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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
Journal Article
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
Journal Article
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
Journal Article
Respiratory research, ISSN 1465-9921, 06/2010, Volume 11, Issue 1, pp. 73 - 73
Life Sciences & Biomedicine | Respiratory System | Science & Technology | Age Factors | Blood Pressure - genetics | Humans | Middle Aged | Hypertension, Pulmonary - physiopathology | Male | Young Adult | Lung Transplantation | Time Factors | Adult | Female | France | Severity of Illness Index | Hypertension, Pulmonary - mortality | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Risk Assessment | Risk Factors | Hypertension, Pulmonary - surgery | Kaplan-Meier Estimate | Hypertension, Pulmonary - genetics | Phenotype | Activin Receptors, Type II - genetics | Sex Factors | Mutation | Gene mutations | Genetic aspects | Diagnosis | Research | Health aspects | Pulmonary hypertension | Risk factors | Hypertension | Statistical analysis | Disease | Pulmonary arteries | Nitric oxide | Family medical history | Gender | Intubation | Manuscripts | Index Medicus | Blood Pressure | Hypertension, Pulmonary | Life Sciences | Pulmonology and respiratory tract | Bone Morphogenetic Protein Receptors, Type II | Human health and pathology | Activin Receptors, Type II
Journal Article
Circulation research, ISSN 0009-7330, 08/2008, Volume 103, Issue 4, pp. 432 - 440
Endothelial cell growth-APJ | Hypoxia | Transcriptional regulation | Zebrafish model | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Vertebrates: cardiovascular system | Endothelium, Vascular - cytology | Cell Proliferation | Muscle, Smooth, Vascular - metabolism | Humans | Molecular Sequence Data | Male | Hypoxia - metabolism | Intercellular Signaling Peptides and Proteins - metabolism | Transfection | Hypoxia-Inducible Factor 1, alpha Subunit - metabolism | Apelin | Amino Acid Sequence | Zebrafish Proteins - metabolism | Mice, Inbred C57BL | Cells, Cultured | Intercellular Signaling Peptides and Proteins - genetics | Zebrafish | Adipokines | Muscle, Smooth, Vascular - cytology | Chemokines - genetics | Mice, Knockout | Carrier Proteins - genetics | Neovascularization, Physiologic - physiology | Animals | Carrier Proteins - metabolism | Endothelium, Vascular - metabolism | Chemokines - metabolism | Mice | Zebrafish Proteins - genetics | Regeneration - immunology | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 5, pp. 518 - 521
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | RNA, Messenger - genetics | Familial Primary Pulmonary Hypertension | Genotype | Hypertension, Pulmonary - genetics | Reverse Transcriptase Polymerase Chain Reaction | Case-Control Studies | Immunoenzyme Techniques | Phenotype | Pulmonary Artery - metabolism | Endothelium, Vascular - metabolism | Polymorphism, Single Nucleotide - genetics | Endothelium, Vascular - pathology | Genome, Human | Quantitative Trait Loci | Real-Time Polymerase Chain Reaction | Pulmonary Artery - pathology | Development and progression | Genetic aspects | Disease susceptibility | Research | Genomics | Pulmonary hypertension | Genomes | Mutation | Grants | Pulmonary arteries | Rodents | Quality control | Index Medicus | Life Sciences | Human health and pathology
Journal Article
Histopathology, ISSN 0309-0167, 03/2020, Volume 76, Issue 4, pp. 540 - 549
PIK3CA‐related overgrowth syndrome | PTEN hamartoma of soft tissue | PTEN hamartoma tumour syndrome | soft tissue angiomatosis | PIK3CA-related overgrowth syndrome | Pathology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Penis | Medical records | Angiomatosis | Children | Mutation | Gene deletion | Lesions | Neoplasia | Patients | PTEN protein | Genetic screening | Tumors | Index Medicus | Life Sciences | Human health and pathology
Journal Article
American journal of respiratory and critical care medicine, ISSN 1073-449X, 03/2020, Volume 201, Issue 5, pp. 575 - 585
GDF2 | BMP10 | Pulmonary arterial hypertension | BMP9 | Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Growth Differentiation Factor 2 - metabolism | Pulmonary Arterial Hypertension - genetics | Humans | Middle Aged | Growth Differentiation Factor 2 - genetics | Male | Mutation, Missense | Case-Control Studies | DNA Copy Number Variations | Protein Transport | Bone Morphogenetic Proteins - metabolism | Pulmonary Arterial Hypertension - metabolism | Sex Factors | Adult | Female | Heterozygote | Bone Morphogenetic Proteins - genetics | Morphogenesis | Proteins | Mutation | Pulmonary hypertension | Index Medicus | Abridged Index Medicus | Life Sciences | Original | pulmonary arterial hypertension
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Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases
The European respiratory journal, ISSN 0903-1936, 03/2019, Volume 53, Issue 3
Journal Article
Gastric Cancer, ISSN 1436-3291, 7/2019, Volume 22, Issue 4, pp. 899 - 903
Medicine & Public Health | CDH1 | Hereditary cancer | Gastroenterology | Abdominal Surgery | CTNNA1 | Signet-ring cell | Oncology | Cancer Research | Diffuse gastric cancer | Surgical Oncology | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Stomach Neoplasms - genetics | Genetic Predisposition to Disease | Carcinoma, Signet Ring Cell - pathology | Prognosis | Follow-Up Studies | alpha Catenin - metabolism | Carcinoma, Signet Ring Cell - surgery | Carcinoma, Signet Ring Cell - metabolism | Humans | Middle Aged | Stomach Neoplasms - metabolism | Male | Stomach Neoplasms - pathology | Gastrectomy | Carcinoma, Signet Ring Cell - genetics | Pedigree | Germ-Line Mutation | Adult | Female | Retrospective Studies | alpha Catenin - genetics | Asymptomatic Diseases - therapy | Stomach Neoplasms - surgery | Gene mutations | Genetic aspects | Endoscopy | Mutation | Stomach cancer | Gastric cancer | E-cadherin | Index Medicus | Life Sciences | Human health and pathology | Genetics | Hépatology and Gastroenterology | Human genetics | Cancer
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