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retrospective studies (6) 6
5-aminolevulinate synthetase - genetics (5) 5
aged, 80 and over (5) 5
amino acid substitution (5) 5
biochemistry & molecular biology (5) 5
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1. Full Text Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry
by Mahlaoui, Nizar and Picard, Capucine and Bach, Perrine and Costes, Laurence and Courteille, Virginie and Ranohavimparany, Anja and Alcaïs, Alexandre and Jais, Jean-Philippe and Fischer, Alain and Bellanné-Chantelot, Christine and Bustamante, Jacinta and Chollet-Martin, Sylvie and Drouet, Christian and Fremeaux-Bacchi, Véronique and Kannengiesser, Caroline and Girardin, Virginie and Lambert, Nathalie and Proulle, Valérie and Rosain, Jérémie and Stasia, Marie José and Lyonnet, Dominique Stoppa and Theodorou, Ioannis and Abou-Chahla, Wadih and Adoue, Daniel and Aladjidi, Nathalie and Amoura, Zahir and Armari-Alla, Corinne and Bader-Meunier, Brigitte and Barlogis, Vincent and Bayart, Sophie and Bertrand, Yves and Blanche, Stéphane and Bodet, Damien and Bonnotte, Bernard and Borie, Raphaël and Boutard, Patrick and Briandet, Claire and Brion, Jean-Paul and Brouard, Jacques and Carausu, Liana and Catherinot, Emilie and Cheikh, Nathalie and Cohen-Beaussant, Sarah and Couderc, Louis-Jean and Cougoul, Pierre and Couillault, Gérard and de Saint Basile, Geneviève and Devoldere, Catherine and Deville, Anne and Dore, Eric and Dulieu, Fabienne and Durieu, Isabelle and Werle, Natacha Entz and Fieschi, Claire and Fouyssac, Fanny and Frange, Pierre and Gajdos, Vincent and Galicier, Lionel and Gandemer, Virginie and Gardembas, Martine and Gaud, Catherine and Grosbois, Bernard and Guffroy, Aurélien and Guitton, Corinne and Guillerm, Gaelle and Hachulla, Eric and Hamidou, Mohamed and Haro, Sophie and Hatchuel, Yves and Hermine, Olivier and Hoarau, Cyrille and Hoen, Bruno and Hot, Arnaud and Humbert, Sébastien and Jaccard, Arnaud and Jacquot, Serge and Jaussaud, Rolland and Jeandel, Pierre-Yves and Jeziorski, Eric and Kebaili, Kamila and Korganow, Anne-Sophie and Lambotte, Olivier and Lanternier, Fanny and Larroche, Claire and Le Quellec, Alain and Le Moigne, Emmanuelle and Le Moing, Vincent and Launay, David and Lebranchu, Yvon and Lecuit, Marc and Lefevre, Guillaume and Lemal, Richard and Li-Thiao-Te, Valérie and Lortholary, Olivier and Malphettes, Marion and Marie-Cardine, Aude and Silva, Nicolas Martin and Masseau, Agathe and Massot, Christian and Mazingue, Françoise and ... and CEREDIH French PID Study Grp and CEREDIH French PID study group
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2019, Volume 143, Issue 4, pp. 1646 - 1649.e10
[...]the (genetic) diagnostic delay was long for many patients (see below). [...]we looked at whether the patients' region of residence within France (which... 
ALLERGY | IMMUNOLOGY | INBORN-ERRORS | Multiple births | Immunoglobulins | Disease | Genomics | Overseas | Identification | Genomes | Medical screening | Embryos | Patients | Genetic screening | Gene sequencing | Next-generation sequencing | Genetic counseling | Immunology | Diagnostic systems | Mutation | Diagnosis | Life Sciences | Biomolecules | Biochemistry, Molecular Biology
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2. Full Text Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans
by Daher, Raed and Kannengiesser, Caroline and Houamel, Dounia and Lefebvre, Thibaud and Bardou-Jacquet, Edouard and Ducrot, Nicolas and de Kerguenec, Caroline and Jouanolle, Anne-Marie and Robreau, Anne-Marie and Oudin, Claire and Le Gac, Gerald and Moulouel, Boualem and Loustaud-Ratti, Veronique and Bedossa, Pierre and Valla, Dominique and Gouya, Laurent and Beaumont, Carole and Brissot, Pierre and Puy, Hervé and Karim, Zoubida and Tchernitchko, Dimitri
Gastroenterology, ISSN 0016-5085, 2016, Volume 150, Issue 3, pp. 672 - 683.e4
Background & Aims Hereditary hemochromatosis is a heterogeneous group of genetic disorders characterized by parenchymal iron overload. It is caused by... 
