المؤلفون: Adviento, Brigid, Corbin, Iris L, Widjaja, Felicia, Desachy, Guillaume, Enrique, Nicole, Rosser, Tena, Risi, Susan, Marco, Elysa J, Hendren, Robert L, Bearden, Carrie E, Rauen, Katherine A, Weiss, Lauren A

المصدر: Journal of Medical Genetics. 51(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Clinical Research, Neurosciences, Autism, Mental Health, Rare Diseases, Behavioral and Social Science, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Adult, Autistic Disorder, Child, Costello Syndrome, Diagnosis, Differential, Ectodermal Dysplasia, Facies, Failure to Thrive, Female, Heart Defects, Congenital, Humans, Male, Middle Aged, Mitogen-Activated Protein Kinases, Mutation, Neuropsychological Tests, Noonan Syndrome, Patient Outcome Assessment, Phenotype, Prevalence, Quantitative Trait, Heritable, Sex Factors, Siblings, Signal Transduction, Surveys and Questionnaires, Young Adult, ras Proteins, Neurofibromatosis Type 1, Cranio-Facio-Cutaneous Syndrome, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3cn914rqTest

المؤلفون: Sirkku Peltonen, Roope A. Kallionpää, Juha Peltonen, Hannu Järveläinen, Jussi Leppävirta, Kari Auranen, Minna Pöyhönen

المساهمون: HUSLAB, Department of Medical and Clinical Genetics, Helsinki University Hospital Area, HUS Diagnostic Center, University of Helsinki, Minna Pöyhönen / Principal Investigator

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, genetic association studies, Type 2 diabetes, Haploinsufficiency, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Diabetes mellitus, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, autoimmune diseases, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Proportional Hazards Models, genetic predisposition to disease, Proportional hazards model, business.industry, Genotype-Phenotype Correlations, 1184 Genetics, developmental biology, physiology, Middle Aged, medicine.disease, Obesity, eye diseases, 3. Good health, nervous system diseases, 030104 developmental biology, Diabetes Mellitus, Type 2, 030220 oncology & carcinogenesis, Relative risk, Cohort, diabetes mellitus, Female, 3111 Biomedicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5edef69a046d2c1f2d3fe99aed52bf3bTest
http://europepmc.org/articles/PMC8142421Test

المؤلفون: G Leverger, Thierry Frebourg, Rosine Guimbaud, Laurence Brugières, Alex Duval, Florence Coulet, Noémie Lavoine, Gaëlle Bougeard, Dominique Leroux, J.-P. Fricker, Olivier Caron, Michèle Mathieu-Dramard, Sophie Lejeune, Franck Bourdeaut, Qing Wang, G Sebille, S Baert-Dusermont, O Cohen-Hagenauer, Felipe Andreiuolo, G Jedraszak, Natacha Entz-Werle, Jacques Grill, G. Couillault, Marie-Pierre Buisine, Chrystelle Colas, Odile Cabaret, Julie Tinat, C. Charpy, Martine Muleris, Sahra Bodo, Léa Guerrini-Rousseau

المساهمون: Unité fonctionnelle d'Oncogénétique et Angiogénétique Moléculaire [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), inconnu, Inconnu, Hôpital de Hautepierre [Strasbourg], Institut d'oncologie/développement Albert Bonniot de Grenoble (INSERM U823), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Toulouse [Toulouse], Vectorologie et transfert de gènes (VTG / UMR8121), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2015, 52 (11), pp.770-778. ⟨10.1136/jmedgenet-2015-103299⟩

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Biology, Young Adult, Germline mutation, Neoplastic Syndromes, Hereditary, Genetics, medicine, PMS2, Humans, Child, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Adaptor Proteins, Signal Transducing, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, Brain Neoplasms, Mortality rate, Neurooncology, Infant, Nuclear Proteins, medicine.disease, Lynch syndrome, 3. Good health, DNA-Binding Proteins, MSH6, DNA Repair Enzymes, MutS Homolog 2 Protein, Treatment Outcome, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MSH2, Child, Preschool, Mutation, Immunology, Female, Age of onset, Colorectal Neoplasms, MutL Protein Homolog 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::487b94d40b3ac641f81cb81aa25ce955Test
https://doi.org/10.1136/jmedgenet-2015-103299Test

