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1. Full Text A Novel Channelopathy in Pulmonary Arterial Hypertension
by Ma, Lijiang and Roman-Campos, Danilo and Austin, Eric D and Eyries, Mélanie and Sampson, Kevin S and Soubrier, Florent and Germain, Marine and Trégouët, David-Alexandre and Borczuk, Alain and Rosenzweig, Erika Berman and Girerd, Barbara and Montani, David and Humbert, Marc and Loyd, James E and Kass, Robert S and Chung, Wendy K
The New England journal of medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 4, pp. 351 - 361
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases | Medical sciences | Pneumology | Chlorobenzoates - therapeutic use | Humans | ortho-Aminobenzoates - therapeutic use | Molecular Sequence Data | Male | Mutation, Missense | Exome | Nerve Tissue Proteins - chemistry | Female | Hypertension, Pulmonary - drug therapy | Amino Acid Sequence | Genetic Predisposition to Disease | Lung - pathology | Nerve Tissue Proteins - physiology | Potassium Channels, Tandem Pore Domain - genetics | Familial Primary Pulmonary Hypertension | Hypertension, Pulmonary - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Channelopathies - genetics | Channelopathies - drug therapy | Pedigree | Potassium Channels, Tandem Pore Domain - physiology | Heterozygote | Potassium Channels, Tandem Pore Domain - chemistry | Cinnamates - therapeutic use | Causes of | Genetic aspects | Research | Genetic variation | Pulmonary hypertension | Hypertension | Proteins | Phospholipase | Missense mutation | Bone morphogenetic protein receptor type II | Channelopathy | Genes | Calcium channels (voltage-gated) | Mutation | Potassium channels | Drug therapy | Index Medicus | Abridged Index Medicus
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2. Full Text EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension
by Eyries, Mélanie and Montani, David and Girerd, Barbara and Perret, Claire and Leroy, Anne and Lonjou, Christine and Chelghoum, Nadjim and Coulet, Florence and Bonnet, Damien and Dorfmüller, Peter and Fadel, Elie and Sitbon, Olivier and Simonneau, Gérald and Tregouët, David-Alexandre and Humbert, Marc and Soubrier, Florent
Nature genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 1, pp. 65 - 69
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pulmonary Veno-Occlusive Disease - physiopathology | Humans | Middle Aged | Protein-Serine-Threonine Kinases - genetics | Hypertension, Pulmonary - physiopathology | Male | Chromosome Mapping | Young Adult | Homozygote | Pulmonary Veno-Occlusive Disease - genetics | Pedigree | Adult | Female | Mutation | Protein-Serine-Threonine Kinases - metabolism | Causes of | Physiological aspects | Genetic aspects | Research | Gene mutations | Pulmonary hypertension | Studies | Genetic counseling | Genes | Tomography | Software | Genomes | Kinases | Experiments | Siblings | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Genomics
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3. Haemodynamic definitions and updated clinical classification of pulmonary hypertension
by Simonneau, Gérald and Montani, David and Celermajer, David S and Denton, Christopher P and Gatzoulis, Michael A and Krowka, Michael and Williams, Paul G and Souza, Rogerio
The European respiratory journal, 01/2019, Volume 53, Issue 1
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4. Full Text Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation
by Girerd, Barbara and Montani, David and Coulet, Florence and Sztrymf, Benjamin and Yaici, Azzeddine and Jaïs, Xavier and Tregouet, David and Reis, Abilio and Drouin-Garraud, Valérie and Fraisse, Alain and Sitbon, Olivier and O'Callaghan, Dermot S and Simonneau, Gérald and Soubrier, Florent and Humbert, Marc
American journal of respiratory and critical care medicine, ISSN 1073-449X, 04/2010, Volume 181, Issue 8, pp. 851 - 861