Gastroenterology and Hepatology | Signal Transduction | Genetic Analysis | Bone Morphogenetic Protein | HH | DEFICIENCY ANEMIA | SLC11A3 | HFE HEMOCHROMATOSIS | PROTEIN | FERROPORTIN | INFLAMMATION | DISEASE | AUTOSOMAL-DOMINANT HEMOCHROMATOSIS | HEREDITARY HEMOCHROMATOSIS | GASTROENTEROLOGY & HEPATOLOGY | EXPRESSION | Immunohistochemistry | Humans | Middle Aged | Opossums | Hemochromatosis - blood | Male | Hemochromatosis - metabolism | Mutation, Missense | Case-Control Studies | Tandem Mass Spectrometry | Transfection | Bone Morphogenetic Protein 6 - genetics | Ferritins - blood | DNA Mutational Analysis | Chromatography, Liquid | Female | Hemochromatosis - genetics | Cell Line | Genetic Predisposition to Disease | Genetic Association Studies | Hepcidins - biosynthesis | Liver - metabolism | Smad Proteins, Receptor-Regulated - metabolism | Hepcidins - blood | Iron - metabolism | Phenotype | Animals | Bone Morphogenetic Protein 6 - metabolism | Biopsy | Heterozygote | Aged | Bone morphogenetic proteins | Genetic aspects | Peptides | Molecular genetics | Liver | Index Medicus | Abridged Index Medicus | Life Sciences
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3. Full Text Somatic genetic rescue in Mendelian haematopoietic diseases
by Revy, Patrick and Kannengiesser, Caroline and Fischer, Alain
Nature reviews. Genetics, ISSN 1471-0056, 06/2019
Somatic mutations occur spontaneously in normal individuals and accumulate throughout life. These genetic modifications contribute to progressive ageing... 
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4. Full Text Pulmonary fibrosis: Genetic analysis of telomere-related genes, telomere length measurement-or both?
: Editorial
by Kannengiesser, Caroline and Borie, Raphael and Renzoni, Elisabetta A
Respirology, ISSN 1323-7799, 02/2019, Volume 24, Issue 2, pp. 97 - 98
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5. Full Text Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
by Caroline Kannengiesser and Mayka Sanchez and Marion Sweeney and Gilles Hetet and Briedgeen Kerr and Erica Moran and Jose L. Fuster Soler and Karim Maloum and Thomas Matthes and Caroline Oudot and Axelle Lascaux and Corinne Pondarré and Julian Sevilla Navarro and Sudharma Vidyatilake and Carole Beaumont and Bernard Grandchamp and Alison May
Haematologica, ISSN 0390-6078, 06/2011, Volume 96, Issue 6, pp. 808 - 813
Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload,... 
Missense mutations | SLC25A38 | Congenital sideroblastic anemia | congenital sideroblastic anemia | HEPCIDIN | MUTATIONS | missense mutations | IDENTIFICATION | HEMATOLOGY | EXPRESSION | CARRIER | Amino Acid Sequence | Mitochondrial Membrane Transport Proteins - chemistry | Mitochondrial Membrane Transport Proteins - metabolism | Protein Structure, Secondary | Exons | Humans | Child, Preschool | Models, Molecular | Molecular Sequence Data | Genotype | Infant | Mutation, Missense - genetics | Mitochondrial Membrane Transport Proteins - genetics | Anemia, Sideroblastic - genetics | Sequence Alignment | Infant, Newborn | Amino Acid Substitution | Index Medicus | Original
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6. Full Text A TINF2 mutation with somatic reversion may be revealed in adults with pulmonary fibrosis
by Kannengiesser, Caroline and Borie, Raphael and Revy, Patrick
European Respiratory Journal, ISSN 0903-1936, 07/2014, Volume 44, Issue 1, pp. 270 - 271
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7. Full Text Pulmonary fibrosis: Genetic analysis of telomere‐related genes, telomere length measurement‐or both?
by Kannengiesser, Caroline and Borie, Raphael and Renzoni, Elisabetta A
Respirology, ISSN 1323-7799, 02/2019, Volume 24, Issue 2, pp. 97 - 98
See related Article 
interstitial lung disease | genetics | pulmonary fibrosis | RESPIRATORY SYSTEM | Lung diseases | Genetic analysis | Fibrosis
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8. Full Text The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism
by Ka, Chandran and Guellec, Julie and Pepermans, Xavier and Kannengiesser, Caroline and Ged, Cécile and Wuyts, Wim and Cassiman, David and de Ledinghen, Victor and Varet, Bruno and de Kerguenec, Caroline and Oudin, Claire and Gourlaouen, Isabelle and Lefebvre, Thibaud and Férec, Claude and Callebaut, Isabelle and Gac, Gérald Le
Haematologica, ISSN 0390-6078, 10/2018, Volume 103, Issue 11, pp. 1796 - 1805
Hemochromatosis type 4 is one of the most common causes of primary iron overload, after I/Fr-related h.emochromatosis. It is an autosomal dominant disorder,... 
