المؤلفون: Petar Šenjug, Tamara Nikuševa, null Martić, Marija Šenjug Perica, Maja Oroz, Matija Horaček, Kristina Gotovac, null Jerčić, Krešimir Galešić, Danica Galešić, null Ljubanović

المصدر: Croatian Medical Journal
Volume 62
Issue 3

مصطلحات موضوعية: Collagen Type IV, Pathology, medicine.medical_specialty, Nephritis, Hereditary* / diagnosis, Renal function, Nephritis, Hereditary, Collagen Type IV* / genetics, urologic and male genital diseases, Nephropathy, Hematuria / genetics, Focal segmental glomerulosclerosis, Biopsy, Humans, Medicine, Alport syndrome, Hematuria, Kidney, Proteinuria, medicine.diagnostic_test, urogenital system, business.industry, Nephritis, Hereditary* / genetics, General Medicine, COL4A4, medicine.disease, female genital diseases and pregnancy complications, Pedigree, medicine.anatomical_structure, Mutation, medicine.symptom, business, Nephritis, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::775e86cbb8ed3c179af55cfd2f64b3b1Test
https://doi.org/10.3325/cmj.2021.62.204Test

المؤلفون: Nicolas Waespe, Marc Ansari, Jean-Pierre Bourquin, Maja Beck-Popovic, Fabiën N. Belle, Jochen Rössler, Shelagh Redmond, Ben D. Spycher, Nicolas von der Weid, Jeanette Greiner, Katrin Scheinemann, Claudia E. Kuehni, Christina Schindera, Freimut H. Schilling, Pierluigi Brazzola

المساهمون: University of Zurich, Kuehni, Claudia E

المصدر: European journal of cancer, Vol. 145 (2021) pp. 71-80
Waespe, Nicolas; Belle, Fabiën N.; Redmond, Shelagh; Schindera, Christina; Spycher, Ben D.; Rössler, Jochen; Ansari, Marc; Kuehni, Claudia E. (2021). Cancer predisposition syndromes as a risk factor for early second primary neoplasms after childhood cancer-A national cohort study. European journal of cancer, 145, pp. 71-80. Elsevier 10.1016/j.ejca.2020.11.042 <http://dx.doi.org/10.1016/j.ejca.2020.11.042Test>

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Genetic testing, Swiss childhood cancer registry, Cancer survivors, Second primary neoplasms, Pediatrics, 0302 clinical medicine, Cancer Survivors, Neoplasms, Second Primary / diagnosis, Risk Factors, Adolescent medicine, Neoplasms, Medicine, Cumulative incidence, 1306 Cancer Research, Registries, 610 Medicine & health, Child, education.field_of_study, ddc:618, Neoplastic Syndromes, Hereditary / epidemiology, Incidence (epidemiology), Incidence, Hazard ratio, Hematopoietic Stem Cell Transplantation, Age Factors, Neoplasms, Second Primary, Neoplasms, Second Primary / epidemiology, Oncology, 030220 oncology & carcinogenesis, Early detection of cancer, Child, Preschool, Neoplastic Syndromes, Hereditary / diagnosis, Female, 2730 Oncology, Switzerland, 360 Social problems & social services, Cohort study, medicine.medical_specialty, Adolescent, Population, Antineoplastic Agents, Risk Assessment, Switzerland / epidemiology, 03 medical and health sciences, Young Adult, Neoplastic Syndromes, Hereditary, Internal medicine, Humans, Risk factor, education, Radiotherapy / adverse effects, Genetic counselling, Radiotherapy, business.industry, Hereditary neoplastic syndromes, Antineoplastic Agents / adverse effects, Hematopoietic Stem Cell Transplantation / adverse effects, Infant, Newborn, Cancer, Infant, medicine.disease, Transplantation, 030104 developmental biology, 10036 Medical Clinic, business

وصف الملف: PIIS0959804920313794.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cacba93b3aead1ce124526b0cc6cbddaTest
https://doi.org/10.5167/uzh-213020Test

المؤلفون: D. Gareth Evans, Christian P. Kratz, Tim Ripperger, David Malkin

المصدر: Familial cancer, 20(4):289291
Familial Cancer
Ripperger, T, Evans, D G, Malkin, D & Kratz, C P 2021, ' Choose and stay on one out of two paths : distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer ', Familial Cancer, vol. 20, no. 4, pp. 289-291 . https://doi.org/10.1007/s10689-021-00228-2Test
Fam Cancer

مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, MEDLINE, Neoplastic Syndromes, Hereditary/diagnosis, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, Neoplasms, Epidemiology, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Letter to the Editor, Genetics (clinical), 030304 developmental biology, Genetic testing, 0303 health sciences, medicine.diagnostic_test, business.industry, Cancer predisposition, Correction, Cancer, medicine.disease, Human genetics, Oncology, 030220 oncology & carcinogenesis, Biomedicine, general, Human Genetics, business, Neoplasms/diagnosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa2e87a99c2e30b22832da56874c5c38Test
https://repository.publisso.de/resource/frl:6446069Test

المؤلفون: Fátima Carneiro, Francesco Limarzi, Irene Gullo, Alessandro Vanoli, Luca Mastracci, Matteo Fassan, Luca Saragoni, Federica Grillo, Jacopo Ferro, Paola Parente

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Pathologica

مصطلحات موضوعية: Oncology, medicine.medical_specialty, gastric adenocarcinoma, gastric cancer, gastric dysplasia, hereditary diffuse gastric cancer (HDGC), hereditary gastric cancer syndromes, Gastric dysplasia, Review, Stomach Neoplasms / diagnosis, Hereditary gastric cancer syndromes, Adenocarcinoma, Malignancy, Neoplastic Syndromes, Hereditary / genetics, Pathology and Forensic Medicine, Neoplastic Syndromes, Hereditary, Stomach Neoplasms, Internal medicine, Hereditary diffuse gastric cancer (HDGC), medicine, Genetic predisposition, Neoplastic Syndromes, Hereditary / pathology, Stomach Neoplasms / epidemiology, Humans, Genetic Predisposition to Disease, Stomach Neoplasms / genetics, Stage (cooking), Gastric adenocarcinoma, business.industry, Neoplastic Syndromes, Hereditary / epidemiology, Stomach, Incidence, Cancer susceptibility, Cancer, Pathology Report, medicine.disease, Prognosis, Gastric Dysplasia, medicine.anatomical_structure, Neoplastic Syndromes, Hereditary / diagnosis, Stomach / pathology, business, Gastric cancer, Stomach Neoplasms / pathology, Precancerous Conditions

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bcc1a544474a402b14b576c33479024Test
https://hdl.handle.net/10216/145232Test

المؤلفون: M. Elizabeth Brickner, Reed E. Pyeritz, Kathryn C. Chatfield, Dianna M. Milewicz, Anthony L. Estrera, Ellen S. Regalado, Hiroko Morisaki, Patricia L. Musolino, Lauren Mellor-Crummey, Susan L. Benedict, Mustafa Tekin, Denver Sallee, Kathryn W. Holmes, Timothy J. Bradley, Cori Feist, Glen J. Iannucci, Julie Richer, Sherene Shalhub, John R. Østergaard, Lesley C. Adès, Anne H. Child, Paul R. Mark, Shaine A. Morris, Anna L. Mitchell, Birgit Lorenz, Julie De Backer, Takayuki Morisaki, Anji T. Yetman, Alan C. Braverman

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Regalado, E S, Mellor-Crummey, L, De Backer, J, Braverman, A C, Ades, L, Benedict, S, Bradley, T J, Brickner, M E, Chatfield, K C, Child, A, Feist, C, Holmes, K W, Iannucci, G, Lorenz, B, Mark, P, Morisaki, T, Morisaki, H, Morris, S A, Mitchell, A L, Ostergaard, J R, Richer, J, Sallee, D, Shalhub, S, Tekin, M, Estrera, A, Musolino, P, Yetman, A, Pyeritz, R, Milewicz, D M & Montalcino Aortic Consortium 2018, ' Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations ', Genetics in Medicine, vol. 20, no. 10, pp. 1206-1215 . https://doi.org/10.1038/gim.2017.245Test