BMPR2 | Hereditary hemorrhagic telangiectasia | Hemodynamic | Pulmonary hypertension | Bone morphogenetic protein receptor type 2 | Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Blood Pressure | Age Distribution | Humans | Middle Aged | Pulmonary Wedge Pressure | Child, Preschool | Hypertension, Pulmonary - physiopathology | Infant | Male | Young Adult | Point Mutation - genetics | Exercise Test - methods | Adult | Female | Registries | France | Child | Vascular Resistance | Bone Morphogenetic Protein Receptors, Type II - genetics | Exercise Test - statistics & numerical data | Hypertension, Pulmonary - genetics | Pulmonary Artery | Oxygen - blood | Activin Receptors, Type II - genetics | Adolescent | Survival Analysis | Sequence Deletion - genetics | Index Medicus | Abridged Index Medicus
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5. Full Text De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
by Carss, Keren J and Charles, Perinne and Pfundt, Rolph and van Bokhoven, Hans and van Ravenswaaij-Arts, Conny and Markus, Hugh S and Perry, David J and Thrasher, Adrian and Bradley, John R and Fletcher, Debra and Veltman, Marijke and Davis, John and Frary, Amy and Martin, Jennifer M and Bariana, Tadbir K and Collins, Janine and Favier, Remi and Hart, Daniel and Kelly, Anne M and Liesner, Ri and Mangles, Sarah and Roughley, Catherine and Tait, R. Campbell and Thachil, Jecko and Van Geet, Chris and De Vries, Minka and Furnell, Abigail and Mapeta, Rutendo and Whitehorn, Deborah and Daugherty, Louise and Hu, Fengyuan and Megy, Karyn and Tuna, Salih and von Ziegenweldt, Julie and Carss, Keren J and Haimel, Matthias and Richardson, Sylvia and Rankin, Stuart and Anderson, Julie and Stock, Sophie and Armstrong, Ruth and Bitner-Glindzicz, Maria and Brady, Angie and Clement, Emma and Firth, Helen and Flinter, Frances and French, Courtney and Holder, Muriel and Hurst, Jane and Josifova, Dragana and Krishnakumar, Deepa and Mehta, Sarju and Moore, Anthony and Reid, Evan and Scott, Richard and Thomas, Ellen and Wassmer, Evangeline and Boggard, Harm J and Corris, Paul A and Creaser-Myers, Amanda and Gall, Henning and Houweling, Arjan C and in’t Veld, Anna Huis and Ross, Rob V. Mackenzie and Soubrier, Florent and Vonk Noordegraaf, Anton and Wort, Stephen J and Antrobus, Richard and Arumugakani, Gururaj and Bibi, Shahnaz and Devlin, Lisa and Ghurye, Rohit and Grigoriadou, Sofia and Harper, Lorraine and Herwadkar, Archana and Jolles, Stephen and Kumararatne, Dinakantha and Lorenzo, Lorena and Murng, Sai and Nejentsev, Sergey and Quinti, Isabella and Samarghitean, Crina and Savic, Sinisa and Yong, Patrick and Ancliff, Phil and Layton, Mark and Mead, Adam and Roy, Noémi and Chambers, Jenny and Estiu, Cecelia and Simpson, Michael and Emmerson, Ingrid and McCarthy, Mark and Van Zuydam, Natalie and Afzal, Maryam and Colby, Elizabeth and Alavijeh, Omid S and Boycott, Kym M and Majewski, Jacek and Dyment, David and Care4Rare Canada Consortium and NIHR BioResource and Sahlgrenska akademin and Institute of Medicine, Department of Molecular and Clinical Medicine and Institutionen för medicin, avdelningen för molekylär och klinisk medicin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy
American journal of human genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 144 - 153
actin cytoskeleton | recurrent de novo truncating mutations | neurodevelopmental disorder | lamellipodia | seizures | developmental delay | WASF1 | autism | WAVE1 complex | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Young Adult | Seizures - genetics | Humans | Adult | Female | Heterozygote | Male | Mutation - genetics | Wiskott-Aldrich Syndrome Protein Family - genetics | Whole Exome Sequencing - methods | Intellectual Disability - genetics | Autism | Actin | Genomics | Polymerization | Genetic aspects | Seizures (Medicine) | Muscle proteins | Index Medicus | Report | methods | Klinisk medicin | Whole Exome Sequencing | Clinical Medicine | genetics | Mutation | Wiskott-Aldrich Syndrome Protein Family | Intellectual Disability | Seizures
