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Precise CCM1 gene correction and inactivation in patient‐derived endothelial cells: Modeling Knudson's two‐hit hypothesis in vitro

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00755-n/a

2019

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Cerebral cavernous malformations form an anticoagulant vascular domain in humans and mice

Blood, 2019-01, Vol.133 (3), p.193-204

2019

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KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants

Journal of molecular neuroscience, 2021-09, Vol.71 (9), p.1876-1883

2021

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Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation

Neurology, 2021-11, Vol.97 (21), p.986

2021

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Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI

Journal of neurosurgery, 2017-02, Vol.126 (2), p.570-577

2017

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Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1

Free radical biology & medicine, 2016-03, Vol.92, p.100-109

2016

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Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1066-1072

2020

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Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations

Journal of the neurological sciences, 2017-09, Vol.380, p.31-37

2017

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Genotype-phenotype correlations in cerebral cavernous malformations patients

Annals of neurology, 2006-11, Vol.60 (5), p.550-556

2006

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Towards a neurocognitive profile in familial cerebral cavernous malformations

Acta neurologica Belgica, 2024-02, Vol.124 (1), p.49-54

2024

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Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations

Journal of molecular neuroscience, 2017-02, Vol.61 (2), p.189-198

2017

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Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family

Seizure (London, England), 2017-12, Vol.53, p.72-74

2017

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A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family

Journal of molecular neuroscience, 2017-02, Vol.61 (2), p.221-226

2017

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CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan

Scientific reports, 2019-08, Vol.9 (1), p.12387-9, Article 12387

2019

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A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation

Clinical neurology and neurosurgery, 2018-01, Vol.164, p.44-46

2018

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A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study

Journal of molecular neuroscience, 2017-04, Vol.61 (4), p.511-523

2017

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Polymorphisms in Inflammatory and Immune Response Genes Associated with Cerebral Cavernous Malformation Type 1 Severity

Cerebrovascular diseases (Basel, Switzerland), 2014-01, Vol.38 (6), p.433-440

2014

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Mutation prevalence of cerebral cavernous malformation genes in Spanish patients

PloS one, 2014-01, Vol.9 (1), p.e86286

2014

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Familial versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype

American journal of neuroradiology : AJNR, 2010-02, Vol.31 (2), p.377-382

2010

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Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition

Radiology, 2017-08, Vol.284 (2), p.443

2017

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Association of Cardiovascular Risk Factors with Disease Severity in Cerebral Cavernous Malformation Type 1 Subjects with the Common Hispanic Mutation

Cerebrovascular diseases (Basel, Switzerland), 2014-01, Vol.37 (1), p.57-63

2014

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Nicolaides–Baraitser syndrome: defining a phenotype

Journal of neurology, 2016-08, Vol.263 (8), p.1659-1660

2016

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High-throughput sequencing of the entire genomic regions of CCM1/KRIT1 , CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations

European journal of medical genetics, 2017-09, Vol.60 (9), p.479-484

2017

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Cerebral cavernous malformations with diffuse manifestation: A benign entity?

Journal of the neurological sciences, 2016-08, Vol.367, p.335-341

2016

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Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients

BioMed research international, 2013-01, Vol.2013, p.459253-8

2013

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Precise CCM1 gene correction and inactivation in patient‐derived endothelial cells: Modeling Knudson's two‐hit hypothesis in vitro

Cerebral cavernous malformations form an anticoagulant vascular domain in humans and mice

KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants

Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI

Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1

Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation

Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations

Genotype-phenotype correlations in cerebral cavernous malformations patients

Towards a neurocognitive profile in familial cerebral cavernous malformations

Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations

Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family

A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family

CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan

A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation

A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study

Polymorphisms in Inflammatory and Immune Response Genes Associated with Cerebral Cavernous Malformation Type 1 Severity

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients

Familial versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype

Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition

Association of Cardiovascular Risk Factors with Disease Severity in Cerebral Cavernous Malformation Type 1 Subjects with the Common Hispanic Mutation

Nicolaides–Baraitser syndrome: defining a phenotype

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1 , CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations

Cerebral cavernous malformations with diffuse manifestation: A benign entity?

Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients

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