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PLoS ONE, ISSN 1932-6203, 02/2013, Volume 8, Issue 2, p. e58031
Purpose: To identify a novel pathogenic gene mutation present in a Chinese family with hereditary hemorrhagic telangiectasia (HHT) and to determine if an... 
MAPS | ENDOGLIN | MULTIDISCIPLINARY SCIENCES | ENDOTHELIAL-CELLS | GENETIC-HETEROGENEITY | JUVENILE POLYPOSIS | PHENOTYPES | KINASE GENE | LOCUS | EXPRESSION | TYPE-2 | Protein Binding - genetics | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Child, Preschool | Molecular Sequence Data | Gastric Mucosa - pathology | Male | Telangiectasia, Hereditary Hemorrhagic - genetics | RNA, Messenger - metabolism | Antigens, CD - genetics | Antigens, CD - metabolism | Endoglin | Base Sequence | China | Adult | Female | Transcription, Genetic | Genetic Predisposition to Disease | Introns - genetics | RNA, Messenger - genetics | Receptors, Cell Surface - metabolism | Up-Regulation - genetics | Binding Sites - genetics | Mutation - genetics | Down-Regulation - genetics | Pedigree | Activin Receptors, Type II - genetics | Family | Consensus Sequence - genetics | Receptors, Cell Surface - genetics | Telangiectasis | RNA | Gene mutations | Genes | Genetic aspects | Genetic transcription | ACVRL1 gene | Gene regulation | Gene deletion | Kinases | Assaying | Hemorrhage | Gene sequencing | Defects | Genotype & phenotype | Clonal deletion | Deletion | Endoscopy | Deoxyribonucleic acid--DNA | Chain mobility | Hematology | Hereditary hemorrhagic telangiectasia | Sp1 protein | Gene expression | Patients | Polymerase chain reaction | Electrophoretic mobility | Gene rearrangement | Point mutation | Mutation | Deoxyribonucleic acid | DNA
Journal Article
Nature, ISSN 0028-0836, 12/2008, Volume 456, Issue 7222, pp. 643 - 647
Journal Article
International Journal of Radiation Oncology, Biology, Physics, ISSN 0360-3016, 2012, Volume 84, Issue 4, pp. 1031 - 1036
Purpose In patients receiving radiotherapy for breast cancer where the heart is within the radiation field, cutaneous telangiectasiae could be a marker of... 
Radiology | Hematology, Oncology and Palliative Medicine | HEREDITARY HEMORRHAGIC TELANGIECTASIA | ONCOLOGY | ENDOGLIN | DNA-DAMAGE | DISEASE | BREAST-CANCER PATIENTS | HAPLOTYPES | RISK | RADIOTHERAPY | MUTATIONS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | SINGLE-NUCLEOTIDE POLYMORPHISMS | Breast Neoplasms - surgery | Humans | Middle Aged | Telangiectasia, Hereditary Hemorrhagic - genetics | Antigens, CD - genetics | Genetic Variation | Endoglin | Radiation Injuries - genetics | Skin Diseases, Vascular - genetics | Tumor Suppressor Proteins - genetics | Aged, 80 and over | Cell Cycle Proteins - genetics | Adult | Female | Breast - radiation effects | Telangiectasis - genetics | Genetic Predisposition to Disease - genetics | Protein-Serine-Threonine Kinases - genetics | Ataxia Telangiectasia Mutated Proteins | DNA-Binding Proteins - genetics | Regression Analysis | Breast Neoplasms - radiotherapy | Phenotype | Activin Receptors, Type II - genetics | Polymorphism, Single Nucleotide - genetics | Aged | Receptors, Cell Surface - genetics | Telangiectasis | Nuclear radiation | Oncology, Experimental | Genes | Genetic aspects | Research | Radiotherapy | Heart diseases | Peat | Cancer | Index Medicus | Activin | FIBROSIS | SURGERY | PATIENTS | MAMMARY GLANDS | NEOPLASMS | GENE MUTATIONS | CARDIOVASCULAR DISEASES | PHENOTYPE | TOXICITY | RADIATION INJURIES | HEART | NUCLEOTIDES | HEALTH HAZARDS | GENES | RADIOLOGY AND NUCLEAR MEDICINE | RECEPTORS
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2014, Volume 124, Issue 7, pp. 3137 - 3146
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 559 - 567
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2009, Volume 360, Issue 1, pp. 32 - 43
Journal Article
Journal Article
by Anderson, Beverley H and Kasher, Paul R and Mayer, Josephine and Szynkiewicz, Marcin and Jenkinson, Emma M and Bhaskar, Sanjeev S and Urquhart, Jill E and Daly, Sarah B and Dickerson, Jonathan E and O'Sullivan, James and Leibundgut, Elisabeth Oppliger and Muter, Joanne and Abdel-Salem, Ghada M. H and Babul-Hirji, Riyana and Baxter, Peter and Berger, Anea and Bonafé, Luisa and Brunstom-Hernandez, Janice E and Buckard, Johannes A and Chitayat, David and Chong, Wui K and Cordelli, Duccio M and Ferreira, Patrick and Fluss, Joel and Forrest, Ewan H and Franzoni, Emilio and Garone, Caterina and Hammans, Simon R and Houge, Gunnar and Hughes, Imelda and Jacquemont, Sebastien and Jeannet, Pierre-Yves and Jefferson, Rosalind J and Kumar, Ram and Kutschke, Georg and Lundberg, Staffan and Lourenço, Charles M and Mehta, Ramesh and Naidu, Sakkubai and Nischal, Ken K and Nunes, Luís and Ounap, Katrin and Philippart, Michel and Prabhakar, Prab and Risen, Sarah R and Schiffmann, Raphael and Soh, Calvin and Stephenson, John B. P and Stewart, Helen and Stone, Jon and Tolmie, John L and van der Knaap, Marjo S and Vieira, Jose P and Vilain, Catheline N and Wakeling, Emma L and Wermenbol, Vanessa and Whitney, Anea and Lovell, Simon C and Meyer, Stefan and Livingston, John H and Baerlocher, Gabriela M and Black, Graeme C. M and Rice, Gillian I and Crow, Yanick J and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för kvinnors och barns hälsa and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 3, pp. 338 - 342
Journal Article
International Journal of Radiation Oncology, Biology, Physics, ISSN 0360-3016, 2013, Volume 86, Issue 4, pp. 791 - 799
Journal Article
Journal Article
The Journal of Neuroscience, ISSN 0270-6474, 01/2015, Volume 35, Issue 15, pp. 6093 - 6106
Journal Article