المؤلفون: François Goldwasser, Michel Vidaud, Karen Leroy, Frédérique Larousserie, Hélène Blons, Anne-Paule Gimenez-Roqueplo, Eric Pasmant, Jacques Cadranel, Pierre Laurent-Puig, Audrey Mansuet-Lupo, Pascaline Boudou-Rouquette, Camille Tlemsani

المصدر: Journal of medical genetics. 57(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Lung Neoplasms, Loss of Heterozygosity, 030105 genetics & heredity, MLH1, Germline, B7-H1 Antigen, 03 medical and health sciences, Young Adult, Molecular genetics, Rhabdomyosarcoma, Exome Sequencing, Genetics, medicine, PMS2, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Neoplasm Metastasis, Child, Genetics (clinical), Exome sequencing, Germ-Line Mutation, Mismatch Repair Endonuclease PMS2, business.industry, Middle Aged, medicine.disease, Lynch syndrome, Antibodies, Anti-Idiotypic, Gene Expression Regulation, Neoplastic, 030104 developmental biology, Drug Resistance, Neoplasm, Cancer research, DNA mismatch repair, Female, business, MutL Protein Homolog 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df0ddd1ccd51c674ab09cd9b5a30861Test
https://pubmed.ncbi.nlm.nih.gov/30352869Test

المؤلفون: T. De Ravel, Marjolijn C.J. Jongmans, Livia Kapusta, Joris A. Veltman, Lisenka E.L.M. Vissers, B. B. A. De Vries, Han G. Brunner, C M A van Ravenswaaij, Dian Donnai, L. H. Hoefsloot, Annette F. Baas, A. Geurts van Kessel, K. van der Donk, Ronald J.C. Admiraal, J M van Hagen

المساهمون: Clinical sciences, Medical Genetics, Faculty of Law and Criminology

المصدر: Journal of Medical Genetics, 43, 306-14
Journal of Medical Genetics, 43, 4, pp. 306-14

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Germline mosaicism, Choanal atresia, medicine.disease_cause, CHARGE syndrome, Central Nervous System Diseases, Perception and Action [DCN 1], Heart, lung and circulation [UMCN 2.1], Child, Genetics (clinical), Genetics, Coloboma, Mutation, Cardiovascular diseases [NCEBP 14], medicine.diagnostic_test, Functional imaging [IGMD 1], Central Nervous System Diseases/diagnosis, syndrome, Major gene, Hypoplasia, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Spinal Diseases, Original Article, Female, Spinal Diseases/diagnosis, Functional Neurogenomics [DCN 2], Heart Defects, Congenital, Adult, Abnormalities, Multiple/diagnosis, Adolescent, Child, preschool, Choanal Atresia/diagnosis, Coloboma/diagnosis, Vestibular Diseases/diagnosis, Gestational Age, Biology, Choanal Atresia, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], otorhinolaryngologic diseases, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Mouth Diseases/diagnosis, Genetic testing, Hereditary cancer and cancer-related syndromes [ONCOL 1], DNA Helicases/genetics, DNA Helicases, Infant, Newborn, Infant, medicine.disease, Genetic defects of metabolism [UMCN 5.1], Heart Defects, Congenital/diagnosis, mutation, Mouth Diseases, DNA-Binding Proteins/genetics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1fa8fcdb77f66933f35bb3288d610fTest
https://doi.org/10.1136/jmg.2005.036061Test

المؤلفون: Andrew J. Mannes, Victor-Felix Mautner, Lawrence Yao, Eric Legius, Chyi-Chia Richard Lee, Douglas R. Stewart, Raphael Sciot, Armin Moshyedi, Jennifer L. Sloan, Luc De Smet

المصدر: Journal of Medical Genetics. 47:525-532

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurofibromatosis 1, Neuromuscular disease, Article, Fingers, Glomus body, Belgium, Internal medicine, Genetics, medicine, Humans, Neurofibromatosis, Child, Genetics (clinical), Demography, medicine.diagnostic_test, business.industry, Vascular disease, fungi, Magnetic resonance imaging, Middle Aged, Toes, Glomus Tumor, medicine.disease, Magnetic Resonance Imaging, Dermatology, Glomus tumor, Radiography, body regions, Complex regional pain syndrome, Endocrinology, Nails, Female, Complication, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b33b6bd16b73862d7218242b113c2e9Test
https://doi.org/10.1136/jmg.2009.073965Test

المؤلفون: Tracy Tucker, Jan M. Friedman, Ralph Wenzel, Reinhard E Friedrich, Victor-F. Mautner, Carsten Fünsterer

