Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations-Reference-Cited by-同舟云学术

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

Published:2016-12-20 Issue:1 Volume:5 Page:21-27
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Rath Matthias¹,Spiegler Stefanie¹,Nath Neetika²,Schwefel Konrad¹,Di Donato Nataliya³,Gerber Johannes⁴^ORCID,Korenke G. Christoph⁵,Hellenbroich Yorck⁶,Hehr Ute⁷,Gross Stephanie⁸,Sure Ulrich⁹,Zoll Barbara¹⁰,Gilberg Eberhard¹,Kaderali Lars²,Felbor Ute¹

Affiliation:

1. Department of Human Genetics; University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics; University of Greifswald; Greifswald Germany

2. Institute for Bioinformatics; University Medicine Greifswald; Greifswald Germany

3. Institute for Clinical Genetics; Faculty of Medicine Carl Gustav Carus; TU Dresden; Dresden Germany

4. Department of Neuroradiology; University Hospital Carl Gustav Carus; Dresden Germany

5. Department of Neuropaediatrics; Children's Hospital Oldenburg; Oldenburg Germany

6. Institute of Human Genetics; University of Lübeck; Lübeck Germany

7. Center for and Institute of Human Genetics; University of Regensburg; Regensburg Germany

8. Department of Neuropediatrics; Justus-Liebig-University; Gießen Germany

9. Department of Neurosurgery; University Hospital Essen; University of Duisburg-Essen; Essen Germany

10. Institute of Human Genetics; Georg August University; Göttingen Germany

Funder

Deutsche Forschungsgemeinschaft

Research Network Molecular Medicine of the University Medicine Greifswald

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference16 articles.

1. Post-zygotic point mutations are an underrecognized source of de novo genomic variation;Acuna-Hidalgo;Am. J. Hum. Genet.,2015

2. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations;Bergametti;Am. J. Hum. Genet.,2005

3. PDCD10 gene mutations in multiple cerebral cavernous malformations;Cigoli;PLoS ONE,2014

4. Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation;D'Angelo;Brain Pathol.,2011

5. Genotype-phenotype correlations in cerebral cavernous malformations patients;Denier;Ann. Neurol.,2006

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1. Cerebral cavernous malformations do not fall in the spectrum of PIK3CA-related overgrowth;Journal of Neurology, Neurosurgery & Psychiatry;2022-04-27

2. Molecular Genetic Screening of CCM Patients: An Overview;Methods in Molecular Biology;2020

3. Postzygotic mosaicism in cerebral cavernous malformation;Journal of Medical Genetics;2019-08-24

4. Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling;Molecular Syndromology;2018