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Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.
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- Molecular Syndromology, 2018, v. 9, n. 2, p. 60, doi. 10.1159/000486292
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- Article
Secreted cathepsin L generates endostatin from collagen XVIII.
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- EMBO Journal, 2000, v. 19, n. 6, p. 1187, doi. 10.1093/emboj/19.6.1187
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- Article
Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3993, doi. 10.3390/ijms24043993
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- Article
Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15639, doi. 10.3390/ijms232415639
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- Article
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 295, doi. 10.1002/ajmg.a.60700
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- Article
Clinical impact of CCM mutation detection in familial cavernous angioma.
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- Child's Nervous System, 2006, v. 22, n. 11, p. 1461, doi. 10.1007/s00381-006-0202-8
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- Article
Centromeric association of chromosome 16- and 18-derived microchromosomes.
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- Human Genetics, 2002, v. 111, n. 1, p. 16, doi. 10.1007/s00439-002-0744-0
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- Article
Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
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- Healthcare (2227-9032), 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/healthcare10102021
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- Article
Endostatin phenylalanines 31 and 34 define a receptor binding site.
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- Genes to Cells, 2005, v. 10, n. 9, p. 929, doi. 10.1111/j.1365-2443.2005.00890.x
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- Article
Quantitative Diffusion-Weighted MRI of Neuroblastoma.
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- Cancers, 2023, v. 15, n. 7, p. 1940, doi. 10.3390/cancers15071940
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- Article
Cellular models of genetic diseases.
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- 2021
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- Editorial
Bringing CCM into a dish: cell culture models for cerebral cavernous malformations.
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- Medizinische Genetik, 2021, v. 33, n. 3, p. 251, doi. 10.1515/medgen-2021-2091
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- Article
Mukoviszidose.
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- Medizinische Genetik, 2016, v. 28, n. 3, p. 355, doi. 10.1007/s11825-016-0105-3
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- Article
Liquid Biopsies.
- Published in:
- 2016
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- Publication type:
- Editorial
First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63337-5
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- Article
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening.
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- Journal of Cellular & Molecular Medicine, 2019, v. 23, n. 3, p. 1771, doi. 10.1111/jcmm.14075
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- Article
Loss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations.
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- Journal of Cellular & Molecular Medicine, 2013, v. 17, n. 3, p. 407, doi. 10.1111/jcmm.12022
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- Article
Contact-dependent signaling triggers tumor-like proliferation of CCM3 knockout endothelial cells in co-culture with wild-type cells.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04355-6
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- Article
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.
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- FASEB Journal, 2020, v. 34, n. 7, p. 9018, doi. 10.1096/fj.201902888R
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- Article
Sorsby's fundus dystrophy: a genetically homogeneous condition.
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- Der Ophthalmologe, 1998, v. 95, n. 5, p. 287, doi. 10.1007/s003470050274
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- Article
Disorders Caused by Genetic Mosaicism.
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- Deutsches Ärzteblatt International, 2020, v. 117, n. 8, p. 119, doi. 10.3238/arztebl.2020.0119
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- Article
VEGF receptors on PC12 cells mediate transient activation of ERK1/2 and Akt: comparison of nerve growth factor and vascular endothelial growth factor.
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- Journal of Negative Results in Biomedicine, 2006, v. 5, p. 8, doi. 10.1186/1477-5751-5-8
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- Article
Nonheparan sulfate-binding interactions of endostatin/collagen XVIII in murine development.
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- Developmental Dynamics, 2005, v. 232, n. 2, p. 399
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- Publication type:
- Article
Precise CCM1 gene correction and inactivation in patient‐derived endothelial cells: Modeling Knudson's two‐hit hypothesis in vitro.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.755
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- Article
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 21, doi. 10.1002/mgg3.256
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- Article
Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.
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- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01219
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- Article
Spacer-Supported Thermal Ablation to Prevent Carbonisation and Improve Ablation Size: A Proof of Concept Study.
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- Biomedicines, 2023, v. 11, n. 2, p. 575, doi. 10.3390/biomedicines11020575
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- Article
Long-term outcome and quality of life after CNS cavernoma resection: eloquent vs. non-eloquent areas.
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- Neurosurgical Review, 2022, v. 45, n. 1, p. 649, doi. 10.1007/s10143-021-01572-8
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- Article
CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics.
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- Neurosurgical Review, 2019, v. 42, n. 3, p. 765, doi. 10.1007/s10143-019-01124-1
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- Publication type:
- Article
Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.
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- Neurosurgical Review, 2014, v. 37, n. 1, p. 161, doi. 10.1007/s10143-013-0478-6
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- Article
CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.
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- Neurosurgical Review, 2007, v. 30, n. 2, p. 155, doi. 10.1007/s10143-006-0057-1
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- Article
Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein.
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- Human Mutation, 2009, v. 30, n. 6, p. 1003, doi. 10.1002/humu.20996
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- Article
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
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- Human Mutation, 2008, v. 29, n. 5, p. 709, doi. 10.1002/humu.20712
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- Article
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 911, doi. 10.1093/hmg/ddn420
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- Article
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
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- Science Translational Medicine, 2022, v. 14, n. 634, p. 1, doi. 10.1126/scitranslmed.abm4869
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- Article
Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI.
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- Journal of Neurosurgery, 2017, v. 126, n. 2, p. 570, doi. 10.3171/2016.2.JNS152322
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- Article
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.
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- Neurogenetics, 2018, v. 19, n. 1, p. 55, doi. 10.1007/s10048-017-0531-7
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- Article
Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3.
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- Neurogenetics, 2011, v. 12, n. 1, p. 83, doi. 10.1007/s10048-010-0261-6
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- Article
CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations.
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- Neurogenetics, 2007, v. 8, n. 4, p. 249, doi. 10.1007/s10048-007-0098-9
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- Article
Prevalence of THAP1 sequence variants in German patients with primary dystonia.
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- Movement Disorders, 2010, v. 25, n. 12, p. 1982, doi. 10.1002/mds.23207
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- Article
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/ RDS gene.
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- Human Mutation, 1997, v. 10, n. 4, p. 301, doi. 10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J
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- Article
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
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- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2415
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- Article
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.
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- Molecular Syndromology, 2016, v. 7, n. 3, p. 144, doi. 10.1159/000446884
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- Publication type:
- Article
BOD1 Is Required for Cognitive Function in Humans and Drosophila.
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- PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006022
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- Article