Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent

Genes, Neurofibromatosis 1 Genetic Association Studies Humans Neoplasm Recurrence, Local / genetics Neurofibromatosis 1 / pathology Neurofibromin 1 Phenotype
NF1 mutational spectrum Neurofibromatosis type 1 genotype-phenotype correlations internal phenotypic categorization monocentric study cohort novel and recurrent NF1 mutations

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
23 06 2022
Historique:
received: 28 04 2022
revised: 14 06 2022
accepted: 17 06 2022
entrez: 27 7 2022
pubmed: 28 7 2022
medline: 29 7 2022
Statut: epublish

Résumé

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the

Identifiants

DOI: 10.3390/genes13071130 PMID: 35885913 PMC: PMC9316015
pubmed: 35885913
pii: genes13071130
doi: 10.3390/genes13071130
pmc: PMC9316015
pii:
doi:

Substances chimiques

NF1 protein, human 0
Neurofibromin 1 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Filomena Napolitano (F)

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.

Milena Dell'Aquila (M)

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.

Chiara Terracciano (C)

Neurology Unit, Azienda Unità Sanitaria Locale di Piacenza, 29121 Piacenza, Italy.

Giuseppina Franzese (G)

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.

Maria Teresa Gentile (MT)

Laboratory of Cellular and Molecular Neuropathology, Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
ORCID: 0000-0003-4239-5330

Giulio Piluso (G)

Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio 7, 80138 Naples, Italy.
ORCID: 0000-0001-9418-125X

Claudia Santoro (C)

Department of Women's and Children's Health and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138 Naples, Italy.
Department of Mental and Physical Health and Preventive Medicine, Clinic of Child and Adolescent Neuropsychiatry, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
ORCID: 0000-0003-4547-0500

Davide Colavito (D)

R&I Genetics SRL, 35127 Padua, Italy.

Anna Patanè (A)

R&I Genetics SRL, 35127 Padua, Italy.

Paolo De Blasiis (P)

Department of Mental and Physical Health and Preventive Medicine, Section of Human Anatomy, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
ORCID: 0000-0002-1317-7994

Simone Sampaolo (S)

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
ORCID: 0000-0002-1383-6638

Simona Paladino (S)

Department of Molecular Medicine and Medical Biotechnology, InterUniversity Center for Research in Neurosciences, University of Naples "Federico II", 80131 Naples, Italy.
ORCID: 0000-0001-5332-6774

Mariarosa Anna Beatrice Melone (MAB)

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, Temple University, Philadelphia, PA 19122, USA.
ORCID: 0000-0002-7213-9277

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes suppresseurs de tumeur › Gènes nf1 › Genotype-Phenotype Correlations in...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Genotype-Phenotype Correlations in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genotype-Phenotype Correlations in...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Processus néoplasiques › Récidive tumorale locale › Genotype-Phenotype Correlations in...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndromes néoplasiques héréditaires › Neurofibromatoses › Neurofibromatose de type 1 › Genotype-Phenotype Correlations in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines suppresseurs de tumeurs › Neurofibromine-1 › Genotype-Phenotype Correlations in...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Genotype-Phenotype Correlations in...