المؤلفون: Franziska Albrecht, Karsten Mueller, Tommaso Ballarini, Klaus Fassbender, Jens Wiltfang, Markus Otto, Robert Jech, Mattias L. Schroeter, Adrian Danek, Janine Diehl-Schmid, Holger Jahn, Jan Kassubek, Johannes Kornhuber, Bernhard Landwehrmeyer, Martin Lauer, Johannes Prudlo, Anja Schneider, Albert C. Ludolph, Klaus Fliesbach, Sarah Anderl-Straub, Katharina Brüggen, Marie Fischer, Hans Förstl, Anke Hammer, György Homola, Walter Just, Johannes Levin, Nicolai Marroquin, Anke Marschhauser, Danielé Pino, Magdalena Nagl, Timo Oberstein, Lea Hüper, Maryna Polyakova, Hannah Pellkofer, Tanja Richter-Schmidinger, Carola Rossmeier, Marianna Kulko, Elisa Semler, Annika Spottke, Petra Steinacker, Angelika Thöne-Otto, Ingo Uttner, Heike Zech

المصدر: Heliyon, Vol 10, Iss 15, Pp e34910- (2024)

مصطلحات موضوعية: Progressive supranuclear palsy, Magnetic resonance imaging, Resting-state functional connectivity, Voxel-based morphometry, Eigenvector centrality, Support vector machine, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024109413; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/512938e68e87433097744a778848f048

المؤلفون: Masin Abo-Rady, Norman Kalmbach, Arun Pal, Carina Schludi, Antje Janosch, Tanja Richter, Petra Freitag, Marc Bickle, Anne-Karin Kahlert, Susanne Petri, Stefan Stefanov, Hannes Glass, Selma Staege, Walter Just, Rajat Bhatnagar, Dieter Edbauer, Andreas Hermann, Florian Wegner, Jared L. Sterneckert

المصدر: Stem Cell Reports, Vol 14, Iss 3, Pp 390-405 (2020)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221367112030031X; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/15576128a76a4db4a3714084cbbcfe19

المؤلفون: Nana Weber-Lassalle, Jan Hauke, Juliane Ramser, Lisa Richters, Eva Groß, Britta Blümcke, Andrea Gehrig, Anne-Karin Kahlert, Clemens R. Müller, Karl Hackmann, Ellen Honisch, Konstantin Weber-Lassalle, Dieter Niederacher, Julika Borde, Holger Thiele, Corinna Ernst, Janine Altmüller, Guido Neidhardt, Peter Nürnberg, Kristina Klaschik, Christopher Schroeder, Konrad Platzer, Alexander E. Volk, Shan Wang-Gohrke, Walter Just, Bernd Auber, Christian Kubisch, Gunnar Schmidt, Judit Horvath, Barbara Wappenschmidt, Christoph Engel, Norbert Arnold, Bernd Dworniczak, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

المصدر: Breast Cancer Research, Vol 20, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Breast cancer, Ovarian cancer, BRIP1 gene, Germline mutations, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13058-018-0935-9; https://doaj.org/toc/1465-542X

URL الوصول: https://doaj.org/article/951e74b0cfc6446ab5113f955636b95b

المؤلفون: Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreiro

المصدر: PLoS ONE, Vol 11, Iss 9, p e0162592 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/565a694955634103955bf34667d877b8

المؤلفون: Barbara Wappenschmidt, Eva Maria Fallenberg, N Herold, Kerstin Rhiem, Denise Horn, Stefanie Pertschy, Karin Kast, Achim Wöckel, Ulrike Siebers-Renelt, Susanne Briest, Marion Kiechle, Walter Just, Christoph Engel, Claus R. Bartram, Markus Loeffler, Dorothee Speiser, Christoph Mundhenke, Karolin Bucksch, AS Vesper, Silke Zachariae, Pauline Wimberger, M Maringa, Nicola Dikow, Jutta Giesecke, Brigitte Schlegelberger, Elena Leinert, Sarah Schott, Eric Hahnen, Ulrich Bick, Rita K. Schmutzler, Anne S. Quante, Simone Reichstein-Gnielinski, Norbert Arnold, Stefanie Weigel, Christine Fischer, Verena Hübbel, Andrea Gehrig, Tanja Fehm

