Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1530-0366
- 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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Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1 ; volume:22 ; number:12 ; day:10 ; month:8 ; year:2020 ; pages:2081-2088 ; date:12.2020
Genetics in medicine ; 22, Heft 12 (10.8.2020), 2081-2088, 12.2020
- Creator
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Perez-Valencia, Juan A.
Gallon, Richard
Chen, Yunjia
Koch, Jakob
Keller, Markus
Oberhuber, Klaus
Gomes, Alicia
Zschocke, Johannes
Burn, John
Jackson, Michael S.
Santibanez-Koref, Mauro
Messiaen, Ludwine
Wimmer, Katharina
- Contributor
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SpringerLink (Online service)
- DOI
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10.1038/s41436-020-0925-z
- URN
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urn:nbn:de:101:1-2021011019113443433697
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:35 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Perez-Valencia, Juan A.
- Gallon, Richard
- Chen, Yunjia
- Koch, Jakob
- Keller, Markus
- Oberhuber, Klaus
- Gomes, Alicia
- Zschocke, Johannes
- Burn, John
- Jackson, Michael S.
- Santibanez-Koref, Mauro
- Messiaen, Ludwine
- Wimmer, Katharina
- SpringerLink (Online service)
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Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
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Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
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
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Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls – Two pathways to success
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The NF1 somatic mutational landscape in sporadic human cancers
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)
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
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
Mismatch repair genes status in sporadic Saudi colorectal cancer patients
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
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Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls – Two pathways to success