eCollection 2016.

34.

Long-term outcome of epilepsy with onset in the first three years of life: Findings from a large cohort of patients.

Vignoli A, Peron A, Turner K, Scornavacca GF, La Briola F, Chiesa V, Zambrelli E, Canevini MP.

Eur J Paediatr Neurol. 2016 Jul;20(4):566-72. doi: 10.1016/j.ejpn.2016.03.008. Epub 2016 Mar 26.

PMID:
27071723
35.

Do patients with tuberous sclerosis complex have an increased risk for malignancies?

Peron A, Vignoli A, La Briola F, Volpi A, Montanari E, Morenghi E, Ghelma F, Bulfamante G, Cefalo G, Canevini MP.

Am J Med Genet A. 2016 Jun;170(6):1538-44. doi: 10.1002/ajmg.a.37644. Epub 2016 Apr 7.

PMID:
27061015
36.

Antimitotic and antimutagenic action of the Hymenaea stigonocarpa bark on dividing cells.

Santana GM, Deus MS, Sousa JM, Ferreira PM, Fernandes HB, Peron AP.

Braz J Biol. 2016 Jun;76(2):520-5. doi: 10.1590/1519-6984.23014. Epub 2016 Apr 5.

37.

Cytotoxicity of Cheese and Cheddar Cheese food flavorings on Allim cepa L root meristems.

Moura AG, Santana GM, Ferreira PM, Sousa JM, Peron AP.

Braz J Biol. 2016 Jun;76(2):439-43. doi: 10.1590/1519-6984.20514. Epub 2016 Mar 8.

38.

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.

Vignoli A, La Briola F, Peron A, Turner K, Vannicola C, Saccani M, Magnaghi E, Scornavacca GF, Canevini MP.

Orphanet J Rare Dis. 2015 Dec 2;10:154. doi: 10.1186/s13023-015-0371-1.

39.

Counteracting effects on free radicals and histological alterations induced by a fraction with casearins.

Araújo ÉJ, De Oliveira GA, de Sousa LQ, Bolzani Vda S, Cavalheiro AJ, Tome Ada R, Peron AP, dos Santos AG, Citó AM, Pessoa C, de Freitas RM, Ferreira PM.

An Acad Bras Cienc. 2015 Sep;87(3):1791-807. doi: 10.1590/0001-3765201520150149. Epub 2015 Sep 15.

40.

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

Caselli R, Ballarati L, Vignoli A, Peron A, Recalcati MP, Catusi I, Larizza L, Giardino D.

Eur J Med Genet. 2015 Nov;58(11):578-83. doi: 10.1016/j.ejmg.2015.08.003. Epub 2015 Aug 19. Review.

PMID:
26297194
41.

Glioblastoma multiforme in a child with tuberous sclerosis complex.

Vignoli A, Lesma E, Alfano RM, Peron A, Scornavacca GF, Massimino M, Schiavello E, Ancona S, Cerati M, Bulfamante G, Gorio A, Canevini MP.

Am J Med Genet A. 2015 Oct;167A(10):2388-93. doi: 10.1002/ajmg.a.37158. Epub 2015 May 6.

PMID:
25946256
42.

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.

Ronzoni L, Peron A, Bianchi V, Baccarin M, Guerneri S, Silipigni R, Lalatta F, Bedeschi MF.

Am J Med Genet A. 2015 Jul;167(7):1551-9. doi: 10.1002/ajmg.a.37063. Epub 2015 Apr 6.

PMID:
25851921
43.

Cytotoxicity of aqueous extracts of Rosmarinus officinalis L. (Labiatae) in plant test system.

Cardoso GH, Dantas EB, Sousa FR, Peron AP.

Braz J Biol. 2014 Nov;74(4):886-9. doi: 10.1590/1519-6984.07313. Epub 2014 Nov 1.

44.

Effect of Bacillus amyloliquefaciens-based Direct-fed Microbial on Performance, Nutrient Utilization, Intestinal Morphology and Cecal Microflora in Broiler Chickens.

Lei X, Piao X, Ru Y, Zhang H, Péron A, Zhang H.

Asian-Australas J Anim Sci. 2015 Feb;28(2):239-46. doi: 10.5713/ajas.14.0330.

45.

Action of aqueous extracts of Phyllanthus niruri L. (Euphorbiaceae) leaves on meristematic root cells of Allium cepa L.

Neves ES, Ferreira PM, Lima LH, Peron AP.

An Acad Bras Cienc. 2014 Sep;86(3):1131-7. Epub 2014 Aug 4.

46.

Antiproliferative action of aqueous extracts of Hymenaea stigonocarpa Mart. (Fabaceae) on the cell cycle of Allium cepa L.

Lacerda LP, Malaquias G, Peron AP.

An Acad Bras Cienc. 2014 Sep;86(3):1147-50. Epub 2014 Jul 15.

47.

Understanding the reasons for the refusal of cholecystectomy in patients with cholelithiasis: how to help them in their decision?

Peron A, Schliemann AL, Almeida FA.

Arq Bras Cir Dig. 2014 Apr-Jun;27(2):114-9. English, Portuguese.

48.

Prenatal and postnatal findings in five cases of Fryns syndrome.

Peron A, Bedeschi MF, Fabietti I, Baffero GM, Fogliani R, Ciralli F, Mosca F, Rizzuti T, Leva E, Lalatta F.

Prenat Diagn. 2014 Dec;34(12):1227-30. doi: 10.1002/pd.4447. Epub 2014 Jul 22. No abstract available.

PMID:
24996149
49.

Hot water epilepsy: a video case of European boy with positive family history and subsequent non-reflex epilepsy.

Vignoli A, Savini MN, La Briola F, Chiesa V, Zambrelli E, Peron A, Canevini MP.

Epileptic Disord. 2014 Mar;16(1):96-100. doi: 10.1684/epd.2014.0640.

50.

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

Peron A, Spaccini L, Norris J, Bova SM, Selicorni A, Weber G, Wood T, Schwartz CE, Mastrangelo M.

Am J Med Genet A. 2013 Sep;161A(9):2316-20. doi: 10.1002/ajmg.a.36116. Epub 2013 Jul 29. Erratum in: Am J Med Genet A. 2014 Apr;164A(4):1083.

PMID:
23897707

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