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1Academic Journal
المؤلفون: Pearson, Madeline, McGowan, Ruth, Greene, Philip, Lam, Wayne, Miedzybrodzka, Zofia, Berg, Jonathan
المصدر: Pearson , M , McGowan , R , Greene , P , Lam , W , Miedzybrodzka , Z & Berg , J 2024 , ' Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort ' , European journal of human genetics : EJHG , vol. 32 , no. 6 , pp. 731-735 . https://doi.org/10.1038/s41431-024-01607-w
مصطلحات موضوعية: Adolescent, Adult, Aged, Child, Female, Humans, Intestinal Polyposis/genetics, Male, Middle Aged, Mutation, Neoplastic Syndromes, Hereditary/genetics, Retrospective Studies, Scotland, Smad4 Protein/genetics, Telangiectasia, Hereditary Hemorrhagic/genetics
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2Academic Journal
المؤلفون: Giraud, Sophie, Bardel, Claire, Dupuis-Girod, Sophie, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Rivière, Sophie, Saurin, Jean-Christophe, Eyries, Mélanie, Patri, Sylvie, Decullier, Evelyne, Calender, Alain, Lesca, Gaëtan
المساهمون: Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL), Service de Biostatistiques Lyon, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), CHU Tenon AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Unité neurovasculaire et troubles cognitifs EA 3808 = Neurovascular Unit and Cognitive Disorders EA 3808 (Neuvacod Poitiers ), Université de Poitiers = University of Poitiers (UP), Hôpital Saint Eloi CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Hôpital Edouard Herriot CHU - HCL, Université de Lyon, CHU Pitié-Salpêtrière AP-HP, Physiopathologie de l'immunodépression associée aux réponses inflammatoires systémiques / Pathophysiology of Injury-induced Immunosuppression (PI3), Université de Lyon-Université de Lyon, This work was supported by the Projet Hospitalier de Recherche Clinique Interrégional 2009 D50675 (Hospices Civils de Lyon).
المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-03985098 ; Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.254. ⟨10.1186/s13023-020-01533-2⟩.
مصطلحات موضوعية: ACVRL1, HHT, Rendu-Osler, Hepatic arteriovenous malformation, Modifier gene, MESH: Activin Receptors, Type II* / genetics, MESH: Endoglin / genetics, MESH: Female, MESH: Genotype, MESH: Humans, MESH: Liver* / blood supply, MESH: Lung Diseases, MESH: Mutation, MESH: Telangiectasia, Hereditary Hemorrhagic* / genetics, MESH: Vascular Diseases* / genetics, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/32962750; PUBMED: 32962750; PUBMEDCENTRAL: PMC7507685
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3Academic Journal
المصدر: Tørring , P M , Kjeldsen , A D , Ousager , L B & Brusgaard , K 2018 , ' ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia ' , Molecular Genetics & Genomic Medicine , vol. 6 , no. 1 , pp. 121-125 . https://doi.org/10.1002/mgg3.361
مصطلحات موضوعية: Journal Article, HHT, genetic testing, mosaicism, mosaic, mutational mosaicism, hereditary hemorrhagic telangiectasia, ENG, Frameshift Mutation, Exons, Humans, Activin Receptors, Type II/genetics, Telangiectasia, Hereditary Hemorrhagic/genetics, Pedigree, Base Sequence, Smad4 Protein/genetics, Adult, Female, Aged, Mutation, Endoglin/genetics
وصف الملف: application/pdf
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4Report
المؤلفون: Jelsig, Anne Marie, Törring, Pernille Mathiesen, Wikman, Friedrik, Bau Mortensen, Michael, Qvist, Niels, Ousager, Lilian Bomme
المصدر: Ugeskrift for Laeger. 176(22):2081
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5Academic Journal
المؤلفون: Peacock, Hanna M, Caolo, Vincenza, Jones, Elizabeth A V
المصدر: Peacock , H M , Caolo , V & Jones , E A V 2016 , ' Arteriovenous malformations in hereditary haemorrhagic telangiectasia : looking beyond ALK1-NOTCH interactions ' , Cardiovascular Research , vol. 109 , no. 2 , pp. 196-203 . https://doi.org/10.1093/cvr/cvv264
مصطلحات موضوعية: Activin Receptors, Type II/metabolism, Animals, Arteriovenous Malformations/genetics, Capillaries/metabolism, Humans, Receptors, Notch/genetics, Signal Transduction/physiology, Telangiectasia, Hereditary Hemorrhagic/genetics
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6Academic Journal
المؤلفون: Pawlikowska, Ludmila, Nelson, Jeffrey, Guo, Diana E, McCulloch, Charles E, Lawton, Michael T, Young, William L, Kim, Helen, Faughnan, Marie E
المصدر: Neurosurgery Articles