DIAGNOSIS | GUIDELINES | HEPCIDIN | SEQUENCE VARIANTS | MAJOR FACILITATOR SUPERFAMILY | HEREDITARY HEMOCHROMATOSIS | HEMATOLOGY | IRON OVERLOAD | FERROPORTIN DISEASE
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9. Full Text Reply
by Karim, Zoubida and Puy, Hervé and Beaumont, Carole and Gouya, Laurent and Kannengiesser, Caroline
Gastroenterology, ISSN 0016-5085, 10/2016, Volume 151, Issue 4, pp. 771 - 772
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10. Full Text Reply
by Karim, Zoubida and Puy, Hervé and Beaumont, Carole and Gouya, Laurent and Kannengiesser, Caroline
Gastroenterology, ISSN 0016-5085, 10/2016, Volume 151, Issue 4, pp. 771 - 772
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11. Full Text Reply
by Karim, Zoubida and Puy, Hervé and Beaumont, Carole and Gouya, Laurent and Kannengiesser, Caroline
Gastroenterology, ISSN 0016-5085, 10/2016, Volume 151, Issue 4, pp. 771 - 772
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12. Full Text Lethal ALAS2 mutation in males X‐linked sideroblastic anaemia
by Rose, Christian and Callebaut, Isabelle and Pascal, Laurent and Oudin, Claire and Fournier, Martine and Gouya, Laurent and Lambilliotte, Anne and Kannengiesser, Caroline
British Journal of Haematology, ISSN 0007-1048, 08/2017, Volume 178, Issue 4, pp. 648 - 651
Red cells | Haem | ALAS | ALAS2 | HEMATOLOGY | ONSET | Amino Acid Sequence | Humans | Models, Molecular | Erythrocyte Indices | Male | 5-Aminolevulinate Synthetase - chemistry | Genetic Diseases, X-Linked - diagnosis | Anemia, Sideroblastic - genetics | Genes, Lethal | Phenotype | Anemia, Sideroblastic - diagnosis | DNA Mutational Analysis | Pedigree | 5-Aminolevulinate Synthetase - genetics | Bone Marrow - pathology | Germ-Line Mutation | Female | Genetic Diseases, X-Linked - genetics | Heterozygote | Protein Conformation | Mutation | Anemia | Genetic aspects | Males
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13. Full Text Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy ( TMEM173 Mutation)
by Picard, Cécile, MD and Thouvenin, Guillaume, MD and Kannengiesser, Caroline, MD, PhD and Dubus, Jean-Christophe, MD, PhD and Jeremiah, Nadia, PhD and Rieux-Laucat, Frédéric, PhD and Crestani, Bruno, MD, PhD and Belot, Alexandre, MD, PhD and Thivolet-Béjui, Françoise, MD, PhD and Secq, Véronique, MD, PhD and Ménard, Christelle and Reynaud-Gaubert, Martine, MD, PhD and Reix, Philippe, MD, PhD
Chest, ISSN 0012-3692, 2016, Volume 150, Issue 3, pp. e65 - e71
We report three cases of pulmonary disease suggesting fibrosis in two familial and one sporadic case. Pulmonary symptoms were associated with various clinical... 
