Mancardi M - Search Results

1

17q23.3 de novo microdeletion involving only TANC2 gene: A new case.

Tassano E, Accogli A, Ronchetto P, Tortora D, Tavella E, Gimelli G, Mancardi M, Malacarne M, Coviello DA. Tassano E, et al. Among authors: mancardi m. Eur J Med Genet. 2020 Dec;63(12):104094. doi: 10.1016/j.ejmg.2020.104094. Epub 2020 Nov 4. Eur J Med Genet. 2020. PMID: 33160097

2

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R. Capra V, et al. Am J Med Genet A. 2014 Dec;164A(12):3142-7. doi: 10.1002/ajmg.a.36742. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257626

3

Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction.

Severino M, Tortora D, Pistorio A, Ramenghi LA, Napoli F, Mancardi MM, Striano P, Capra V, Rossi A. Severino M, et al. Among authors: mancardi mm. Neuroradiology. 2016 Jan;58(1):33-44. doi: 10.1007/s00234-015-1601-x. Epub 2015 Oct 7. Neuroradiology. 2016. PMID: 26446148

4

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM. Pisciotta L, et al. Neuropediatrics. 2018 Jun;49(3):217-221. doi: 10.1055/s-0038-1639372. Epub 2018 Apr 9. Neuropediatrics. 2018. PMID: 29631299

5

Noninvasive Assessment of Hemodynamic Stress Distribution after Indirect Revascularization for Pediatric Moyamoya Vasculopathy.

Tortora D, Severino M, Pacetti M, Morana G, Mancardi MM, Capra V, Cama A, Pavanello M, Rossi A. Tortora D, et al. Among authors: mancardi mm. AJNR Am J Neuroradiol. 2018 Jun;39(6):1157-1163. doi: 10.3174/ajnr.A5627. Epub 2018 Apr 19. AJNR Am J Neuroradiol. 2018. PMID: 29674415 Free PMC article.

6

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Accogli A, Scala M, Calcagno A, Napoli F, Di Iorgi N, Arrigo S, Mancardi MM, Prato G, Pisciotta L, Nagel M, Severino M, Capra V. Accogli A, et al. Among authors: mancardi mm. Eur J Med Genet. 2019 Mar;62(3):198-203. doi: 10.1016/j.ejmg.2018.07.014. Epub 2018 Jul 17. Eur J Med Genet. 2019. PMID: 30026055

7

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.

Accogli A, Scala M, Calcagno A, Castello R, Torella A, Musacchia F, Allegri AME, Mancardi MM, Maghnie M, Severino M; Telethon Undiagnosed Diseases Program; Nigro V, Capra V. Accogli A, et al. Among authors: mancardi mm. Am J Med Genet A. 2018 Dec;176(12):2835-2840. doi: 10.1002/ajmg.a.40534. Epub 2018 Sep 20. Am J Med Genet A. 2018. PMID: 30238602 Review.

8

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.

Rosti G, Tassano E, Bossi S, Divizia MT, Ronchetto P, Servetti M, Lerone M, Pisciotta L, Mancardi MM, Veneselli E, Puliti A. Rosti G, et al. Among authors: mancardi mm. Eur J Med Genet. 2019 Sep;62(9):103555. doi: 10.1016/j.ejmg.2018.10.007. Epub 2018 Oct 22. Eur J Med Genet. 2019. PMID: 30359776

9

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.

Uccella S, Accogli A, Tortora D, Mancardi MM, Nobili L, Berloco B, Morana G, Striano P, Capra V, Srour M, Saint-Martine C, Rossi A, Severino M. Uccella S, et al. Among authors: mancardi mm. J Neurol. 2019 May;266(5):1167-1181. doi: 10.1007/s00415-019-09247-7. Epub 2019 Feb 22. J Neurol. 2019. PMID: 30796522

10

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.

Prato G, De Grandis E, Mancardi MM, Cordani R, Giacomini T, Pisciotta L, Uccella S, Severino M, Tortora D, Pavanello M, Bertamino M, Verrina E, Caridi G, Di Rocco M, Nobili L. Prato G, et al. Among authors: mancardi mm. Brain Dev. 2020 May;42(5):408-413. doi: 10.1016/j.braindev.2020.01.008. Epub 2020 Feb 27. Brain Dev. 2020. PMID: 32115305

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