Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 87

1.

Early onset PFAPA-like syndrome in a child with microduplication of the 7q11.23.

Papa R, Dell'Orso G, Caorsi R, Madia F, Falcini F, Picco P.

Clin Exp Rheumatol. 2019 Jul 2. [Epub ahead of print] No abstract available.

PMID:
31287399
2.

Carcinogenicity assessment: Addressing the challenges of cancer and chemicals in the environment.

Madia F, Worth A, Whelan M, Corvi R.

Environ Int. 2019 Jul;128:417-429. doi: 10.1016/j.envint.2019.04.067. Epub 2019 May 9. Review.

3.

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.

Bernardo P, Del Gaudio L, Madia F, Riccio MP, Marino M, Santoro C, Caccavale C, Striano S, Bravaccio C, Coppola A.

Neurocase. 2019 Feb - Apr;25(1-2):62-65. doi: 10.1080/13554794.2019.1602144. Epub 2019 Apr 16.

PMID:
30991884
4.

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines.

Gasparini Y, Montenegro MM, Novo-Filho GM, Ceroni JRM, Honjo RS, Zanardo ÉA, Dias AT, Nascimento AM, Costa TVMM, Madia FA, Chehimi SN, Damasceno JG, Kim CA, Kulikowski LD.

Cytogenet Genome Res. 2019;157(3):153-157. doi: 10.1159/000498836. Epub 2019 Apr 2.

PMID:
30933946
5.

Diagnostic implications of genetic copy number variation in epilepsy plus.

Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djémié T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium.

Epilepsia. 2019 Apr;60(4):689-706. doi: 10.1111/epi.14683. Epub 2019 Mar 13.

6.

The metabolic fingerprints of HCV and HBV infections studied by Nuclear Magnetic Resonance Spectroscopy.

Meoni G, Lorini S, Monti M, Madia F, Corti G, Luchinat C, Zignego AL, Tenori L, Gragnani L.

Sci Rep. 2019 Mar 11;9(1):4128. doi: 10.1038/s41598-019-40028-4.

7.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T.

Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4.

PMID:
30719712
8.

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.

Ceroni JRM, Dutra RL, Honjo RS, Llerena JC Jr, Acosta AX, Medeiros PFV, Galera MF, Zanardo ÉA, Piazzon FB, Dias AT, Novo-Filho GM, Montenegro MM, Madia FAR, Bertola DR, de Melo JB, Kulikowski LD, Kim CA.

Sci Rep. 2018 Sep 6;8(1):13382. doi: 10.1038/s41598-018-31754-2.

9.

Gestational Tubal Choriocarcinoma Presenting as a Pregnancy of Unknown Location following Ovarian Induction.

Lin LH, Fushida K, Hase EA, Schultz R, Tenorio LM, Madia FAR, Zanardo EA, Kulikowski LD, Francisco RPV.

Case Rep Obstet Gynecol. 2018 May 3;2018:4705192. doi: 10.1155/2018/4705192. eCollection 2018.

10.

Erratum to "De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy" [Seizure 57 (2018) 63-65].

Vari MS, Traverso M, Bellini T, Madia F, Pinto F, Striano P, Minetti C, Zara F.

Seizure. 2018 Apr;57:R1. doi: 10.1016/j.seizure.2018.04.003. No abstract available.

11.

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Stella Vari M, Traverso M, Bellini T, Madia F, Pinto F, Striano P, Minetti C, Zara F.

Seizure. 2018 Apr;57:63-65. doi: 10.1016/j.seizure.2018.02.011. Epub 2018 Mar 2. Retraction in: Seizure. 2018 Apr;57:R1.

12.

Clinical and molecular consequences of exon 78 deletion in DMD gene.

Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C.

J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19.

PMID:
29556034
13.

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.

Zanardo ÉA, Dutra RL, Piazzon FB, Dias AT, Novo-Filho GM, Nascimento AM, Montenegro MM, Damasceno JG, Madia FAR, da Costa TVMM, Melaragno MI, Kim CA, Kulikowski LD.

Clinics (Sao Paulo). 2017 Oct;72(9):526-537. doi: 10.6061/clinics/2017(09)02.

14.

Moving forward in carcinogenicity assessment: Report of an EURL ECVAM/ESTIV workshop.

Corvi R, Madia F, Guyton KZ, Kasper P, Rudel R, Colacci A, Kleinjans J, Jennings P.

Toxicol In Vitro. 2017 Dec;45(Pt 3):278-286. doi: 10.1016/j.tiv.2017.09.010. Epub 2017 Sep 12.

