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Items: 1 to 50 of 79

1.

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.

2.

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.

PMID:
29685396
3.

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.

PMID:
29571056
4.

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
5.

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.

6.

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.

7.

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.

PMID:
28633043
8.

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
9.

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.

10.

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.

11.

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
12.

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
13.

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.

14.

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
15.

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.

16.

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.

17.

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.

18.

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.

19.

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
20.

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
21.

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
22.

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.

23.

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.

24.

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
25.

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
26.

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.

27.

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.

28.

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
29.

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
30.

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
31.

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.

32.

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
33.

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.

34.

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
35.

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
36.

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
37.

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
38.

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
39.

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
40.

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.

41.

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
42.

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
43.

Tor1/Sch9-regulated carbon source substitution is as effective as calorie restriction in life span extension.

Wei M, Fabrizio P, Madia F, Hu J, Ge H, Li LM, Longo VD.

PLoS Genet. 2009 May;5(5):e1000467. doi: 10.1371/journal.pgen.1000467. Epub 2009 May 8.

44.

Teaching NeuroImage: MRI of diabetic lumbar plexopathy treated with local steroid injection.

Cianfoni A, Luigetti M, Madia F, Conte A, Savino G, Colosimo C, Tonali PA, Sabatelli M.

Neurology. 2009 Feb 10;72(6):e32-3. doi: 10.1212/01.wnl.0000342158.29207.ce. No abstract available.

PMID:
19204255
45.

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Luigetti M, Conte A, Madia F, Mereu ML, Zollino M, Marangi G, Pomponi MG, Liberatore G, Tonali PA, Sabatelli M.

Muscle Nerve. 2008 Aug;38(2):1060-4. doi: 10.1002/mus.21083.

PMID:
18642376
46.

Natural history of young-adult amyotrophic lateral sclerosis.

Sabatelli M, Madia F, Conte A, Luigetti M, Zollino M, Mancuso I, Lo Monaco M, Lippi G, Tonali P.

Neurology. 2008 Sep 16;71(12):876-81. doi: 10.1212/01.wnl.0000312378.94737.45. Epub 2008 Jul 2.

PMID:
18596241
47.

Starvation-dependent differential stress resistance protects normal but not cancer cells against high-dose chemotherapy.

Raffaghello L, Lee C, Safdie FM, Wei M, Madia F, Bianchi G, Longo VD.

Proc Natl Acad Sci U S A. 2008 Jun 17;105(24):8215-20. doi: 10.1073/pnas.0708100105. Epub 2008 Mar 31.

48.

Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.

Madia F, Striano P, Di Bonaventura C, de Falco A, de Falco FA, Manfredi M, Casari G, Striano S, Minetti C, Zara F.

Neurogenetics. 2008 May;9(2):139-42. doi: 10.1007/s10048-008-0118-4. Epub 2008 Jan 30.

PMID:
18231815
49.

Longevity mutation in SCH9 prevents recombination errors and premature genomic instability in a Werner/Bloom model system.

Madia F, Gattazzo C, Wei M, Fabrizio P, Burhans WC, Weinberger M, Galbani A, Smith JR, Nguyen C, Huey S, Comai L, Longo VD.

J Cell Biol. 2008 Jan 14;180(1):67-81. doi: 10.1083/jcb.200707154.

50.

Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy.

Striano P, Coppola A, Madia F, Pezzella M, Ciampa C, Zara F, Striano S.

Epilepsia. 2007 Oct;48(10):1995-8. Epub 2007 Jul 21.

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