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1
المؤلفون: Henriett Butz, Gy Fekete, Attila Tar, Ágota Muzsnai, Attila Patócs, Zsuzsanna Szanto, Gábor Nyírő, Andrea Luczay, Rita Bertalan, Ágnes Sallai, Éva Hosszú, Violetta Csákváry, Enikő Felszeghy, Zita Halász, Imre Zoltan Kun, Dóra Török, Anna David
المصدر: Orvosi Hetilap. 158:1351-1356
مصطلحات موضوعية: 0301 basic medicine, Gynecology, medicine.medical_specialty, business.industry, 030209 endocrinology & metabolism, General Medicine, medicine.disease, 03 medical and health sciences, Shox gene, 030104 developmental biology, 0302 clinical medicine, Medicine, business, Léri–Weill dyschondrosteosis
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2
المؤلفون: Caroline Eozenou, David Rodriguez-Buritica, Zita Halász, Jean-Pierre Siffroi, Joelle Bignon-Topalovic, Anne Jorgensen, Sophie Lambert, Rajpert-De Meyts E, János Sólyom, Anu Bashamboo, Ken McElreavey, Paye-Jaouen A, Rita Bertalan, Attila Tar, Capucine Hyon, John C. Achermann, Peter Nagy, Laetitia Martinerie
المساهمون: Génétique du développement humain, Institut Pasteur [Paris], Department of Growth and Reproduction [Rigshospitalet], Rigshospitalet [Copenhagen], Copenhagen University Hospital-Copenhagen University Hospital, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Pál Heim Children's Hospital = Heim Pál Gyermekkórház [Budapest], First Department of Pathology and Experimental Cancer Research, Semmelweis University [Budapest], Chirurgie viscérale et urologie pédiatriques [AP-HP Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Endocrinologie et Diabétologie Pédiatriques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, McGovern Medical School [Houston, Texas], The University of Texas Health Science Center at Houston (UTHealth), Copenhagen University Hospital, Institute of Child Health [London], University College of London [London] (UCL), A.B. is funded in part by the program Actions Concertees Interpasteuriennes (ACIP) and a research grant from the European Society of Pediatric Endocrinology. A.B. and K.McE. are funded by a research grant from the EuroDSD in the European Community’s Seventh Framework Programme FP7/2007-2013 under grant agreement no. 201444 as well as grant no. 295097 as part of the EU call FP7-INCO-2011-6. J.C.A. is a Wellcome Trust Senior Research Fellow in Clinical Science (grant 098513/Z/12/Z, 209328/Z/17/Z) with research support from Great Ormond Street Hospital Children's Charity (grant V2518) and the NIHR GOSH BRC (IS-BRC-1215-20012)., This work is supported by the COST Action DSDnet BM1303., This work was funded by the Agence Nationale de la Recherche (Laboratoire d’Excellence Revive, Investissement d’Avenir, ANR-10-LABX-73)., The authors wish to thank Dr. Etienne Patin for comments on the manuscript., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), European Project: 201444,EC:FP7:HEALTH,FP7-HEALTH-2007-A,EURODSD(2008), European Project: 295097,EC:FP7:INCO,FP7-INCO-2011-6,GM_NCD_IN_CO(2011), Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP)
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩
American Journal of Human Genetics, 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩مصطلحات موضوعية: Forkhead Box Protein L2, Male, 0301 basic medicine, new syndrome, 46, XX Disorders of Sex Development, [SDV]Life Sciences [q-bio], MESH: 46, XX Disorders of Sex Development / genetics, sex determination, MESH: Amino Acid Sequence, MESH: Loss of Function Mutation / genetics, MESH: Base Sequence, Bioinformatics, medicine.disease_cause, COUP Transcription Factor II, 0302 clinical medicine, Loss of Function Mutation, MESH: Ovary / growth & development, MESH: Child, Testis, MESH: Testis / growth & development, nuclear receptor, Child, Frameshift Mutation, Exome, Genetics (clinical), MESH: Heterozygote, 0303 health sciences, education.field_of_study, Mutation, MESH: Testis / abnormalities, MESH: COUP Transcription Factor II / genetics, Cell biology, Phenotype, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, medicine.symptom, Heterozygote, medicine.drug_class, Population, Ovary, Biology, MESH: COUP Transcription Factor II / chemistry, MESH: Phenotype, Frameshift mutation, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, 03 medical and health sciences, MESH: Forkhead Box Protein L2 / metabolism, Report, Genetics, medicine, Humans, Amino Acid Sequence, education, testicular DSD, Loss function, 030304 developmental biology, MESH: Humans, Base Sequence, Virilization, MESH: Frameshift Mutation / genetics, Androgen, MESH: Ovary / metabolism, NR2F2, MESH: Male, 030104 developmental biology, Nuclear receptor, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, COUP-TF2, Cardiac defects, MESH: Female
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3
المؤلفون: Attila Tar, Hajna Losonczy, Ágnes Nagy
المصدر: Orvosi Hetilap. 157:203-211
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Chemotherapy, education.field_of_study, business.industry, medicine.medical_treatment, Incidence (epidemiology), Population, Cancer, General Medicine, Disease, 030204 cardiovascular system & hematology, medicine.disease, Surgery, 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, medicine, Risk assessment, business, education, Complication
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4
المؤلفون: Anna, Dávid, Henriett, Butz, Zita, Halász, Dóra, Török, Gábor, Nyirő, Ágota, Muzsnai, Violetta, Csákváry, Andrea, Luczay, Ágnes, Sallai, Éva, Hosszú, Enikő, Felszeghy, Attila, Tar, Zsuzsanna, Szántó, Gy László, Fekete, Imre, Kun, Attila, Patócs, Rita, Bertalan
المصدر: Orvosi hetilap. 158(34)
مصطلحات موضوعية: Homeodomain Proteins, Male, Hungary, Anthropometry, Short Stature Homeobox Protein, Prevalence, Humans, Female, Genetic Testing, Child, Body Height, Growth Disorders, Microsatellite Repeats
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5
المؤلفون: Hajna, Losonczy, Ágnes, Nagy, Attila, Tar
المصدر: Orvosi hetilap. 157(6)
مصطلحات موضوعية: Evidence-Based Medicine, Risk Factors, Incidence, Neoplasms, Outpatients, Anticoagulants, Humans, Antineoplastic Agents, Venous Thromboembolism, Heparin, Low-Molecular-Weight, Risk Assessment, Biomarkers
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6
المؤلفون: Attila Tar, Marianna Dávid, György Blaskó, Hajna Losonczy, Zoltán Boda, György Pfliegler, Miklós Udvardy
المصدر: Orvosi Hetilap. 151:1365-1374
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Primary prevention, Antithrombotic, medicine, Inflammatory Bowel Diseases, General Medicine, business, Venous thromboembolism, Thrombotic complication, Surgical patients, Surgery
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7
المؤلفون: Anette Bøe Wolff, Margit Zeher, Beáta Tóth, László Maródi, Attila Tar, Zita Halász, Melinda Erdos, István Ilyés, Gyula Szegedi, Péter Szüts, Eystein S. Husebye
المصدر: Clinical Endocrinology. 72:641-647
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Radioimmunoassay, medicine.disease_cause, Compound heterozygosity, Autoimmunity, Young Adult, Endocrinology, Internal medicine, Humans, Medicine, Chronic mucocutaneous candidiasis, Child, Polyendocrinopathies, Autoimmune, Aged, Autoantibodies, Family Health, Polymorphism, Genetic, Base Sequence, biology, business.industry, Age Factors, Autoantibody, Infant, Middle Aged, medicine.disease, Autoimmune regulator, Pedigree, Autoimmune polyendocrine syndrome, Interferon Type I, Mutation, Immunology, biology.protein, Primary immunodeficiency, Female, Antibody, business, Polymorphism, Restriction Fragment Length, Transcription Factors
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8
المؤلفون: Attila Tar, Hajna Losonczy
المصدر: Orvosi Hetilap. 151:843-852