المصدر: International Journal of Cancer. 146:999-1009

مصطلحات موضوعية: Adult, Heterozygote, Cancer Research, medicine.medical_specialty, Population, Breast Neoplasms, Risk Assessment, Contralateral breast cancer, 03 medical and health sciences, Brca1 2 mutation, 0302 clinical medicine, Breast cancer, Risk Factors, Germany, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Prospective Studies, Family history, Medical History Taking, skin and connective tissue diseases, education, Prospective cohort study, BRCA2 Protein, education.field_of_study, BRCA1 Protein, business.industry, Incidence, Age Factors, Middle Aged, medicine.disease, Oncology, 030220 oncology & carcinogenesis, Epidemiological Monitoring, Mutation, Mutation (genetic algorithm), Female, Ovarian cancer, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f796bcd845b569e4e6347529d6276e2b
https://doi.org/10.1002/ijc.32396

المؤلفون: Wilfred F. J. van IJcken, Walter Just, Joost Gribnau, J. Anton Grootegoed, Eskeatnaf Mulugeta, Edith Heard, Esther Sleddens-Linkels, Willy M. Baarends, Evelyne Wassenaar

المساهمون: Developmental Biology, Cell biology

المصدر: Genome Research, 26(9), 1202-1210. Cold Spring Harbor Laboratory Press

مصطلحات موضوعية: Male, 0301 basic medicine, X Chromosome, Transcaucasian mole vole, Biology, Y chromosome, X-inactivation, Mice, 03 medical and health sciences, 0302 clinical medicine, Y Chromosome, Genetics, Animals, Genetics (clinical), X chromosome, Mammals, Sex Chromosomes, Arvicolinae, Research, Chromosome, Karyotype, Sex Determination Processes, biology.organism_classification, Chromosomes, Mammalian, Ellobius, 030104 developmental biology, Testis determining factor, Karyotyping, Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71211d9c4f895cde2e37a5d7fcdb6572
https://hdl.handle.net/1765/97088

المؤلفون: Cornelia Kraus, Trevor Cole, Denise Horn, Hartmut Engels, Christiane Zweier, Gabriele Gillessen-Kaesbach, Walter Just, Hermann-Josef Lüdecke, Juliane Hoyer, André Reis, Bernd Wollnik, Michael Zeschnigk, Franziska Degenhardt, Luitgard Graul-Neumann, Dagmar Wieczorek, Louise Brueton, Anita Rauch

المساهمون: University of Zurich, Zweier, Christiane

المصدر: Journal of Medical Genetics. 50:838-847

مصطلحات موضوعية: Adult, 2716 Genetics (clinical), medicine.medical_specialty, Clinodactyly, Adolescent, 10039 Institute of Medical Genetics, DNA Mutational Analysis, Medizin, 610 Medicine & health, Biology, Fingers, Young Adult, 1311 Genetics, Molecular genetics, Genetics, medicine, Humans, Obesity, Multiplex ligation-dependent probe amplification, Child, Growth Disorders, Genetics (clinical), Epilepsy, Foot, Hypogonadism, Brachydactyly, Börjeson-Forssman-Lehmann syndrome, Hand, medicine.disease, Phenotype, Repressor Proteins, Face, Skin hyperpigmentation, Mutation, Mental Retardation, X-Linked, 570 Life sciences, biology, Medical genetics, Female, medicine.symptom, Carrier Proteins

وصف الملف: Zweier_C._et_al,_A_new_face_of_Borjeson-Forssman-Lehmann_syndrome.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3d11487ae8ff18a2307a5c21202320b
https://doi.org/10.1136/jmedgenet-2013-101918

