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Sphingolipid Metabolism Perturbations in Rett Syndrome.
Cappuccio G, Donti T, Pinelli M, Bernardo P, Bravaccio C, Elsea SH, Brunetti-Pierri N. Cappuccio G, et al. Among authors: pinelli m. Metabolites. 2019 Oct 10;9(10):221. doi: 10.3390/metabo9100221. Metabolites. 2019. PMID: 31658741 Free PMC article.
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.
Cappuccio G, Alagia M, D'Anna M, Ranieri C, Di Tommaso S, Bruno C, Fiorillo C, Pedemonte M, Loconte D, Della Casa R, Strisciuglio P, Ginocchio MI, Pinelli M, Resta N, Brunetti-Pierri N. Cappuccio G, et al. Among authors: pinelli m. Eur J Med Genet. 2017 Dec;60(12):655-657. doi: 10.1016/j.ejmg.2017.08.018. Epub 2017 Sep 1. Eur J Med Genet. 2017. PMID: 28867506
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH. Cappuccio G, et al. Among authors: pinelli m. PLoS One. 2017 Sep 29;12(9):e0184022. doi: 10.1371/journal.pone.0184022. eCollection 2017. PLoS One. 2017. PMID: 28961260 Free PMC article.
An extremely severe phenotype attributed to WDR81 nonsense mutations.
Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Among authors: pinelli m. Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058. Ann Neurol. 2017. PMID: 28972664 No abstract available.
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP. Alagia M, et al. Among authors: pinelli m. Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12. Am J Med Genet A. 2018. PMID: 29230941 Free PMC article.
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.
Cappuccio G, Bernardo P, Raiano E, Pinelli M, Alagia M, Esposito M, Della Casa R, Strisciuglio P, Brunetti-Pierri N, Bravaccio C. Cappuccio G, et al. Among authors: pinelli m. Acta Paediatr. 2019 Jan;108(1):171-172. doi: 10.1111/apa.14576. Epub 2018 Oct 17. Acta Paediatr. 2019. PMID: 30216533 No abstract available.
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium; Nigro V, Capra V. Scala M, et al. Among authors: pinelli m. Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936465 Free PMC article.
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, Nigro V, Banfi S, Simonelli F; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Among authors: pinelli m. Mol Genet Genomic Med. 2019 Jun;7(6):e682. doi: 10.1002/mgg3.682. Epub 2019 Apr 11. Mol Genet Genomic Med. 2019. PMID: 30973214 Free PMC article.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Among authors: pinelli m. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
217 results