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6. Full Text Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
by Graf, Stefan and Haimel, Matthias and Bleda, Marta and Hadinnapola, Charaka and Southgate, Laura and Li, Wei and Hodgson, Joshua and Liu, Bin and Salmon, Richard M and Southwood, Mark and Machado, Rajiv D and Martin, Jennifer M and Treacy, Carmen M and Yates, Katherine and Daugherty, Louise C and Shamardina, Olga and Whitehorn, Deborah and Holden, Simon and Aled, Micheala and Bogaard, Harm J and Church, Colin and Coghlan, Gerry and Condliffe, Robin and Corris, Paul A and Danesino, Cesare and Eyries, Melanie and Gall, Henning and Ghio, Stefano and Ghofrani, Hossein-Ardeschir and Gibbs, J. Simon R and Girerd, Barbara and Houweling, Arjan C and Howard, Luke and Humbert, Marc and Kiely, David G and Kovacs, Gabor and Ross, Robert V. MacKenzie and Moledina, Shahin and Montani, David and Newnham, Michael and Olschewski, Anea and Olschewski, Horst and Peacock, Anew J and Pepke-Zaba, Joanna and Prokopenko, Inga and Rhodes, Christopher J and Scelsi, Laura and Seeger, Werner and Soubrier, Florent and Stein, Dan F and Suntharalingam, Jay and Swietlik, Emilia M and Toshner, Mark R and van Heel, David A and Noordegraaf, Anton Vonk and Waisfisz, Quinten and Wharton, John and Wort, Stephen J and Ouwehand, Willem H and Soranzo, Nicole and Lawrie, Allan and Upton, Paul D and Wilkins, Martin R and Trembath, Richard C and Morrell, Nicholas W
Nature communications, ISSN 2041-1723, 04/2018, Volume 9, Issue 1, pp. 1416 - 16
a_open_article_in_open_journal | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prognosis | Humans | Male | Familial Primary Pulmonary Hypertension - diagnosis | SOXF Transcription Factors - metabolism | Aquaporin 1 - metabolism | Case-Control Studies | Familial Primary Pulmonary Hypertension - metabolism | Membrane Transport Proteins - genetics | Base Sequence | HEK293 Cells | Adult | Female | Growth Differentiation Factors - genetics | Membrane Transport Proteins - metabolism | Familial Primary Pulmonary Hypertension - pathology | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Signal Transduction | Gene Expression Regulation | Adenosine Triphosphatases - metabolism | Models, Molecular | Familial Primary Pulmonary Hypertension - genetics | Bone Morphogenetic Protein Receptors, Type II - metabolism | Membrane Transport Proteins - chemistry | Whole Genome Sequencing | Aquaporin 1 - chemistry | Aquaporin 1 - genetics | Growth Differentiation Factors - metabolism | Transforming Growth Factor beta - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mutation | SOXF Transcription Factors - genetics | Transforming Growth Factor beta - metabolism | SOXF Transcription Factors - chemistry | Growth Differentiation Factors - chemistry | Hypertension | Bone morphogenetic protein receptor type II | Secretion | Transforming growth factor | Genes | Genomes | Heritability | Aquaporin 1 | Pulmonary hypertension | Gene sequencing | Index Medicus
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7. Full Text Seeing the forest for the (arterial) tree: Vascular pruning and the chronic obstructive pulmonary disease pulmonary vascular phenotype
by Weatherald, Jason and Montani, David and Humbert, Marc
American journal of respiratory and critical care medicine, ISSN 1073-449X, 08/2019, Volume 200, Issue 4, pp. 406 - 408
Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Heart | Transplants & implants | Mortality | Lung diseases | Cardiovascular disease | Medical diagnosis | Pulmonary hypertension | Travel | Genotype & phenotype | Medical prognosis | Hypoxia | Chronic obstructive pulmonary disease | Thromboembolism | Health risk assessment | Cardiology | Emphysema | Smoking | Index Medicus | Abridged Index Medicus
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8. Endothelial cell dysfunction: a major player in SARS-CoV-2 infection (COVID-19)?