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Vitamin K, International Cooperation, Risk Assessment, Care setting, Fibrinolytic Agents, Polysaccharides, Risk Factors, Prevalence, medicine, Humans, Risk factor, Acute hospital, Aged, Hungary, Inpatients, business.industry, Anticoagulants, Venous Thromboembolism, General Medicine, Heparin, Low-Molecular-Weight, Middle Aged, Hospitals, Cross-Sectional Studies, Fondaparinux, Female, business, Venous thromboembolism, Stockings, Compression
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9
المؤلفون: Célia Ravel, Attila Tar, Anu Bashamboo, Giovanna Vinci, Hassan Rouba, Frenny Sheth, Ken McElreavey, Raja Brauner, Jayesh Sheth
المصدر: Fertility and Sterility. 92:1347-1350
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, DNA Mutational Analysis, Molecular Sequence Data, Gonadal dysgenesis, Biology, Testicle, urologic and male genital diseases, medicine.disease_cause, Male infertility, Internal medicine, medicine, Humans, Amino Acid Sequence, Genetic Testing, Gene, Infertility, Male, Genetic testing, Gonadal Dysgenesis, 46,XY, Azoospermia, Mutation, Chromosomes, Human, Y, Sequence Homology, Amino Acid, medicine.diagnostic_test, urogenital system, Infant, Newborn, Case-control study, Nuclear Proteins, Obstetrics and Gynecology, medicine.disease, Endocrinology, medicine.anatomical_structure, Reproductive Medicine, Case-Control Studies, Female, Sudden Infant Death
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10
المؤلفون: Hajna Losonczy, Attila Tar
المصدر: Hungarian Medical Journal. 2:539-549
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11
المؤلفون: Hajna, Losonczy, Attila, Tar
المصدر: Orvosi Hetilap. 149:2069-2076
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Cross-sectional study, Risk Assessment, Care setting, Young Adult, Risk Factors, Prevalence, Humans, Medicine, Risk factor, Acute hospital, Aged, Aged, 80 and over, Hungary, Inpatients, business.industry, Venous Thromboembolism, General Medicine, Middle Aged, Hospitals, Primary Prevention, Cross-Sectional Studies, Female, business, Venous thromboembolism
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12Academic Journal
المؤلفون: Zeheng Jiao, Yong Han, Jingjing Zhao, Zixi Chao, Attila Tárnok, Zheng You
المصدر: Microsystems & Nanoengineering, Vol 8, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Technology, Engineering (General). Civil engineering (General), TA1-2040
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2055-7434
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13
المؤلفون: Jan Lebl, Valentin Fadeyev, Pärt Peterson, Anatoly Tiulpakov, Daniela Cihakova, Sameh Tawfik, Peter Blümel, Kai Krohn, Maarit Heino, Katarina Trebusak, Tadej Battelino, Zita Halász, Attila Tar
المصدر: Human Mutation. 18:225-232
مصطلحات موضوعية: Genetics, Mutation, animal structures, Haplotype, Autoantibody, Biology, medicine.disease_cause, Autoimmune regulator, Autoimmunity, Eastern european, Antigen, Immunology, medicine, Gene, Genetics (clinical)
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14
المؤلفون: E. Erdei, N. Souleyreau-Therville, Lluis Quintana-Murci, Marc Fellous, Ken McElreavey, G. Arvis, D. Delafontaine, Sandrine Barbaux, J.-P. Dadoune, Csilla Krausz, E. Jeandidier, Jean Pierre Siffroi, Attila Tar, J. M. Antoine, Thomas Bourgeron, Hassan Rouba, G. Plessis, J. P. Taar
المصدر: The Journal of Clinical Endocrinology & Metabolism. 84:3606-3612
مصطلحات موضوعية: Genetics, Infertility, Azoospermia, Y chromosome microdeletion, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Chromosome, Reproductive technology, Biology, medicine.disease, Y chromosome, Biochemistry, Male infertility, Endocrinology, Oligospermia, medicine
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15
المؤلفون: Asteroula Papathanasiou, Miklós Merksz, Robert Dumas, Charles Sultan, Marc Fellous, Borbála Györvári, Corinne Cotinot, Francis Jaubert, Charalambos Theodoridis, Angela Silva Barbosa, Attila Tar, Patrick Niaudet, Carlos Alberto Moreira-Filho, Charalambos G Hadjiathanasiou
