Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1530-0366
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
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
- Urheber
-
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
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s41436-020-0925-z
- URN
-
urn:nbn:de:101:1-2021011019113443433697
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:35 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
- 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)
Ähnliche Objekte (12)
The NF1 somatic mutational landscape in sporadic human cancers
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
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
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
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
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
The NF1 somatic mutational landscape in sporadic human cancers
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
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
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
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
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
The NF1 somatic mutational landscape in sporadic human cancers
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
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
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
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