by Huertas, Alice and Montani, David and Savale, Laurent and Pichon, Jeremie and Tu, Ly and Parent, Florence and Guignabert, Christophe and Humbert, Marc
The European respiratory journal, ISSN 0903-1936, 07/2020, Volume 56, Issue 1
Life Sciences & Biomedicine | Respiratory System | Science & Technology | COVID-19 | Coronavirus Infections | Intensive Care Units | SARS-CoV-2 | Endothelial Cells | Pandemics | Venous Thromboembolism | Pneumonia, Viral - epidemiology | Humans | Betacoronavirus
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9. Risk assessment, prognosis and guideline implementation in pulmonary arterial hypertension
by Boucly, Athénaïs and Weatherald, Jason and Savale, Laurent and Jaïs, Xavier and Cottin, Vincent and Prevot, Grégoire and Picard, François and De Groote, Pascal and Jevnikar, Mitja and Bergot, Emmanuel and Chaouat, Ari and Chabanne, Céline and Bourdin, Arnaud and Parent, Florence and Montani, David and Simonneau, Gérald and Humbert, Marc and Sitbon, Olivier
The European respiratory journal, ISSN 0903-1936, 08/2017, Volume 50, Issue 2, pp. 1700889 - 1700889
Life Sciences & Biomedicine | Respiratory System | Science & Technology | Hypertension, Pulmonary - mortality | Multivariate Analysis | France - epidemiology | Hypertension, Pulmonary - diagnosis | Hypertension, Pulmonary - classification | Prognosis | World Health Organization | Risk Assessment | Humans | Middle Aged | Male | Biomarkers - blood | Lung Transplantation | Atrial Pressure | Survival Analysis | Adult | Female | Registries | Aged | Hypertension, Pulmonary - drug therapy | Retrospective Studies | Walk Test | Natriuretic Peptide, Brain - blood | Practice Guidelines as Topic | Hypertension | Brain natriuretic peptide | Transplants & implants | Syngeneic grafts | Lung transplantation | Transplantation | Survival | Pulmonary hypertension | Medical prognosis | Risk assessment | Diagnosis | Heart diseases
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10. Full Text Pulmonary hypertension complicating pulmonary artery involvement in pseudoxanthoma elasticum
by Montani, David and Jaïs, Xavier and Humbert, Marc and Sitbon, Oliver
American journal of respiratory and critical care medicine, ISSN 1073-449X, 09/2020, Volume 202, Issue 5, pp. E90 - E91
Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Proteins | Chronic obstructive pulmonary disease | Genetic disorders | Mutation | Connective tissue diseases | Pulmonary hypertension | Index Medicus | Abridged Index Medicus
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11. Full Text Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study
by Montani, David, MD and Girerd, Barbara, PhD and Jaïs, Xavier, MD and Levy, Marilyne, MD and Amar, David, MD and Savale, Laurent, MD and Dorfmüller, Peter, MD and Seferian, Andrei, MD and Lau, Edmund M, MD and Eyries, Mélanie, PhD and Le Pavec, Jérôme, MD and Parent, Florence, MD and Bonnet, Damien, MD and Soubrier, Florent, MD and Fadel, Elie, MD and Sitbon, Olivier, MD and Simonneau, Gérald, MD and Humbert, Marc, Prof
The lancet respiratory medicine, ISSN 2213-2600, 2017, Volume 5, Issue 2, pp. 125 - 134
Pulmonary/Respiratory | Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Hemangioma, Capillary - therapy | Lung Neoplasms - mortality | Humans | Middle Aged | Child, Preschool | Infant | Male | Familial Primary Pulmonary Hypertension - therapy | Hemangioma, Capillary - genetics | Hypertension, Pulmonary - therapy | Young Adult | Pulmonary Veno-Occlusive Disease - genetics | Lung Transplantation | Hemangioma, Capillary - mortality | Aged, 80 and over | Adult | Female | Child | Infant, Newborn | Lung Neoplasms - genetics | Hypertension, Pulmonary - mortality | Pulmonary Veno-Occlusive Disease - therapy | Pulmonary Veno-Occlusive Disease - mortality | Protein-Serine-Threonine Kinases - genetics | Familial Primary Pulmonary Hypertension - genetics | Hypertension, Pulmonary - genetics | Treatment Outcome | Lung Neoplasms - therapy | Disease-Free Survival | Phenotype | Familial Primary Pulmonary Hypertension - mortality | Adolescent | Age of Onset | Alleles | Aged | Mutation | Genetic aspects | Research | Gene mutations | Pulmonary hypertension | Patient outcomes | Index Medicus
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