المصدر: Human Mutation. 13:146-153
مصطلحات موضوعية: Genetics, Denys–Drash syndrome, Mutation, Transition (genetics), Point mutation, Wilms' tumor, Biology, medicine.disease, medicine.disease_cause, Frasier syndrome, Exon, medicine, Missense mutation, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::50b1e34183037e4bc88bfb24f0c4be94
https://doi.org/10.1002/(sici)1098-1004(1999)13:2<146::aid-humu7>3.0.co;2-i -
16
المؤلفون: Attila Tar, Borbála Györvári, Sandrine Barbaux, Alexandra Ion, Ken McElreavey, Marc Fellous, János Sólyom, M. Nunes, C. Stephenson
المصدر: American Journal of Medical Genetics. 68:231-235
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Chromosomes, Human, Pair 20, Chromosome Disorders, Locus (genetics), Chromosomal translocation, Biology, Polymerase Chain Reaction, Translocation, Genetic, Mineralocorticoids, Internal medicine, medicine, Humans, Abnormalities, Multiple, Testosterone, Hypertelorism, Glucocorticoids, Genetics (clinical), Chromosome Aberrations, Hypospadias, Sexual differentiation, Nuclear Proteins, Karyotype, DNA, medicine.disease, Sex-Determining Region Y Protein, DNA-Binding Proteins, Blotting, Southern, Endocrinology, Testis determining factor, Receptors, Androgen, Karyotyping, Male sex differentiation, medicine.symptom, Oxidoreductases, Chromosomes, Human, Pair 8, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab38b2092dd0203d4c5bf62d4a3ab48e
https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<231::aid-ajmg22>3.0.co;2-u -
17
المؤلفون: Károly Minik, Erzsébet Ladányi, Ildikó Vámosi, Ákos Kiss, Attila Tar, László Ságodi, Valéria Lukács
المصدر: Orvosi hetilap. 151(48)
مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Ovariectomy, Biology, Steroidogenic Factor 1, XY gonadal dysgenesis, medicine, Biomarkers, Tumor, Humans, Genes, sry, Primary amenorrhea, Gonadal Steroid Hormones, Amenorrhea, Gynecology, Gonadal Dysgenesis, 46,XY, Menarche, Ovary, Puberty, General Medicine, medicine.disease, DNA-Binding Proteins, Phenotype, Treatment Outcome, Karyotyping, Mutation, Female, RNA Splicing Factors, Pure gonadal dysgenesis, Transcription Factors
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18
المؤلفون: Marianna, Dávid, Hajna, Losonczy, Miklós, Udvardy, Zoltán, Boda, György, Blaskó, Attila, Tar, György, Pfliegler
المصدر: Orvosi hetilap. 151(34)
مصطلحات موضوعية: Infections, Risk Assessment, Autoimmune Diseases, Body Mass Index, Contraceptives, Oral, Hormonal, Varicose Veins, Pulmonary Disease, Chronic Obstructive, Risk Factors, Neoplasms, Surveys and Questionnaires, Humans, Genetic Predisposition to Disease, Obesity, Registries, Hungary, Age Factors, Anticoagulants, Venous Thromboembolism, Inflammatory Bowel Diseases, Hospitalization, Primary Prevention, Venous Insufficiency, Surgical Procedures, Operative, Mutation, Practice Guidelines as Topic, Nephrosis, Respiratory Insufficiency, Locomotion
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19
المؤلفون: Attila, Tar, Júlia, Singer
المصدر: Orvosi hetilap. 143(11)
مصطلحات موضوعية: Analgesics, Papaverine, Vasodilator Agents, Humans, Parasympatholytics
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20
المؤلفون: Eric Vilain, Alexandra Ion, Marc Fellous, Ken McElreavey, Borbála Györvári, Attila Tar, Louise Telvi, Sandrine Barbaux, János Sólyom, N. Souleyreau
المصدر: Human genetics. 96(4)
مصطلحات موضوعية: Male, Gonad, X Chromosome, Disorders of Sex Development, Locus (genetics), Biology, Polymerase Chain Reaction, Testis, Genetics, medicine, Humans, Disorders of sex development, Child, Genetics (clinical), X chromosome, Southern blot, Lymphoblast, Karyotype, DNA, medicine.disease, medicine.anatomical_structure, Testis determining factor, Karyotyping, Female, Pigmentation Disorders, Gene Deletion
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