مصطلحات موضوعية: arteriovenous malformation, genetic modifier, hereditary hemorrhagic telangiectasia, phenotype, vascular malformation, Activin Receptors, Type II (genetics), Adult, Aged, Antigens, CD (genetics), Brain (blood supply, metabolism, pathology), Endoglin, Female, Gene Expression, Heterozygote, Humans, Liver (blood supply, Logistic Models, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Receptors, Cell Surface (genetics), Telangiectasia, Hereditary Hemorrhagic (genetics
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7Academic Journal
المؤلفون: Xu, Bin, Wu, Yong Qin, Huey, Madeleine, Arthur, Helen M, Marchuk, Douglas A, Hashimoto, Tomoki, Young, William L, Yang, Guo-Yuan
المصدر: Translational Neuroscience
مصطلحات موضوعية: Animals, Antigens, CD, Cerebrovascular Circulation, Endoglin, Genetic Vectors, Humans, Mice, Inbred C57BL, Microcirculation, Protein Serine-Threonine Kinases (metabolism), Receptor, Transforming Growth Factor-beta Type I, Receptors, Cell Surface, Transforming Growth Factor beta, Telangiectasia, Hereditary Hemorrhagic (genetics, metabolism, pathology), Vascular Cell Adhesion Molecule-1 (genetics, metabolism), Vascular Endothelial Growth Factor A (metabolism), Vascular Endothelial Growth Factor Receptor-2 (metabolism)
Relation: https://scholar.barrowneuro.org/neurobiology/1708; https://doi.org/10.1097/01.WCB.0000107730.66603.51
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8
المؤلفون: Thomas Vanassche, T.J.L. de Ravel, Peter Verhamme, Christophe Vandenbriele, Kathelijne Peerlinck
المساهمون: Clinical sciences, Medical Genetics
المصدر: Acta Clinica Belgica. 69:139-141
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Pulmonary Veins/abnormalities, Activin Receptors, Type II, Disease, Pulmonary Artery, Arteriovenous Fistula/genetics, Telangiectasia, Hereditary Hemorrhagic/genetics, Pathogenesis, Exon, medicine.artery, otorhinolaryngologic diseases, medicine, Humans, Activin Receptors, Type II/genetics, Hereditary haemorrhagic telangiectasia, Pulmonary Artery/abnormalities, business.industry, ACVRL1, Exons, General Medicine, Middle Aged, ACVRL1 gene, Pulmonary Veins, Arteriovenous Fistula, Mutation, Pulmonary artery, Female, Telangiectasia, Hereditary Hemorrhagic, business, Novel mutation
وصف الملف: Print-Electronic
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9
المؤلفون: Hanséus, Katarina, Björkhem, Gudrun, Brodin, L A, Pesonen, Erkki
المصدر: Pediatric Cardiology. 23(2):152-159
مصطلحات موضوعية: Infant, Newborn, Oxygen/blood, Prostheses and Implants, Pedigree, Pulmonary Artery/*abnormalities, Pulmonary Veins/*abnormalities, Hereditary Hemorrhagic/genetics, Telangiectasia, Therapeutic, Female, Human, Embolization, Case Report, Arteriovenous Malformations/*therapy, Medicin och hälsovetenskap, Klinisk medicin, Pediatrik, Medical and Health Sciences, Clinical Medicine, Pediatrics
URL الوصول: https://lup.lub.lu.se/record/106072
http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11889526&dopt=Abstract
http://dx.doi.org/10.1007/s00246-001-0039-6 -
10
المؤلفون: Bennhagen, Rolf, Holje, Gunnila, Laurin, Sven, Pesonen, Erkki
المصدر: Pediatric Cardiology. 23(2):235-238
مصطلحات موضوعية: Infant, Oxygen/blood, Newborn, Pedigree, Prostheses and Implants, Pulmonary Artery/*abnormalities, Pulmonary Veins/*abnormalities, Hereditary Hemorrhagic/genetics, Telangiectasia, Human, Therapeutic, Female, Embolization, Case Report, Arteriovenous Malformations/*therapy, Medicin och hälsovetenskap, Klinisk medicin, Pediatrik, Medical and Health Sciences, Clinical Medicine, Pediatrics
URL الوصول: https://lup.lub.lu.se/record/106066
http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11889545&dopt=Abstract
http://dx.doi.org/10.1007/s00246-001-0056-5 -
11Academic Journal
المؤلفون: Alaa El Din, Ferdos, Patri, Sylvie, Thoreau, Vincent, Rodriguez-Ballesteros, Montserrat, Hamade, Eva, Bailly, Sabine, Gilbert-Dussardier, Brigitte, Abou Merhi, Raghida, Kitzis, Alain
المساهمون: Université de Poitiers = University of Poitiers (UP), Faculty of Sciences Lebanese University, الجامعة اللبنانية بيروت = Lebanese University Beirut = Université libanaise Beyrouth (LU / ULB), Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Unité neurovasculaire et troubles cognitifs EA 3808 = Neurovascular Unit and Cognitive Disorders EA 3808 (Neuvacod Poitiers ), Biologie du Cancer et de l'Infection (BCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 )-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)
المصدر: ISSN: 1932-6203.