المؤلفون: Marco Montagna, Bruno Buecher, Goska Leslie, Daniel Barrowdale, Anita Bane, Louise Izatt, Eitan Friedman, Yosr Hamdi, Kenneth Offit, Klaartje van Engelen, Soo Hwang Teo, Frans B. L. Hogervorst, Conxi Lázaro, Sylvie Mazoyer, Diana Eccles, Yuan Chun Ding, Laura Papi, Georgia Chenevix-Trench, Katarzyna Kaczmarek, Laima Tihomirova, Jacek Gronwald, Jocelyne Chiquette, Patricia A. Ganz, Thomas P. Slavin, Kathleen Claes, Paolo Radice, Elizabeth J. van Rensburg, Adalgeir Arason, Lenka Foretova, Milena Mariani, Johanna Rantala, Pascaline Berthet, Evgeny N. Imyanitov, Claudine Isaacs, Esther M. John, Maite Laurent, Irene L. Andrulis, Juul T. Wijnen, Paolo Peterlongo, Susan M. Domchek, Banu Arun, Amanda E. Toland, Anna Marie Mulligan, Penny Soucy, Kristiina Aittomäki, Orland Diez, Heli Nevanlinna, Anne-Marie Gerdes, Austin Miller, Olufunmilayo I. Olopade, Raymonda Varon-Mateeva, Alfons Meindl, Cecilia M. Dorfling, Niklas Loman, Paul A. James, Susan L. Neuhausen, Muy Kheng Tea, Inge Søkilde Pedersen, Arnaud Droit, D. Gareth Evans, Mark E. Robson, Jennifer T. Loud, Jan C. Oosterwijk, Judy Garber, Douglas F. Easton, Jacques Simard, Mark H. Greene, Pamela S. Ganschow, Edith Olah, Audrey Lemaçon, Norbert Arnold, Catherine M. Phelan, Gad Rennert, Judy Kirk, Johanna Sokolowska, Tomi Pastinen, Robert L. Nussbaum, Simon A. Gayther, Karoline B. Kuchenbaeker, Mads Thomassen, Ros Eeles, Riccardo Dolcetti, Hanne Meijers-Heijboer, Marc Tischkowitz, George Fountzilas, Laure Barjhoux, Kristie Bobolis, Christoph Engel, Bernardo Bonanni, Sue K. Park, Beth Y. Karlan, Nicolas Sevenet, Bent Ejlertsen, Wendy K. Chung, Timothy R. Rebbeck, Amanda B. Spurdle, Peter J. Hulick, Mary B. Daly, Yen Y. Tan, Annelie Liljegren, Carolien M. Kets, Miguel de la Hoya, Gord Glendon, Mieke Kriege, Rita K. Schmutzler, Manuel R. Teixeira, Christine Rappaport-Fuerhauser, Pedro Pérez Segura, William D. Foulkes, Rosemarie Davidson, Steven N. Hart, Javier Benitez, Jenny Lester, Melissa C. Southey, Ramunas Janavicius, Uffe Birk Jensen, Zakaria Einbeigi, Christian F. Singer, Jacopo Azzollini, Alex Teulé, David E. Goldgar, Ans M.W. van den Ouweland, Anna Jakubowska, Angela R. Bradbury, Dominique Stoppa-Lyonnet, Carole Brewer, Zsofia K. Stadler, Nadine Tung, Eric Hahnen, Vijai Joseph, Grzegorz Sukiennicki, Siranoush Manoukian, Debra Frost, Maria A. Caligo, Andrew K. Godwin, Christian Sutter, Bernard Peissel, Andrea L. Richardson, Kim De Leeneer, Antonis C. Antoniou, Florentia Fostira, Lesley McGuffog, Matti A. Rookus, Mary Beth Terry, Saundra S. Buys, Fabienne Lesueur, Gustavo C. Rodriguez, Julian Adlard, Barbara Wappenschmidt, Marinus J. Blok, Yael Laitman, Rob B. van der Luijt, Thomas Hansen, Francesca Damiola, Katherine L. Nathanson, Silje Nord, Kai Ren Ong, Ana Osorio, Katie Snape, Fergus J. Couch, John L. Hays, Walter Just, Ute Hamann, Silvia Tognazzo, Payal D. Shah, Valérie Bonadona, Ida Marie Heeholm Sonderstrup, Lídia Feliubadaló

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), European Research Council, Cancer Research UK (Reino Unido), Post-cancer GWAS Initiative, United States Department of Defense, Research Council of Lithuania, Asociación Española Contra el Cáncer, Red Temática de Investigación Cooperativa en Cáncer (España), Fondation ARC pour la recherche sur le cancer, Canadian Institutes of Health Research, Ministère de Économie, Innovation et Exportation (Canadá), University of Kansas. Cancer Center (Estados Unidos), Deutsche Krebshilfe, Leipzig Research Centre for Civilization Diseases, Non-therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI), Instituto de Salud Carlos III, Finlands Akademi (Finlandia), Dutch Cancer Society (Holanda), Dutch Research Council (Holanda), Pink Ribbons Project, Biobanking and BioMolecular resources Research Infrastructure (Países Bajos), Transcan Grant JTC Cancer, Hungarian Research Grants, Government of Catalonia (España), Ministry of Health and Welfare (Corea del Sur), United States of Department of Health & Human Services, State Budget of the Czech Republic (RECAMO), Charles University (República Checa), Westat (Estados Unidos), Russian Foundation for Basic Research, GOG Foundation. Gynecologic Oncology Group, Italian Association for Cancer Research, Clinical Genetics, CCA - Cancer biology and immunology, Human genetics, Epidemiology and Data Science, Human Genetics, Leslie, Goska [0000-0001-5756-6222], Tischkowitz, Marc [0000-0002-7880-0628], Easton, Douglas [0000-0003-2444-3247], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Medicum, Clinicum, Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON)