Pulmonary/Respiratory | TMEM173 | vasculopathy | autoinflammatory disease | pulmonary fibrosis | LUNG TRANSPLANTATION | RESPIRATORY SYSTEM | ONSET | CRITICAL CARE MEDICINE | Severity of Illness Index | Inflammation - pathology | Autoimmune Diseases - diagnostic imaging | Membrane Proteins - genetics | Humans | Autoimmune Diseases - immunology | Pulmonary Fibrosis - immunology | Infant | Male | Tomography, X-Ray Computed | Inflammation - immunology | Pulmonary Fibrosis - genetics | Pulmonary Fibrosis - pathology | Autoimmune Diseases - genetics | Chilblains - immunology | Pulmonary Fibrosis - diagnostic imaging | Fatal Outcome | Inflammation - genetics | Adult | Female | Inflammation - diagnostic imaging | Mutation | Autoimmune Diseases - pathology | Child | Care and treatment | Pulmonary fibrosis | Research | Gene mutations | Index Medicus | Abridged Index Medicus | Life Sciences | Human health and pathology | Infectious diseases
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14. Full Text Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
by Juge, Pierre-Antoine and Borie, Raphaël and Kannengiesser, Caroline and Gazal, Steven and Revy, Patrick and Wemeau-Stervinou, Lidwine and Debray, Marie-Pierre and Ottaviani, Sébastien and Marchand-Adam, Sylvain and Nathan, Nadia and Thabut, Gabriel and Richez, Christophe and Nunes, Hilario and Callebaut, Isabelle and Justet, Aurélien and Leulliot, Nicolas and Bonnefond, Amélie and Salgado, David and Richette, Pascal and Desvignes, Jean-Pierre and Lioté, Huguette and Froguel, Philippe and Allanore, Yannick and Sand, Olivier and Dromer, Claire and Flipo, René-Marc and Clément, Annick and Béroud, Christophe and Sibilia, Jean and Coustet, Baptiste and Cottin, Vincent and Boissier, Marie-Christophe and Wallaert, Benoit and Schaeverbeke, Thierry and Le Moal, Florence Dastot and Frazier, Aline and Ménard, Christelle and Soubrier, Martin and Saidenberg, Nathalie and Valeyre, Dominique and Amselem, Serge and Boileau, Catherine and Crestani, Bruno and Dieudé, Philippe and FREX Consortium and FREX consortium and the FREX consortium
European Respiratory Journal, ISSN 0903-1936, 05/2017, Volume 49, Issue 5, pp. 1602314 - 1602314
Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given... 
MORTALITY | RTEL1 | VARIANTS | PATTERN | TELOMERASE | RESPIRATORY SYSTEM | COHORT | DEATH | MUTATIONS | PNEUMONIA | IDENTIFICATION | Humans | Middle Aged | Male | Pulmonary Fibrosis - genetics | Arthritis, Rheumatoid - complications | Case-Control Studies | Exome | Telomerase - genetics | Adult | Female | DNA Helicases - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Pulmonary Fibrosis - complications | Europe | Risk Factors | Lung Diseases, Interstitial - complications | Sequence Analysis, DNA | Arthritis, Rheumatoid - genetics | Phenotype | Lung Diseases, Interstitial - genetics | Heterozygote | Aged | Software | Mutation | Telomeres | Pulmonary fibrosis | Rheumatoid arthritis | Lung diseases | Fibrosis | Risk factors | Index Medicus | Life Sciences | Human health and pathology
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15. Full Text Reply
by Karim, Zoubida and Puy, Hervé and Beaumont, Carole and Gouya, Laurent and Kannengiesser, Caroline
Gastroenterology, ISSN 0016-5085, 2016, Volume 151, Issue 4, pp. 771 - 772
Gastroenterology and Hepatology
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16. Full Text Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations
by Nunes, Hilario and Jeny, Florence and Bouvry, Diane and Picard, Clément and Bernaudin, Jean-François and Ménard, Christelle and Brillet, Pierre-Yves and Kannengiesser, Caroline and Valeyre, Dominique and Kambouchner, Marianne
European Respiratory Journal, ISSN 0903-1936, 05/2017, Volume 49, Issue 5, pp. 1602022 - 1602022
We read with great interest the article by Newton et al. [1]. They found that mutations in the telomere maintenance machinery genes (telomerase reverse... 
SYSTEM | LUNG | PATHOLOGY | IDIOPATHIC PULMONARY-FIBROSIS | RESPIRATORY SYSTEM | Lung | Telomerase - genetics | Mutation | Ribonuclease A | DNA helicase | Poly(A) | RNA-directed DNA polymerase | Telomerase reverse transcriptase | Lung diseases | Point mutation | Poly(A)-specific ribonuclease | Ribonucleic acid--RNA | Chromosomes | Telomerase | Index Medicus
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17. Full Text Pneumocystosis revealing immunodeficiency secondary to TERC mutation
by Borie, R and Kannengiesser, C and de Fontbrune, FS and Boutboul, D and Tabeze, L and Brunet, F and Lainey, E and Debray, MP and Cazes, A and Crestani, B
EUROPEAN RESPIRATORY JOURNAL, ISSN 0903-1936, 11/2017, Volume 50, Issue 5, pp. 1701443 - 1701443
Telomerase-related gene (TRG) mutations are evidenced in about 25% of patients with familial pulmonary fibrosis, and less frequently in sporadic interstitial... 