مصطلحات موضوعية: Eye Diseases, Hereditary/diagnosis, thoracic aortic aneurysm, 030204 cardiovascular system & hematology, Aortopulmonary window, Medical Records, 0302 clinical medicine, Axillary artery, Ductus arteriosus, Child, Stroke, Ductus Arteriosus, Patent, Genetics (clinical), Muscle, Smooth/diagnostic imaging, congenital mydriasis, Mydriasis, Eye Diseases, Hereditary, Ductus Arteriosus, Patent/diagnosis, 3. Good health, Dissection, medicine.anatomical_structure, Child, Preschool, Cardiology, cardiovascular system, ACTA2, Adult, medicine.medical_specialty, Adolescent, smooth muscle dysfunction syndrome, Arginine, Thoracic aortic aneurysm, Article, Mydriasis/diagnosis, 03 medical and health sciences, patent ductus arteriosus, Young Adult, Aneurysm, Internal medicine, medicine.artery, medicine, Humans, Genetic Predisposition to Disease, cardiovascular diseases, Genetic Testing, Arginine/genetics, Aortic Aneurysm, Thoracic, business.industry, Actins/genetics, Infant, Muscle, Smooth, medicine.disease, Actins, Stenosis, business, 030217 neurology & neurosurgery, Aortic Aneurysm, Thoracic/diagnosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8781f25dd24c3cd5595fe15cb4a2f568Test
http://europepmc.org/articles/PMC6034999Test

المؤلفون: Anette Bygum, Juliane Schierbeck, Tine Vestergaard

المصدر: Schierbeck, J, Vestergaard, T & Bygum, A 2019, ' Skin cancer associated genodermatoses : A literature review ', Acta Dermato-Venereologica, vol. 99, no. 4, pp. 360-369 . https://doi.org/10.2340/00015555-3123Test
Acta Dermato-Venereologica, Vol 99, Iss 4, Pp 360-369 (2019)

مصطلحات موضوعية: squamous cell carcinoma, Male, Carcinoma, Squamous Cell/diagnosis, Skin Neoplasms, Carcinoma, Basal Cell/diagnosis, hereditary skin cancer, 030207 dermatology & venereal diseases, 0302 clinical medicine, Risk Factors, Squamous cell carcinoma, Skin cancer, Bloom syndrome, Child, Melanoma, Skin Neoplasms/diagnosis, Skin, skin cancer, Melanoma/diagnosis, General Medicine, Environmental exposure, Middle Aged, genodermatoses, Treatment Outcome, Phenotype, RL1-803, 030220 oncology & carcinogenesis, Child, Preschool, Carcinoma, Squamous Cell, Rombo syndrome, Female, Biomarkers, Tumor/genetics, Adult, medicine.medical_specialty, Skin/pathology, Xeroderma pigmentosum, Adolescent, Dermatology, Neoplastic Syndromes, Hereditary/diagnosis, Risk Assessment, 03 medical and health sciences, Young Adult, basal cell carcinoma, Neoplastic Syndromes, Hereditary, Genodermatoses, Biomarkers, Tumor, medicine, Hereditary skin cancer, Humans, Basal cell carcinoma, Genetic Predisposition to Disease, business.industry, Cancer, Epidermodysplasia verruciformis, medicine.disease, Carcinoma, Basal Cell, Mutation, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db0a2e37723a1647442e49d668c46d6Test
https://findresearcher.sdu.dk:8443/ws/files/149348345/Skin_cancer_associated_genodermatoses.pdfTest

المؤلفون: Jens-Erik Beck Jensen, M. Schmidt, C.Z. Swan, Jens Højberg Wanscher, Hans Gjørup, Jesper Hjortdal, Kim Brixen, Dorte Haubek, Bente L. Langdahl, Jannie Dahl Hald, D.A. Larsen, Torben Harsløf, C.-H. Leonhard, Allan M. Lund, Lars Folkestad, Morten Duno

المصدر: Hald, J D, Folkestad, L, Swan, C Z, Wanscher, J, Schmidt, M, Gjørup, H, Haubek, D, Leonhard, C-H, Larsen, D A, Hjortdal, J Ø, Harsløf, T, Duno, M, Lund, A M, Jensen, J-E B, Brixen, K & Langdahl, B 2018, ' Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults ', Osteoporosis International, vol. 29, no. 12, pp. 2781–2789 . https://doi.org/10.1007/s00198-018-4663-xTest
Hald, J D, Folkestad, L, Swan, C Z, Wanscher, J, Schmidt, M, Gjørup, H, Haubek, D, Leonhard, C H, Larsen, D A, Hjortdal, J, Harsløf, T, Duno, M, Lund, A M, Jensen, J E B, Brixen, K & Langdahl, B 2018, ' Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults ', Osteoporosis International, vol. 29, no. 12, pp. 2781–2789 . https://doi.org/10.1007/s00198-018-4663-xTest

