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Items: 1 to 20 of 80

1.

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.

2.

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.

3.

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
4.

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
5.

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
6.

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.

7.

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.

8.

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.

9.

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
10.

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.

11.

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.

12.

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
13.

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
14.

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.

15.

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
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? 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.

17.

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.

18.

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.

19.

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.

20.

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

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