Syndromic non-compaction of the left ventricle: associated chromosomal anomalies

Autor: Digilio, Mc, Bernardini, L, Gagliardi, Mg, Versacci, P, Baban, A, Capolino, R, Dentici, Ml, Roberti, Mc, Angioni, A, Novelli, A, MARINO TAUSSIG DE BODONIA, Bruno, DALLA PICCOLA, Bruno

Publikováno v: Clinical genetics. 84(4)

Non-compaction of the left ventricle (NCLV) is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intertrabecular recesses. Associated extracardiac anomalies occur in 14-66% of patients of different series, while chromos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bd7576e0ac0e4017b3664d20db0952f5
https://pubmed.ncbi.nlm.nih.gov/23210894

Syndromic non-compaction of the left ventricle: associated chromosomal anomalies.

Autor: Digilio, MC, Bernardini, L, Gagliardi, MG, Versacci, P, Baban, A, Capolino, R, Dentici, ML, Roberti, MC, Angioni, A, Novelli, A, Marino, B, Dallapiccola, B

Publikováno v: Clinical Genetics; Oct2013, Vol. 84 Issue 4, p362-367, 6p, 1 Chart

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location

Autor: Cecilia Surace, Mc Roberti, Mc Digilio, Rossella Capolino, S Piazzolla, Stefano Petrocchi, Adriano Angioni, Antonietta Lombardo, Ac Tomaiuolo, Pietro Sirleto, M El Hachem, Gemma D'Elia, Antonella Sgura, D Claps Sepulveda

Ring 17 syndrome is a rare disorder with clinical features influenced by the presence or deletion of the Miller–Dieker critical region (MDCR). Presence of the MDCR is associated with a mild phenotype, including growth delay (GD), mental retardation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd7914ac7529eb3321d9128336467a2e
https://hdl.handle.net/11590/124129

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.

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.

Autor: Orlando V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Di Tommaso S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Loddo S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Martucci L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Roberti MC; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Dentici ML; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Specchio N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Dallapiccola B; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Ferretti A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2022 Oct 26; Vol. 23 (21). Date of Electronic Publication: 2022 Oct 26.