مصطلحات موضوعية: MESH: Activin Receptors, Type II / genetics, MESH: Base Sequence, MESH: RNA Splicing / genetics, MESH: Subcellular Fractions / metabolism, MESH: Telangiectasia, Hereditary Hemorrhagic / genetics, MESH: Blotting, Western, MESH: Cohort Studies, MESH: Growth Differentiation Factor 2 / pharmacology, MESH: HeLa Cells, MESH: Humans, MESH: Molecular Sequence Data, MESH: Mutation / genetics, MESH: Protein Transport / drug effects, [SDV.GEN]Life Sciences [q-bio]/Genetics
Relation: info:eu-repo/semantics/altIdentifier/pmid/26176610; PUBMED: 26176610; PUBMEDCENTRAL: PMC4503601
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12Academic Journal
المؤلفون: Clermont, Frédéric, Benzinou, Michael, Letteboer, Tom G W, Kim, Jai-Hyun, Espejel, Silvia, Harradine, Kelly A, Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Zaid, Musa, Aouizerat, Bradley E, van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Plauchu, Henri, Hughes, Christopher C W, Westermann, Cornelius J J, Akhurst, Rosemary J
المصدر: Nature communications, 3
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Activin Receptors, Type I -- metabolism, Type II -- metabolism, Animals, Chromosome Mapping, Ephrin-B2 -- metabolism, Exons, Female, Genetic Variation, Haplotypes, Humans, Male, Mice, Congenic, Inbred C57BL, Transgenic, Models, Genetic, Mutation, Phenotype, Protein Tyrosine Phosphatases, Non-Receptor -- genetics -- physiology, Species Specificity, Telangiectasia, Hereditary Hemorrhagic -- genetics, Transforming Growth Factor beta -- metabolism
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1038/ncomms1633; uri/info:pii/ncomms1633; uri/info:pmid/22233626; https://dipot.ulb.ac.be/dspace/bitstream/2013/133095/3/doi_115429.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/133095
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13Report
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14Academic Journal
المؤلفون: Brakensiek, K, Frye-Boukhriss, H, Mälzer, M, Abramowicz, Marc, Bahr, M J, von Beckerath, N, Bergmann, C, Caselitz, M, Holinski-Feder, Elke, Muschke, P, Oexle, K, Strobl-Wildemann, G, Wolff, G, El-Harith, E A, Stuhrmann, Manfred
المصدر: Clinical genetics, 74 (2
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Activin Receptors, Type II -- genetics, Adolescent, Adult, Antigens, CD -- genetics, Arteriovenous Malformations -- genetics, Cohort Studies, DNA Mutational Analysis, Female, Genetic Testing, Germany, Humans, Liver Circulation -- genetics, Liver Diseases -- genetics, Male, Middle Aged, Mutation, Receptors, Cell Surface -- genetics, Telangiectasia, Hereditary Hemorrhagic -- complications, Hereditary Hemorrhagic -- genetics
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1111/j.1399-0004.2008.01029.x; uri/info:pii/CGE1029; uri/info:pmid/18498373; uri/info:scp/47149094695; https://dipot.ulb.ac.be/dspace/bitstream/2013/53601/3/53601.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53601
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15Academic Journal
المؤلفون: Devière, Jacques, Brohée, Dany, Hiden, M., Bourgeois, Nadine
المصدر: Journal of clinical gastroenterology, 10 (1
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Aged, Child, Female, Humans, Liver -- pathology, Liver Cirrhosis -- genetics -- pathology, Male, Pedigree, Telangiectasia, Hereditary Hemorrhagic -- genetics -- pathology
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:pmid/3356877; uri/info:scp/0023884123; local/VX-003530; https://dipot.ulb.ac.be/dspace/bitstream/2013/83563/4/a6a6e481-1068-4f78-8fb5-47602f24e66f.txt; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/83563
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16
المؤلفون: M. Hiden, Nadine Bourgeois, Jacques Devière, Dany Brohée
المصدر: Journal of clinical gastroenterology, 10 (1
مصطلحات موضوعية: Liver Cirrhosis, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Cirrhosis, Fulminant, Autopsy, Gastroenterology, Fibrosis, Internal medicine, Telangiectasia, Hereditary Hemorrhagic -- genetics -- pathology, otorhinolaryngologic diseases, medicine, Humans, Child, Fulminant hepatitis, Telangiectasia, Aged, Liver Cirrhosis -- genetics -- pathology, business.industry, Sciences bio-médicales et agricoles, Angiomatosis, medicine.disease, humanities, Pedigree, Liver, Telangiectasia, Hereditary Hemorrhagic, Female, Viral disease, medicine.symptom, business, Liver -- pathology
وصف الملف: 1 full-text file(s): application/pdf