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Eye Diseases, Hereditary/diagnosis, Dentinogenesis imperfecta, Hearing loss, Endocrinology, Diabetes and Metabolism, Denmark, Hearing Loss/diagnosis, Dentinogenesis Imperfecta/diagnosis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Dentinogenesis Imperfecta, Internal medicine, medicine, Humans, Osteogenesis Imperfecta/complications, Hearing Loss, Aged, Non-skeletal phenotype, business.industry, Eye Diseases, Hereditary, 030206 dentistry, Middle Aged, Osteogenesis Imperfecta, medicine.disease, Rheumatology, Denmark/epidemiology, Corneal thickness, Phenotype, Osteogenesis imperfecta, Cohort, Orthopedic surgery, 030221 ophthalmology & optometry, Population study, Sensorineural hearing loss, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44b45bf0133a3dfe0485326a9f7aa84eTest
https://pubmed.ncbi.nlm.nih.gov/30143849Test

المؤلفون: Anette Bygum

المصدر: Bygum, A 2014, ' Hereditary Angioedema-Consequences of a New Treatment Paradigm in Denmark ', Acta Dermatovenereologica, vol. 94, no. 4, pp. 436-441 . https://doi.org/10.2340/00015555-1743Test

مصطلحات موضوعية: Male, Pediatrics, Time Factors, Denmark, Tranexamic Acid/administration & dosage, C1-inhibitor, chemistry.chemical_compound, Cost of Illness, Quality of life, Icatibant, Activities of Daily Living, Hospitalisation, Angioedemas, Hereditary/diagnosis, Prospective Studies, Registries, Burden of illness, Prospective cohort study, Hereditary angioedema, biology, Bradykinin/administration & dosage, General Medicine, Middle Aged, Home Care Services, Hospitalization, Treatment Outcome, Tranexamic Acid, Cohort, Disease Progression, Female, Home therapy, Complement C1 Inhibitor Protein, Tranexamic acid, medicine.drug, Adult, medicine.medical_specialty, Dermatologic Agents/administration & dosage, Complement C1 Inhibitor Protein/administration & dosage, Dermatology, Motor Activity, Administration, Cutaneous, Bradykinin, Drug Administration Schedule, medicine, Humans, Aged, Danazol, business.industry, Angioedemas, Hereditary, Danazol/administration & dosage, medicine.disease, chemistry, Quality of Life, biology.protein, Dermatologic Agents, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa0892b0debf9d1921e2411f30c276ecTest
https://doi.org/10.2340/00015555-1743Test

المؤلفون: Funda Ozgurler, Metin Tan, Yasemin Isik Balci, Aziz Polat, Ali Koçyiğit

مصطلحات موضوعية: wandering spleen, Abdominal pain, Pathology, paracetamol, Hereditary spherocytosis, abdominal mass, bilirubin glucuronide, computer assisted tomography, low drug dose, mean corpuscular hemoglobin, Ankyrin, Abdominal Pain/etiology, Adolescent, Ankyrins/blood/*deficiency, Female, Humans, Incidental Findings, Osmotic Fragility, Radiography, Spherocytosis, Hereditary/blood/complications/*diagnosis, Splenomegaly/etiology, Ultrasonography, Wandering Spleen/*diagnosis/diagnostic imaging/etiology, chemistry.chemical_classification, family history, mean corpuscular volume, Relaxation (psychology), colic, article, Erythrocyte fragility, Hematology, female, medicine.anatomical_structure, Oncology, medicine.symptom, leukocyte, Ankyrins, medicine.medical_specialty, hyperbilirubinemia, hematocrit, Spleen, Spherocytosis, Hereditary, childhood, hereditary spherocytosis, medicine, case report, follow up, human, business.industry, ferritin, abdominal pain, treatment response, Wandering Spleen, lactate dehydrogenase, vital sign, hemoglobin, osmotic fragility, medicine.disease, Childhood, Abdominal Pain, thrombocyte, chemistry, Splenomegaly, Pediatrics, Perinatology and Child Health, erythrocyte, Wandering spleen, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a817e88e9c2ae954900442d4f63329a0Test

