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WES in 42 trios of syndromic and isolated Chiari malformation type 1: how to define the genetic cause in a high clinical heterogeneous condition

Categoria: Pubblicazioni

WES in 42 trios of syndromic and isolated Chiari malformation type 1: how to define the genetic cause in a high clinical heterogeneous condition

WES in 42 trios of syndromic and isolated Chiari malformation type 1: how to define the genetic cause in a high clinical heterogeneous condition

Abstract Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&cstart=20&pagesize=80&citation_for_view=70cz3rUAAAAJ:eQOLeE2rZwMC Chiari malformation type 1 (CM1) is a congenital anomaly of cranio-cerebral junctions characterized by underdevelopment of the occipital bone and posterior fossa (PF) and consequent cerebellar tonsil herniation across the foramen magnum. This condition can impair the…

DISPOSITIVO CHIRURGICO DI AFFERRAGGIO A PINZA

DISPOSITIVO CHIRURGICO DI AFFERRAGGIO A PINZA

Abstract Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&pagesize=80&citation_for_view=70cz3rUAAAAJ:Wp0gIr-vW9MC La presente invenzione si colloca nell’ambito della chirurgia e della relativa strumentazione chirurgica, e più precisamente l’invenzione si riferisce ad un dispositivo destinato ad essere impiegato, per via mininvasiva, nel corso di interventi neurochirurgici.

Surgery of complex craniofacial defects: A single-step AM-based methodology

Surgery of complex craniofacial defects: A single-step AM-based methodology

Abstract PMID: 30337077 DOI: 10.1016/j.cmpb.2018.09.002 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:d1gkVwhDpl0C Background and objective: The purpose of the present paper is to pave the road to the systematic optimization of complex craniofacial surgical intervention and to validate a design methodology for the virtual surgery and…

Endoscopic endonasal skull base surgery in pediatric patients. A single center experience

Endoscopic endonasal skull base surgery in pediatric patients. A single center experience

PMCID: 30318327 DOI: 10.1016/j.jcms.2018.09.013 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:Y0pCki6q_DkC Abstract Object: At present, a minimally invasive endoscopic endonasal approach is considered an efficient option for lesions affecting the anterior and middle skull base with sellar and parasellar region involvement. In this study we…

MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism

MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism

PMCID: 26829751 DOI: 10.1038/ng.3500 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:zYLM7Y9cAGgC Abstract Angiocentric gliomas are pediatric low-grade gliomas (PLGGs) without known recurrent genetic drivers. We performed genomic analysis of new and published data from 249 PLGGs, including 19 angiocentric gliomas. We identified MYB-QKI fusions as a…

Subependymal giant cell astrocytoma: a lesion with activated mTOR pathway and constant expression of glutamine synthetase

Subependymal giant cell astrocytoma: a lesion with activated mTOR pathway and constant expression of glutamine synthetase

Abstract PMID: 27390104 DOI: 10.5414/NP300936 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:UeHWp8X0CEIC Subependymal giant-cell astrocytoma (SEGA) is a rare tumor associated with tuberous sclerosis complex (TSC). TSC mainly involves the central nervous system (CNS) where SEGA, subependymal nodules, and cortical tubers may be present. First studies…

Surgical Treatment of Central Nervous System Malformations

Surgical Treatment of Central Nervous System Malformations

Abstract PMID: 18809045DOI: https://doi.org/10.1016/s0072-9752(07)87031-x Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&pagesize=80&citation_for_view=70cz3rUAAAAJ:2osOgNQ5qMEC Congenital malformations of the central nervous system are related to alterations in neural tube formation, including most of the neurosurgical management entities, dysraphism and craniosynostosis; alterations of neuronal proliferation; megalencefaly and microcephaly; abnormal neuronal migration,…

La sezione del filum terminale per via extradurale è una metodica chirurgica impiegata nel trattamento delle sindormi occulte da ancoraggio midollare

La sezione del filum terminale per via extradurale è una metodica chirurgica impiegata nel trattamento delle sindormi occulte da ancoraggio midollare

Link: http://www.arnold-chiari.it/testo_publicazione_dr_sardo.html La sezione del filum terminale per via extradurale è una metodica chirurgica sviluppata da Royo-Salvador per il trattamento dell’anomalia di Chiari, siringomielia, scoliosi, midollo fissato occulto e non. Royo-Salvador ha elaborato una teoria che riconosce un’eziologia comune in…

MULTIDISCIPLINARY MANAGEMENT OF COMPLICATIONS IN CRANIOFACIAL SURGERY

MULTIDISCIPLINARY MANAGEMENT OF COMPLICATIONS IN CRANIOFACIAL SURGERY

Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&pagesize=80&citation_for_view=70cz3rUAAAAJ:Tyk-4Ss8FVUC Craniosynostosis consists of a premature closure of one or more cranial suture. A well known adverse consequence of craniosynostosis surgery is the reoperation. As it is mentioned in literature, reoperations could be due to predictable situations, as in…