RESPIRATORY SYSTEM | LUNG TRANSPLANTATION | PULMONARY-FIBROSIS | Diagnosis, Differential | Telomerase - genetics | Humans | Immunologic Deficiency Syndromes - physiopathology | Middle Aged | Immunologic Deficiency Syndromes - genetics | Pneumonia, Pneumocystis - diagnostic imaging | Female | Tomography, X-Ray Computed | Mutation | RNA - genetics | Thrombocytopenia | Pneumocystosis | Liver | Lung diseases | Immunodeficiency | Fibrosis | Telomerase | Index Medicus
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18. Full Text Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria
by Yien, Yvette Y and Ducamp, Sarah and Van Der Vorm, Lisa N and Kardon, Julia R and Manceau, Hana and Kannengiesser, Caroline and Bergonia, Hector A and Kafina, Martin D and Karim, Zoubida and Gouya, Laurent and Baker, Tania A and Puy, Hervé and Phillips, John D and Nicolas, Gaël and Paw, Barry H
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 09/2017, Volume 114, Issue 38, pp. E8045 - E8052
Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic... 
Porphyria | Protein unfoldases | ALAS | Heme biosynthesis | AAA+ ATPase | heme biosynthesis | PROTEIN | HEME-BIOSYNTHESIS | MULTIDISCIPLINARY SCIENCES | IRON | LINKED SIDEROBLASTIC ANEMIA | AAA plus ATPase | porphyria | DEGRADATION | protein unfoldases | ERYTHROID 5-AMINOLEVULINATE SYNTHASE | DOMINANT PROTOPORPHYRIA | ALAS2 GENE | COMMUNICATION | Genes | Biosynthesis | Metabolism | Erythroid cells | Accumulation | Erythropoietic protoporphyria | Studies | Mitochondria | Protoporphyrin | Heme | Mutation | Protoporphyrin IX | Chemical synthesis | Adenosine triphosphatase | Index Medicus | Life Sciences | Human health and pathology | Hematology | Biochemistry, Molecular Biology | Endocrinology and metabolism | Genetics | Cellular Biology | Biological Sciences | PNAS Plus
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19. Full Text Severe hematologic complications after lung transplantation in patients with telomerase complex mutations
by Borie, Raphael, MD and Kannengiesser, Caroline, PharmD, PhD and Hirschi, Sandrine, MD and Le Pavec, Jérôme, MD, PhD and Mal, Hervé, MD and Bergot, Emmanuel, MD, PhD and Jouneau, Stéphane, MD, PhD and Naccache, Jean-Marc, MD and Revy, Patrick, PhD and Boutboul, David, MD, PhD and Peffault de la Tour, Régis, MD, PhD and Wemeau-Stervinou, Lidwine, MD and Philit, Francois, MD and Cordier, Jean-François, MD and Thabut, Gabriel, MD, PhD and Crestani, Bruno, MD, PhD and Cottin, Vincent, MD, PhD and GERM O P and Groupe d’Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires (GERM“O”P)
Journal of Heart and Lung Transplantation, ISSN 1053-2498, 2015, Volume 34, Issue 4, pp. 538 - 546
Background Mutations in the telomerase complex ( TERT and TR ) are associated with pulmonary fibrosis and frequent hematologic manifestations. The aim of this... 
Surgery | familial | genetics | idiopathic pulmonary fibrosis | thrombocytopenia | myelodysplastic syndromes | myelodysplastic | syndromes | SURGERY | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | SOCIETY | TRANSPLANTATION | FORMS | RESPIRATORY SYSTEM | FAMILIES | DYSKERATOSIS-CONGENITA | IDIOPATHIC PULMONARY-FIBROSIS | Severity of Illness Index | Prognosis | Humans | Middle Aged | Male | Lung Transplantation - adverse effects | Telomerase - genetics | Hematologic Diseases - etiology | Adult | Female | Hematologic Diseases - epidemiology | Retrospective Studies | Mutation | Transplantation of organs, tissues, etc | Complications and side effects | Respiratory tract diseases | Care and treatment | Genetic aspects | Telomerase | Index Medicus | Life Sciences
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20. Full Text Pulmonary fibrosis: Genetic analysis of telomere-related genes, telomere length measurement-or both?
by Kannengiesser, Caroline and Borie, Raphael and Renzoni, Elisabetta A
Respirology (Carlton, Vic.), 12/2018
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