المؤلفون: Véronique Paquis-Flucklinger, Corinne Baudoin, Maxime Hebrard, José-Alain Sahel, Christina Zeitz, Bernd Wissinger, Jean-Michel Rozet, Anne-Françoise Roux, Isabelle Audo, Isabelle Perrault, Pascal Reynier, Hélène Dollfus, Claire-Marie Dhaenens, Mireille Claustres, Cécile Delettre, Christian P. Hamel, Dominique Bonneau, Catherine Blanchet, Benoit Arveiler, Béatrice Bocquet, Patrizia Amati-Bonneau, Audrey Sénéchal, Jean-Paul Bonnefont, Marie-Odile Surget, Isabelle Meunier, Suzanne Kohl, Gaël Manes, Virginie Marquette, Josseline Kaplan, Annie Lacroux, Patrick Calvas

المساهمون: Neuroimmunologie des annélides (NA), Université de Lille, Sciences et Technologies-Centre National de la Recherche Scientifique (CNRS), Épidémiologie et prévention : environnement et efficacité des interventions (EPIPREV), Centre de référence des affections sensorielles d'origine génétique, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui De Chaulliac, Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Méthodes et Algorithmes pour la Bioinformatique (MAB), Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier (LIRMM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et thérapie des déficits sensoriels et moteurs, Université Montpellier 2 - Sciences et Techniques (UM2)-IFR76-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc - U837 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université Lille 2 - Faculté de Médecine, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA), CHU Toulouse [Toulouse], Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Molecular Genetics Laboratory [Tuebingen, Germany] (Centre for Ophthalmology), Institute for Ophthalmic Research [Tuebingen, Germany]-University Clinics Tuebingen [Germany], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Institut des Neurosciences de Montpellier (INM), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Université Nice Sophia Antipolis (... - 2019) (UNS), University Clinics Tuebingen [Germany]-Institute for Ophthalmic Research [Tuebingen, Germany], Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Ophthalmic Epidemiology
Ophthalmic Epidemiology, Taylor & Francis, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩
Ophthalmic Epidemiology, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩

مصطلحات موضوعية: Male, Pathology, genetic structures, Epidemiology, Usher syndrome, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Peripherins, MESH: Intermediate Filament Proteins/genetics, MESH: Eye Proteins/genetics, MESH: Molecular Diagnostic Techniques, MESH: Membrane Glycoproteins/genetics, MESH: Optic Nerve Diseases/diagnosis, Polymerase Chain Reaction, Optic neuropathy, 0302 clinical medicine, MESH: Aged, 80 and over, Intermediate Filament Proteins, MESH: Child, Optic Nerve Diseases, Outpatient clinic, MESH: DNA Mutational Analysis, Child, Aged, 80 and over, MESH: Aged, 0303 health sciences, Extracellular Matrix Proteins, MESH: Retinal Dystrophies/genetics, Membrane Glycoproteins, macular dystrophy, MESH: Middle Aged, MESH: France/epidemiology, Inherited retinal dystrophies, Eye Diseases, Hereditary, Macular dystrophy, Middle Aged, inherited optic neuropathies, MESH: Infant, 3. Good health, MESH: Optic Nerve Diseases/genetics, Molecular Diagnostic Techniques, MESH: Young Adult, Child, Preschool, Myosin VIIa, MESH: ATP-Binding Cassette Transporters/genetics, Female, France, MESH: Peripherins, MESH: Retinal Dystrophies/epidemiology, Retinal Dystrophies, Retinopathy, Adult, medicine.medical_specialty, MESH: Mutation, Adolescent, Nerve Tissue Proteins, Myosins, 03 medical and health sciences, Young Adult, Retinitis pigmentosa, molecular diagnosis, medicine, Humans, MESH: Myosin VIIa, pigmentary retinopathy, Eye Proteins, 030304 developmental biology, Aged, MESH: Adolescent, MESH: Extracellular Matrix Proteins/genetics, MESH: Humans, business.industry, MESH: Child, Preschool, Infant, MESH: Adult, MESH: Eye Diseases, Hereditary/epidemiology, MESH: Polymerase Chain Reaction, medicine.disease, Dermatology, MESH: Myosins/genetics, MESH: Nerve Tissue Proteins/genetics, eye diseases, MESH: Male, Stargardt disease, Ophthalmology, Mutation, 030221 ophthalmology & optometry, MESH: Eye Diseases, Hereditary/genetics, ATP-Binding Cassette Transporters, sense organs, MESH: Optic Nerve Diseases/epidemiology, business, MESH: Retinal Dystrophies/diagnosis, MESH: Female, MESH: Eye Diseases, Hereditary/diagnosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fe16ac2c24e1b783beecd383c53094Test
https://hal.umontpellier.fr/hal-02446185Test