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Breast Cancer Research and Treatment, 161(1), 117-134. Springer, Cham
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Fostira, F, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment, 161(1), 117-134. Springer New York
Breast Cancer Research and Treatment, 161, 1, pp. 117-134
Breast Cancer Research and Treatment, 161, 117-134
Hamdi, Y; Soucy, P; Kuchenbaeker, KB; Pastinen, T; Droit, A; Lemacon, A; et al.(2017). Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. BREAST CANCER RESEARCH AND TREATMENT, 161(1), 117-134. doi: 10.1007/s10549-016-4018-2. UCLA: Retrieved from: http://www.escholarship.org/uc/item/03k1w9cm
Breast Cancer Research and Treatment, 161(1), 117-134
Breast Cancer Research and Treatment, 161(1), 117. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Jensen, U B, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117–134 . https://doi.org/10.1007/s10549-016-4018-2
Breast cancer research and treatment, 161(1), 117-134. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Azzollini, J, Arun, B K, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, EMBRACE, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Fostira, F, Gerdes, A-M, Easton, D F, Antoniou, A C & Simard, J 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
kConFab Investigators, HEBON, GEMO Study Collaborators & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
BREAST CANCER RESEARCH AND TREATMENT
Repisalud
Instituto de Salud Carlos III (ISCIII)
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Engelen, K, EMBRACE, GEMO Study Collaborators, HEBON & KConFab Investigators 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benítez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Díez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Gerdes, A-M, Thomassen, M & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment, 161(1), 117-134. SPRINGER

مصطلحات موضوعية: 0301 basic medicine, Genetic modifiers, Cancer Research, Epidemiology, Genes, BRCA2, BRCA1 and BRCA2 mutation carriers, Genes, BRCA1, Gene Expression, Gene mutation, DISEASE, Breast cancer, 3123 Gynaecology and paediatrics, Medicine and Health Sciences, INVESTIGATORS, mutation carriers, skin and connective tissue diseases, Genetics, 1184 Genetics, developmental biology, physiology, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Oncology, Female, Differential allelic expression, Risk, Heterozygote, 3122 Cancers, Quantitative Trait Loci, NPAT, Single-nucleotide polymorphism, Locus (genetics), Breast Neoplasms, Quantitative trait locus, Biology, OVARIAN-CANCER, 03 medical and health sciences, CYCLIN E-CDK2, SDG 3 - Good Health and Well-being, Journal Article, medicine, Genetic predisposition, Genetic susceptibility, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Allele, BRCA1 and BRCA2, Alleles, Genetic association, HUMAN-CELLS, Chromosomes, Human, Pair 11, CONSORTIUM, Genetic Variation, DNA, medicine.disease, 030104 developmental biology, Mutation, Cis-regulatory variants, 3111 Biomedicine

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8cf2d9bb045cb1dbafc6fe95cfcd7b
https://hdl.handle.net/20.500.12530/33541

المؤلفون: Rajini Sreenivasan, Pascal Bernard, Ryohei Sekido, Kevin Christopher Knower, Stefan Bagheri-Fam, Walter Just, Vincent R. Harley, Robin Lovell-Badge

المصدر: Chromosome Research. 20:191-199

مصطلحات موضوعية: Male, endocrine system, Gonad, Genetic Vectors, Molecular Sequence Data, Y chromosome, Conserved sequence, Evolution, Molecular, Mice, Y Chromosome, Testis, Genetics, medicine, Animals, Humans, Cloning, Molecular, Enhancer, Conserved Sequence, Sequence Deletion, Regulation of gene expression, Binding Sites, Base Sequence, Models, Genetic, biology, Arvicolinae, Genetic Variation, SOX9 Transcription Factor, Sequence Analysis, DNA, Sex Determination Processes, biology.organism_classification, Ellobius, HEK293 Cells, Testis determining factor, medicine.anatomical_structure, Gene Expression Regulation, Mutagenesis, Site-Directed, Ellobius tancrei, Female, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a3ed27ef0328cd93f20d34ad8eb0c6
https://doi.org/10.1007/s10577-011-9269-5

المؤلفون: Dietmar Müller, Walter Just, Judith J. Reiber, Yves Sznajer, Stanislas Lyonnet, Clarisse Baumann, Elena Guillén Posteguillo