15.

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Vari MS, Traverso M, Bellini T, Madia F, Pinto F, Minetti C, Striano P, Zara F.

Seizure. 2017 Aug;50:80-82. doi: 10.1016/j.seizure.2017.06.011. Epub 2017 Jun 15.

16.

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V.

Birth Defects Res. 2017 Jul 3;109(11):866-868. doi: 10.1002/bdr2.1032. Epub 2017 May 2.

PMID:
28464487
17.

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.

Maini I, Ivanovski I, Iodice A, Rosato S, Pollazzon M, Mussini M, Belligni EF, Coutton C, Marinelli M, Barbieri V, Napoli M, Pascarella R, Sartori C, Madia F, Fusco C, Franchi F, Street ME, Garavelli L.

Mol Syndromol. 2016 Nov;7(6):337-343. Epub 2016 Oct 14.

18.

In vitro genotoxicity testing-Can the performance be enhanced?

Corvi R, Madia F.

Food Chem Toxicol. 2017 Aug;106(Pt B):600-608. doi: 10.1016/j.fct.2016.08.024. Epub 2016 Aug 21. Review.

19.

Post-mortem cytogenomic investigations in patients with congenital malformations.

Dias AT, Zanardo ÉA, Dutra RL, Piazzon FB, Novo-Filho GM, Montenegro MM, Nascimento AM, Rocha M, Madia FA, Costa TV, Milani C, Schultz R, Gonçalves FT, Fridman C, Yamamoto GL, Bertola DR, Kim CA, Kulikowski LD.

Exp Mol Pathol. 2016 Aug;101(1):116-23. doi: 10.1016/j.yexmp.2016.07.003. Epub 2016 Jul 20.

PMID:
27450648
20.

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

Bernardo P, Madia F, Santulli L, Del Gaudio L, Caccavale C, Zara F, Traverso M, Cirillo M, Striano S, Coppola A.

Brain Dev. 2016 Aug;38(7):663-8. doi: 10.1016/j.braindev.2016.02.002. Epub 2016 Feb 17.

PMID:
26897099
21.

Updated recommended lists of genotoxic and non-genotoxic chemicals for assessment of the performance of new or improved genotoxicity tests.

Kirkland D, Kasper P, Martus HJ, Müller L, van Benthem J, Madia F, Corvi R.

Mutat Res Genet Toxicol Environ Mutagen. 2016 Jan 1;795:7-30. doi: 10.1016/j.mrgentox.2015.10.006. Epub 2015 Nov 4.

22.

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

Papa R, Madia F, Bartolomeo D, Trucco F, Pedemonte M, Traverso M, Broda P, Bruno C, Zara F, Minetti C, Fiorillo C.

Pediatr Neurol. 2016 Feb;55:58-63. doi: 10.1016/j.pediatrneurol.2015.11.004. Epub 2015 Nov 26.

PMID:
26718981
23.

Can in vitro mammalian cell genotoxicity test results be used to complement positive results in the Ames test and help predict carcinogenic or in vivo genotoxic activity? II. Construction and analysis of a consolidated database.

Kirkland D, Zeiger E, Madia F, Corvi R.

Mutat Res Genet Toxicol Environ Mutagen. 2014 Dec;775-776:69-80. doi: 10.1016/j.mrgentox.2014.10.006. Epub 2014 Oct 23.

24.

Can in vitro mammalian cell genotoxicity test results be used to complement positive results in the Ames test and help predict carcinogenic or in vivo genotoxic activity? I. Reports of individual databases presented at an EURL ECVAM Workshop.

Kirkland D, Zeiger E, Madia F, Gooderham N, Kasper P, Lynch A, Morita T, Ouedraogo G, Parra Morte JM, Pfuhler S, Rogiers V, Schulz M, Thybaud V, van Benthem J, Vanparys P, Worth A, Corvi R.

Mutat Res Genet Toxicol Environ Mutagen. 2014 Dec;775-776:55-68. doi: 10.1016/j.mrgentox.2014.10.005. Epub 2014 Oct 23.

25.

Tor-Sch9 deficiency activates catabolism of the ketone body-like acetic acid to promote trehalose accumulation and longevity.

Hu J, Wei M, Mirzaei H, Madia F, Mirisola M, Amparo C, Chagoury S, Kennedy B, Longo VD.

Aging Cell. 2014 Jun;13(3):457-67. doi: 10.1111/acel.12202. Epub 2014 Mar 20.

