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A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis

Angiogenesis (London), 2022-11, Vol.25 (4), p.493-502

2022

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SMAD4 mutations found in unselected HHT patients

Journal of medical genetics, 2006-10, Vol.43 (10), p.793-797

2006

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Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia

The European respiratory journal, 2004-03, Vol.23 (3), p.373-377

2004

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Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)

Human molecular genetics, 1999-11, Vol.8 (12), p.2325-2333

1999

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Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Nature genetics, 1994-12, Vol.8 (4), p.345-351

1994

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Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

Nature genetics, 1996-06, Vol.13 (2), p.189-195

1996

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The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2

American journal of human genetics, 1997-07, Vol.61 (1), p.60-67

1997

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Expression analysis of endoglin missense and truncation mutations : insights into protein structure and disease mechanisms

Human molecular genetics, 2000-03, Vol.9 (5), p.745-755

2000

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A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12

Genome research, 1995-08, Vol.5 (1), p.21-28

1995

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A gene for familial venous malformations maps to chromosome 9p in a second large kindred

Journal of medical genetics, 1995-03, Vol.32 (3), p.197-199

1995

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A single amino acid substitution in a hydrophobic domain causes temperature-sensitive cell-surface transport of a mutant viral glycoprotein

Journal of Virology, 1985-05, Vol.54 (2), p.374-382

1985

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The presence of cysteine in the cytoplasmic domain of the vesicular stomatitis virus glycoprotein is required for palmitate addition

Proceedings of the National Academy of Sciences - PNAS, 1984-04, Vol.81 (7), p.2050-2054

1984

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Nucleotide sequences of the mRNA's encoding the vesicular stomatitis virus G and M proteins determined from cDNA clones containing the complete coding regions

Journal of Virology, 1981-08, Vol.39 (2), p.519-528

1981

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Nucleotide sequence of a cDNA clone encoding the entire glycoprotein from the New Jersey serotype of vesicular stomatitis virus

Journal of Virology, 1983-04, Vol.46 (1), p.162-169

1983

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Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function

Human molecular genetics, 1995-10, Vol.4 (10), p.1983-1985

1995

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Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles : evidence for a founder effect

Human genetics, 2000-07, Vol.107 (1), p.40-44

2000

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Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease

Human genetics, 1998-02, Vol.102 (2), p.207-212

1998

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A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two Families

Genomics (San Diego, Calif.), 1995-07, Vol.28 (2), p.311-314

1995

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A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations

Genetics in medicine, 2011-07, Vol.13 (7), p.662-666

2011

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Nucleotide sequences of the mRNA's encoding the vesicular stomatitis virus N and NS proteins

Journal of Virology, 1981-08, Vol.39 (2), p.529-535

1981

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Loss of p53 Sensitizes Mice with a Mutation in Ccm1 (KRIT1) to Development of Cerebral Vascular Malformations

The American journal of pathology, 2004-11, Vol.165 (5), p.1509-1518

2004

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Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online

Human mutation, 1998, Vol.12 (2), p.137-137

1998

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Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1

The Journal of biological chemistry, 2005-03, Vol.280 (9), p.8482-8493

2005

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Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles

Human mutation, 1998, Vol.11 (4), p.286-294

1998

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Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia

Human mutation, 1998, Vol.12 (2), p.137-137

1998

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A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis

SMAD4 mutations found in unselected HHT patients

Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia

Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)

Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2

Expression analysis of endoglin missense and truncation mutations : insights into protein structure and disease mechanisms

A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12

A gene for familial venous malformations maps to chromosome 9p in a second large kindred

A single amino acid substitution in a hydrophobic domain causes temperature-sensitive cell-surface transport of a mutant viral glycoprotein

The presence of cysteine in the cytoplasmic domain of the vesicular stomatitis virus glycoprotein is required for palmitate addition

Nucleotide sequences of the mRNA's encoding the vesicular stomatitis virus G and M proteins determined from cDNA clones containing the complete coding regions

Nucleotide sequence of a cDNA clone encoding the entire glycoprotein from the New Jersey serotype of vesicular stomatitis virus

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function

Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles : evidence for a founder effect

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease

A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two Families

A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations

Nucleotide sequences of the mRNA's encoding the vesicular stomatitis virus N and NS proteins

Loss of p53 Sensitizes Mice with a Mutation in Ccm1 (KRIT1) to Development of Cerebral Vascular Malformations

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online

Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia

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