المصدر: Journal of Medical Genetics. 46:81-85

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurofibromatosis 1, Neuromuscular disease, Adolescent, Central nervous system disease, Plexiform neurofibroma, Internal medicine, Biopsy, Genetics, medicine, Humans, Neurofibroma, Longitudinal Studies, Neurofibromatosis, Child, Radionuclide Imaging, Genetics (clinical), Neurofibroma, Plexiform, medicine.diagnostic_test, business.industry, Neurooncology, Infant, Magnetic resonance imaging, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Endocrinology, Child, Preschool, Female, Radiology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9442c6045e8b145eb0bfecc7615b581cTest
https://doi.org/10.1136/jmg.2008.061051Test

المؤلفون: Bernd H. Belohradsky, M. van Deuren, Ismail Reisli, M M Hagleitner, S.M. van der Maarel, Andrew R. Gennery, E. J. A. Gerritsen, P J Howard, Corry M.R. Weemaes, R de Groot, Jean-Pierre Fryns, Catharina Schuetz, Dieter Furthner, Maj Hultén, Anders Fasth, EG Davies, J.C. de Greef, P J van Dijken, Andrew J. Cant, Giorgio Gimelli, G Cazzola, Teresa Mattina, A.C. Lankester, Paola Maraschio, Mary Slatter

المصدر: Journal of Medical Genetics, 45, 2, pp. 93-9
Journal of Medical Genetics, 45, 93-9

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, DNMT3B, Centromere, Disease, Biology, Auto-immunity, transplantation and immunotherapy [N4i 4], Craniofacial Abnormalities, Chromosomal Instability, Genetics, medicine, Humans, DNA (Cytosine-5-)-Methyltransferases, Hypertelorism, Child, Genetics (clinical), Immunodeficiency, Low-set ears, Genetic heterogeneity, Poverty-related infectious diseases [N4i 3], Immunologic Deficiency Syndromes, Infant, Immunotherapy, gene therapy and transplantation [UMCN 1.4], Syndrome, medicine.disease, humanities, Transplantation, Pathogenesis and modulation of inflammation [N4i 1], Phenotype, Child, Preschool, Failure to thrive, Immunology, Mutation, Female, Microbial pathogenesis and host defense [UMCN 4.1], medicine.symptom

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0a1aa41e1df140db65329180e2f93eTest
https://hdl.handle.net/2066/69091Test

المؤلفون: M. Osborn, Bruce A.J. Ponder, Meena Upadhyaya, Susan M Huson, Peter S. Harper, M. A. Ponder, Julie Helen Maynard

المصدر: Journal of Medical Genetics. 32:706-710

مصطلحات موضوعية: Adult, Male, Untranslated region, Mutation rate, Neurofibromatosis 1, Adolescent, DNA Mutational Analysis, Molecular Sequence Data, Biology, medicine.disease_cause, Exon, Germline mutation, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Amino Acid Sequence, Neurofibromatosis, Child, Germ-Line Mutation, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Aged, Sequence Deletion, Aged, 80 and over, Mutation, Base Sequence, Nucleic Acid Heteroduplexes, Single-strand conformation polymorphism, Exons, Middle Aged, medicine.disease, Molecular biology, Child, Preschool, Female, Research Article, Microsatellite Repeats, Heteroduplex

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::468ec8bd7a4a8b2ce70c9b663fa04725Test
https://doi.org/10.1136/jmg.32.9.706Test

المؤلفون: S, Naz, A J, Griffith, S, Riazuddin, L L, Hampton, J F, Battey, S N, Khan, E R, Wilcox, T B, Friedman

المصدر: Journal of Medical Genetics. 41:591-595

مصطلحات موضوعية: Adult, Male, Adolescent, Hearing loss, Molecular Sequence Data, Short Report, Genes, Recessive, Locus (genetics), Deafness, Biology, Frameshift mutation, Mice, otorhinolaryngologic diseases, Genetics, medicine, Animals, Humans, Vestibular dysfunction, Amino Acid Sequence, Child, Frameshift Mutation, Genetics (clinical), Vestibular system, Vestibular areflexia, Microfilament Proteins, Phenotype, Pedigree, Rats, Vestibular Diseases, Chromosomes, Human, Pair 1, Female, sense organs, Differential diagnosis, medicine.symptom, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca5511ab3f48429630e97bf7829cfc7aTest
https://doi.org/10.1136/jmg.2004.018523Test