26.

Low protein intake is associated with a major reduction in IGF-1, cancer, and overall mortality in the 65 and younger but not older population.

Levine ME, Suarez JA, Brandhorst S, Balasubramanian P, Cheng CW, Madia F, Fontana L, Mirisola MG, Guevara-Aguirre J, Wan J, Passarino G, Kennedy BK, Wei M, Cohen P, Crimmins EM, Longo VD.

Cell Metab. 2014 Mar 4;19(3):407-17. doi: 10.1016/j.cmet.2014.02.006.

27.

Case of postpartum Parsonage-Turner syndrome.

Nociti V, Monforte M, Perna A, Madia F, Melchiorri G, Mirabella M.

Muscle Nerve. 2014 Feb;49(2):294-5. doi: 10.1002/mus.24073. Epub 2013 Dec 3. No abstract available.

PMID:
24037750
28.

Clinical and pathological heterogeneity in a series of 31 patients with IgM-related neuropathy.

Luigetti M, Conte A, Montano N, Del Grande A, Madia F, Lo Monaco M, Laurenti L, Sabatelli M.

J Neurol Sci. 2012 Aug 15;319(1-2):75-80. doi: 10.1016/j.jns.2012.05.012. Epub 2012 May 25.

PMID:
22632783
29.

TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.

Luigetti M, Conte A, Del Grande A, Bisogni G, Madia F, Lo Monaco M, Laurenti L, Obici L, Merlini G, Sabatelli M.

Neurol Sci. 2013 Jul;34(7):1057-63. doi: 10.1007/s10072-012-1105-y. Epub 2012 May 17.

PMID:
22592564
30.

Updates from the Intestinal Front Line: Autophagic Weapons against Inflammation and Cancer.

Madia F, Grossi V, Peserico A, Simone C.

Cells. 2012 Aug 21;1(3):535-57. doi: 10.3390/cells1030535.

31.

Studying age-dependent genomic instability using the S. cerevisiae chronological lifespan model.

Wei M, Madia F, Longo VD.

J Vis Exp. 2011 Sep 29;(55). pii: 3030. doi: 10.3791/3030.

32.

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation.

Del Grande A, Conte A, Lattante S, Luigetti M, Marangi G, Zollino M, Madia F, Bisogni G, Sabatelli M.

J Neurol Sci. 2011 Oct 15;309(1-2):31-3. doi: 10.1016/j.jns.2011.07.041. Epub 2011 Aug 11.

PMID:
21839474
33.

Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS.

Sabatelli M, Zollino M, Luigetti M, Grande AD, Lattante S, Marangi G, Monaco ML, Madia F, Meleo E, Bisogni G, Conte A.

Amyotroph Lateral Scler. 2011 Jul;12(4):278-82. doi: 10.3109/17482968.2011.580849.

PMID:
21702734
34.

Growth hormone receptor deficiency is associated with a major reduction in pro-aging signaling, cancer, and diabetes in humans.

Guevara-Aguirre J, Balasubramanian P, Guevara-Aguirre M, Wei M, Madia F, Cheng CW, Hwang D, Martin-Montalvo A, Saavedra J, Ingles S, de Cabo R, Cohen P, Longo VD.

Sci Transl Med. 2011 Feb 16;3(70):70ra13. doi: 10.1126/scitranslmed.3001845.

35.

Neuropathy with predominant small fiber involvement associated with abnormal anti-MAG titer.

Luigetti M, Madia F, Conte A, Tonali P, Sabatelli M.

Intern Med. 2010;49(23):2627-9. Epub 2010 Dec 1.

36.

Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy.

Luigetti M, Conte A, Madia F, Modoni A, Montano N, Lauriola L, Tasca G, Del Grande A, Tonali PA, Sabatelli M.

Neuropathology. 2011 Apr;31(2):197-8. doi: 10.1111/j.1440-1789.2010.01179.x. Epub 2010 Dec 6. No abstract available.

PMID:
21134003
37.

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Del Grande A, Tasca G, Tonali PA, Sabatelli M.

J Neurol Sci. 2010 Nov 15;298(1-2):114-7. doi: 10.1016/j.jns.2010.09.008. Epub 2010 Sep 25.

PMID:
20870250
38.

Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.

Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Delgrande A, Tonali PA, Sabatelli M.

Muscle Nerve. 2010 Sep;42(3):448-51. doi: 10.1002/mus.21734.

PMID:
20806400
39.

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F.

Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19.

40.