المصدر: American Journal of Medical Genetics Part A. :994-999

مصطلحات موضوعية: Adult, Male, Adolescent, Molecular Sequence Data, Single-nucleotide polymorphism, Biology, medicine.disease_cause, DNA sequencing, Conserved sequence, Young Adult, Exon, Pregnancy, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Gene, Conserved Sequence, Genetics (clinical), Mutation, Infant, Newborn, Infant, Exons, medicine.disease, Transcription Factor AP-2, Child, Preschool, Female, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5f8b8b16b62c6a2f2681ea61b5bc27b
https://doi.org/10.1002/ajmg.a.33331

المؤلفون: Annette Baumstark, W. Rens, W. Vogel, Irina Bakloushinskaya, Horst Hameister, N. Schäfer, Alexander S. Graphodatsky, A. Süss, Walter Just

المصدر: Sexual Development. 1:211-221

مصطلحات موضوعية: Genetics, Embryology, Autosome, biology, Endocrinology, Diabetes and Metabolism, Chromosome, social sciences, biology.organism_classification, X-inactivation, Ellobius, Testis determining factor, parasitic diseases, Vole, geographic locations, X chromosome, Sex linkage, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7af11af87e27bb91de259044063977ac
https://doi.org/10.1159/000104771

المؤلفون: Horst Hameister, Annette Baumstark, Irina Bakloushinskaya, Walter Just, Mikhayil Hakhverdyan

المصدر: Mammalian Genome. 16:281-289

مصطلحات موضوعية: Male, Molecular Sequence Data, Male sex determination, Rodentia, Sequence Analysis, Protein, Genetics, Animals, Cluster Analysis, Amino Acid Sequence, Cloning, Molecular, Gene, In Situ Hybridization, Fluorescence, DNA Primers, biology, Chromosome Mapping, Chromosome, Sex Determination Processes, Sex reversal, biology.organism_classification, Chromosomes, Mammalian, Human genetics, Pedigree, DNA-Binding Proteins, Ellobius, Testis determining factor, Female, Lod Score, Heterogametic sex, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c7d38da4d8ef9cf9b36a9deeaa47b1
https://doi.org/10.1007/s00335-004-2019-7

المؤلفون: Olivier Abbo, Quentin Ballouhey, Walter Just, Eric Bieth, Philippe Galinier, Frederic Vaysse

المصدر: Journal of Plastic, Reconstructive & Aesthetic Surgery. 65:1573-1575

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Pathology, business.industry, Infant, Newborn, Mutation, Missense, Rare entity, De novo mutation, Phenotype, Surgery, Transcription Factor AP-2, Mutation (genetic algorithm), Humans, Medicine, Missense mutation, Female, business, Transcription factor, Gene, Branchio-Oto-Renal Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76dd1b9d47087e424c0df5fd1500b23e
https://doi.org/10.1016/j.bjps.2012.03.045

المؤلفون: Moritz Rostásy, Hans-Henning Arnold, Mildred Kramer, Elke Troppmann, Olaf Hiort, Bernd Rösler, Michael Wegner, Friederike Denzer, Orietta Radi, Jillian R. Mann, James German, Simon Kaltenbach, Elisabeth Sock, Colm Costigan, John H Seguin, Gerd Scherer, William Zipf, Gwang-Jin Kim, Trevor Cole, Sebastian A Widholz, Peter Wieacker, Hoepffner W, Astrid Buchberger, Hardi Schmiady, Anika Salfelder, Giovanna Camerino, Ina Georg, Anne-Christin Teichmann, Walter Just

مصطلحات موضوعية: Male, endocrine system, DNA Copy Number Variations, Male sex determination, Disorders of Sex Development, SOX9, Regulatory Sequences, Nucleic Acid, Biology, Cell Line, XY gonadal dysgenesis, Cohort Studies, Mice, Medizinische Fakultät, Genetics, medicine, Animals, Humans, Disorders of sex development, ddc:610, Enhancer, Genetics (clinical), SOX9 Transcription Factor, Sex reversal, medicine.disease, Molecular biology, Pedigree, Campomelic dysplasia, Testis determining factor, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf1bb5ebaf3476f6bdcb569220968ff
https://opus4.kobv.de/opus4-fau/files/7890/Kim_copy_number.pdf

المؤلفون: Antonio Percesepe, Fabrizio Ferrari, Silvia Palma, Licia Lugli, Elisabetta Genovese, Walter Just

