Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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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
- Creator
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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
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s13023-019-1223-1
- URN
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urn:nbn:de:101:1-2020031407352419115913
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:53 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- 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)
Other Objects (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
Identification of mRNA isoform switching in breast cancer
Characterization of a novel long FOXP3 mRNA isoform
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
Identification of mRNA isoform switching in breast cancer
Characterization of a novel long FOXP3 mRNA isoform
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
Identification of mRNA isoform switching in breast cancer