Light chain deposition in peripheral nerve as a cause of mononeuritis multiplex in Waldenström's macroglobulinaemia.

Luigetti M, Frisullo G, Laurenti L, Conte A, Madia F, Profice P, Batocchi AP, Montano N, Tarnani M, Tonali PA, Sabatelli M.

J Neurol Sci. 2010 Apr 15;291(1-2):89-91. doi: 10.1016/j.jns.2010.01.018. Epub 2010 Feb 10.

PMID:
20149395
41.

Reduced levels of IGF-I mediate differential protection of normal and cancer cells in response to fasting and improve chemotherapeutic index.

Lee C, Safdie FM, Raffaghello L, Wei M, Madia F, Parrella E, Hwang D, Cohen P, Bianchi G, Longo VD.

Cancer Res. 2010 Feb 15;70(4):1564-72. doi: 10.1158/0008-5472.CAN-09-3228. Epub 2010 Feb 9.

42.

Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease.

Canafoglia L, Ciano C, Visani E, Anversa P, Panzica F, Viri M, Gennaro E, Zara F, Madia F, Franceschetti S.

Epilepsy Res. 2010 May;89(2-3):232-7. doi: 10.1016/j.eplepsyres.2010.01.006. Epub 2010 Feb 1.

PMID:
20117916
43.

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.

Luigetti M, Pizzuti A, Bartoletti S, Houlden H, Pirro C, Bottillo I, Madia F, Conte A, Tonali PA, Sabatelli M.

J Neurol Sci. 2010 Mar 15;290(1-2):150-2. doi: 10.1016/j.jns.2009.12.005. Epub 2010 Jan 6.

PMID:
20051279
44.

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

Luigetti M, Madia F, Conte A, Marangi G, Zollino M, Del Grande A, Dileone M, Tonali PA, Sabatelli M.

Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):479-82. doi: 10.3109/17482960802302261.

PMID:
19922144
45.

Neurologic improvement after peripheral blood stem cell transplantation in poems.

Sabatelli M, Luigetti M, Laurenti L, Conte A, Madia F, De Matteis S, Chiusolo P, Tarnani M, Sica S.

Neurology. 2009 Oct 6;73(14):1165; author reply 1165-6. doi: 10.1212/WNL.0b013e3181b26ff7. No abstract available.

PMID:
19805738
46.

Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia.

Della Marca G, Dittoni S, Catteruccia M, Frusciante R, Madia F, Losurdo A, Testani E, Vollono C, Servidei S.

Neurology. 2009 Aug 25;73(8):643-5. doi: 10.1212/WNL.0b013e3181b38995. No abstract available.

PMID:
19704085
47.

pSTAT1, pSTAT3, and T-bet as markers of disease activity in chronic inflammatory demyelinating polyradiculoneuropathy.

Madia F, Frisullo G, Nociti V, Conte A, Luigetti M, Del Grande A, Patanella AK, Iorio R, Tonali PA, Batocchi AP, Sabatelli M.

J Peripher Nerv Syst. 2009 Jun;14(2):107-17. doi: 10.1111/j.1529-8027.2009.00220.x.

PMID:
19691533
48.

Oncogene homologue Sch9 promotes age-dependent mutations by a superoxide and Rev1/Polzeta-dependent mechanism.

Madia F, Wei M, Yuan V, Hu J, Gattazzo C, Pham P, Goodman MF, Longo VD.

J Cell Biol. 2009 Aug 24;186(4):509-23. doi: 10.1083/jcb.200906011. Epub 2009 Aug 17.

49.

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.

Luigetti M, Conte A, Madia F, Marangi G, Zollino M, Mancuso I, Dileone M, Del Grande A, Di Lazzaro V, Tonali PA, Sabatelli M.

Neurol Sci. 2009 Dec;30(6):517-20. doi: 10.1007/s10072-009-0125-8. Epub 2009 Aug 15.

PMID:
19685200
50.

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

Sabatelli M, Eusebi F, Al-Chalabi A, Conte A, Madia F, Luigetti M, Mancuso I, Limatola C, Trettel F, Sobrero F, Di Angelantonio S, Grassi F, Di Castro A, Moriconi C, Fucile S, Lattante S, Marangi G, Murdolo M, Orteschi D, Del Grande A, Tonali P, Neri G, Zollino M.

Hum Mol Genet. 2009 Oct 15;18(20):3997-4006. doi: 10.1093/hmg/ddp339. Epub 2009 Jul 23.

PMID:
19628475

Supplemental Content

Support Center