A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

Autor: Lombardo A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Sinibaldi L; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, 00165 Rome, Italy., Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Mei V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Pompili D; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Sallicandro E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Falasca R; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Liambo MT; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Faggiano MV; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Roberti MC; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Di Donato M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Vitelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Russo S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Giannini R; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Micalizzi A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Medical Genetics Unit, San Pietro Fatebenefratelli Hospital, 00189 Rome, Italy., Pietrafusa N; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù, IRCCS Children's Hospital, 00165 Rome, Italy., Digilio MC; Medical Genetics Unit, IRCCS Bambino Gesù Children Hospital, 00165 Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Fusco L; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù, IRCCS Children's Hospital, 00165 Rome, Italy., Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 24; Vol. 25 (13). Date of Electronic Publication: 2024 Jun 24.

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A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

Autor: Alesi V; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Loddo S; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Calì F; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Orlando V; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Genovese S; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ferretti D; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Calacci C; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Calvieri G; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Falasca R; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ulgheri L; Department of Biomedical Sciences, Clinical Genetics Service, Azienda Ospedaliero-Universitaria, Sassari, Italy., Drago F; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dallapiccola B; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Baban A; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Aug; Vol. 179 (8), pp. 1615-1621. Date of Electronic Publication: 2019 May 30.

A human forebrain organoid model reveals the essential function of GTF2IRD1-TTR-ERK axis for the neurodevelopmental deficits of Williams syndrome.

Autor: Xingsen Zhao, Qihang Sun, Yikai Shou, Weijun Chen, Mengxuan Wang, Wenzheng Qu, Xiaoli Huang, Ying Li, Chao Wang, Yan Gu, Chai Ji, Qiang Shu, Xuekun Li

Publikováno v: eLife; 12/13/2024, p1-25, 25p

Antiproliferative and bactericidal activity of diiron and monoiron cyclopentadienyl carbonyl complexes comprising a vinyl‐aminoalkylidene unit.

Autor: Rocco, Dalila¹ (AUTHOR), Busto, Natalia² (AUTHOR), Pérez‐Arnaiz, Cristina² (AUTHOR), Biancalana, Lorenzo¹ (AUTHOR), Zacchini, Stefano³ (AUTHOR), Pampaloni, Guido¹ (AUTHOR), Garcia, Begoña² (AUTHOR) begar@ubu.es, Marchetti, Fabio¹ (AUTHOR) fabio.marchetti1974@unipi.it

Publikováno v: Applied Organometallic Chemistry. Nov2020, Vol. 34 Issue 11, p1-18. 18p.