Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 ; volume:14 ; number:1 ; day:15 ; month:11 ; year:2019 ; pages:1-9 ; date:12.2019
Orphanet journal of rare diseases ; 14, Heft 1 (15.11.2019), 1-9, 12.2019
- Urheber
-
Assunto, Antonia
Ferrara, Ursula
Luca, Alessandro De
Pivonello, Claudia
Lombardo, Lisa
Piscitelli, Annapina
Tortora, Cristina
Pinna, Valentina
Daniele, Paola
Pivonello, Rosario
Russo, Maria Giovanna
Limongelli, Giuseppe
Colao, Annamaria
Tartaglia, Marco
Strisciuglio, Pietro
Melis, Daniela
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s13023-019-1223-1
- URN
-
urn:nbn:de:101:1-2020031407352419115913
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:53 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Assunto, Antonia
- Ferrara, Ursula
- Luca, Alessandro De
- Pivonello, Claudia
- Lombardo, Lisa
- Piscitelli, Annapina
- Tortora, Cristina
- Pinna, Valentina
- Daniele, Paola
- Pivonello, Rosario
- Russo, Maria Giovanna
- Limongelli, Giuseppe
- Colao, Annamaria
- Tartaglia, Marco
- Strisciuglio, Pietro
- Melis, Daniela
- SpringerLink (Online service)
Ähnliche Objekte (12)
![Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II](/assets/placeholder/searchResultMediaUnknown.png)
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)
Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire
Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)
Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
Sites of transcription initiation drive mRNA isoform selection
Sites of transcription initiation drive mRNA isoform selection
EBV-regulated global changes in mRNA isoform usage
Characterization of a novel long FOXP3 mRNA isoform
Identification of mRNA isoform switching in breast cancer
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)
Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire
Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)
Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
Sites of transcription initiation drive mRNA isoform selection
Sites of transcription initiation drive mRNA isoform selection
EBV-regulated global changes in mRNA isoform usage
Characterization of a novel long FOXP3 mRNA isoform
Identification of mRNA isoform switching in breast cancer
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)
Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire
Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)
Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
Sites of transcription initiation drive mRNA isoform selection
Sites of transcription initiation drive mRNA isoform selection
EBV-regulated global changes in mRNA isoform usage
Characterization of a novel long FOXP3 mRNA isoform