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Eye, Pathology and Forensic Medicine, Imaging, Three-Dimensional, Inner ear malformation, X ray computed, medicine, Humans, Eye Abnormalities, Genetics (clinical), medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Early Diagnosis, Ear, Inner, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Radiology, Anatomy, mutation, business, Tomography, X-Ray Computed, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfd2c60411c4cf5716d1a797d21b25a2
http://journals.lww.com/clindysmorphol/Citation/2015/01000/Early_diagnosis_of_branchio_oculo_facial_syndrome.4.aspx

المؤلفون: Alexandre Serra, Guenther Rettenberger, Thomas F. E. Barth, Martin Wabitsch, Doris Henne-Bruns, Friederike Denzer, Clothilde Leriche, Walter Just, Gotthold Barbi, Olaf Hiort

مصطلحات موضوعية: Intersexualität, Embryology, endocrine system, Gonad, Disorders of sex development, Endocrinology, Diabetes and Metabolism, true hermaphroditism, Karyotype, Intersexualit��t, mechanism, Biology, Polymorphism, Single Nucleotide, prenatal-diagnosis, Somatic mosaicism 45,X/46,XY/46,XX, Ovotesticular disorders of sex development, Ambiguous genitalia, Preoperative Care, medicine, True hermaphroditism, Humans, ddc:610, In Situ Hybridization, Fluorescence, X chromosome, Genetics, Chromosomes, Human, X, Chromosomes, Human, Y, Mosaicism, Uniparental disomy, human chimera, Cystoscopy, medicine.disease, Testis determining factor, medicine.anatomical_structure, Uniparental Isodisomy, 46,xx/46,xy hermaphrodite, Fertilization, DDC 610 / Medicine & health, Microsatellite Repeats, Developmental Biology, SNP array

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02bea22a33189ee8f510958bd2de5f38

المؤلفون: Cordian Beyer, Ingrid Reisert, Günter Ehret, Stephen C. Maxson, Magdalena Karolczak, Walter Just

المصدر: Behavior Genetics. 32:103-111

مصطلحات موضوعية: medicine.medical_specialty, Autosome, Aggression, Locus (genetics), Sex reversal, Biology, Y chromosome, Endocrinology, Testis determining factor, Internal medicine, Genetics, medicine, medicine.symptom, Paternal care, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, X chromosome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a2bc48e67468d9f8a334c3217318b367
https://doi.org/10.1023/a:1015297622509

المؤلفون: I. Reisert, Walter Just, Annette Baumstark, B. Schreiner, Horst Hameister, Mikhayil Hakhverdyan, W. Vogel

المصدر: Cytogenetic and Genome Research. 96:146-153

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Gonad, biology, Cytogenetics, biology.organism_classification, Genome, Ellobius, medicine.anatomical_structure, Gene expression, medicine, Molecular Biology, Gene, Genetics (clinical), Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d61d024d8b92566eaebb2300be40822f
https://doi.org/10.1159/000063031

المؤلفون: Dieter Niederacher, Mateja Smogavec, Kerstin Rhiem, Ulrike Faust, Bernd Dworniczak, Judit Horvath, Gunnar Schmidt, Norbert Arnold, Bernhard H. F. Weber, Jan Hauke, Walter Just, Eva Gross, Rita K. Schmutzler, Christian Sutter, Andrea Gehrig, Juliane Ramser, Julia Hentschel, Karl Hackmann, Eric Hahnen, Esther Pohl

المصدر: Journal of Clinical Oncology. 35:1526-1526

مصطلحات موضوعية: 0301 basic medicine, Genetics, Cancer Research, business.industry, PALB2, medicine.disease, Germline, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Oncology, 030220 oncology & carcinogenesis, Cohort, Medicine, RAD51C, Copy-number variation, business, Ovarian cancer, CHEK2, Illumina dye sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::affdb9f9415651ca7e1cebe391808d65
https://doi.org/10.1200/jco.2017.35.15_suppl.1526

المؤلفون: T Trummer, Walter Just, Rolf E. Brenner, Ingo Kennerknecht, Walther Vogel

المصدر: Clinical Genetics. 59:338-343

مصطلحات موضوعية: Genetics, Mutation, Point mutation, Biology, medicine.disease, medicine.disease_cause, Osteochondrodysplasia, Serine, Osteogenesis imperfecta, medicine, Transversion, Gene, Genetics (clinical), Cysteine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::110f59d1032d5bd288af7cad01e33d3b
https://doi.org/10.1034/j.1399-0004.2001.590507.x