Cargando…

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1), Legius syndrome, and other neurocutaneous disorders. The differential molecular diagnosis of these pathologies is a challenge that can now be met by combining next generation sequen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Giugliano, Teresa, Santoro, Claudia, Torella, Annalaura, Del Vecchio Blanco, Francesca, Grandone, Anna, Onore, Maria Elena, Melone, Mariarosa Anna Beatrice, Straccia, Giulia, Melis, Daniela, Piccolo, Vincenzo, Limongelli, Giuseppe, Buono, Salvatore, Perrotta, Silverio, Nigro, Vincenzo, Piluso, Giulio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6722641/ https://www.ncbi.nlm.nih.gov/pubmed/31370276 http://dx.doi.org/10.3390/genes10080580

Ejemplares similares

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1
por: Santoro, Claudia, et al.
Publicado: (2018)

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
por: Santoro, Claudia, et al.
Publicado: (2020)

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations
por: Peduto, Cristina, et al.
Publicado: (2023)

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement
por: Onore, Maria Elena, et al.
Publicado: (2021)

Legius Syndrome and its Relationship with Neurofibromatosis Type 1
por: DENAYER, Ellen, et al.
Publicado: (2020)

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
por: Viggiano, Emanuela, et al.
Publicado: (2023)

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
por: Torella, Annalaura, et al.
Publicado: (2020)

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
por: Santoro, Claudia, et al.
Publicado: (2018)

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
por: Legius, Eric, et al.
Publicado: (2021)

Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically
por: Torella, Annalaura, et al.
Publicado: (2023)

Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa–Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature
por: Conforti, Renata, et al.
Publicado: (2014)

Legius Syndrome in Fourteen Families
por: Denayer, Ellen, et al.
Publicado: (2011)

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements
por: Savarese, Marco, et al.
Publicado: (2012)

RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome
por: Romanisio, Giulia, et al.
Publicado: (2021)

Understanding the Interactions between the Proteins Implicated in Legius Syndrome and Neurofibromatosis Type 1(♦): Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1
Publicado: (2016)

The SPRED1 Variants Repository for Legius Syndrome
por: Sumner, Kelli, et al.
Publicado: (2011)

Legius syndrome: case report and review of literature
por: Benelli, Elisa, et al.
Publicado: (2015)

Legius Syndrome: two novel mutations in the SPRED1 gene
por: Bianchi, Marika, et al.
Publicado: (2015)

Neurocutaneous melanosis
por: Moreira, Bruno Lima, et al.
Publicado: (2016)

Novel mutations in LMNA A/C gene and associated phenotypes
por: Petillo, Roberta, et al.
Publicado: (2015)

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design
por: Riccardi, Claudia, et al.
Publicado: (2020)

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype
por: Napolitano, Filomena, et al.
Publicado: (2022)

Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome
por: Stafstrom, Carl E., et al.
Publicado: (2017)

GYG1 gene mutations in a family with polyglucosan body myopathy
por: Fanin, Marina, et al.
Publicado: (2015)

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report
por: Picillo, Esther, et al.
Publicado: (2022)

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies
por: Santoro, Claudia, et al.
Publicado: (2014)

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort
por: Paterra, Rosina, et al.
Publicado: (2022)

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
por: Torella, Annalaura, et al.
Publicado: (2013)

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
por: Merlini, Luciano, et al.
Publicado: (2019)

Lisch nodules and iris mammillations in two siblings with familial legius syndrome
por: Bixel, Kaitlyn D., et al.
Publicado: (2020)

Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?
por: Orlandi, Valentina, et al.
Publicado: (2021)

Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report
por: Paixao, Filipa, et al.
Publicado: (2023)

Neurocutaneous syndromes in art and antiquities
por: Ruggieri, Martino, et al.
Publicado: (2021)

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot
por: Alagia, Marianna, et al.
Publicado: (2017)

Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients
por: Zacchia, Miriam, et al.
Publicado: (2020)

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results
por: Giugliano, Teresa, et al.
Publicado: (2016)

Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome
por: Pinto, Anna, et al.
Publicado: (2016)

NEUROCUTANEOUS SYNDROME: A PROSPECTIVE STUDY
por: Purkait, Radheshyam, et al.
Publicado: (2011)

Next generation sequencing (NGS) strategies for the genetic testing of myopathies
por: NIGRO, VINCENZO, et al.
Publicado: (2012)

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation
por: Zacchia, Miriam, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_m302vghs8vpeukk496f0031p8a