المؤلفون: Kira Mascho, Svetlana A. Yatsenko, Cecilia W. Lo, Xinxiu Xu, Jennifer Johnson, Lindsey R. Helvaty, Stephanie Burns Wechsler, Chaya N. Murali, Seema R. Lalani, Vidu Garg, Jennelle C. Hodge, Kim L. McBride, Stephanie M. Ware, Jiuann-Huey Ivy Lin

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: 5p deletion, congenital heart defect, genetic disorder, left ventricular outflow tract obstruction, copy number variant, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1451746/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/2ea28b86dde34d79982956d3247450a9

المؤلفون: Benjamin J. Landis, Lindsey R. Helvaty, Gabrielle C. Geddes, Jiuann‐Huey Ivy Lin, Svetlana A. Yatsenko, Cecilia W. Lo, William L. Border, Stephanie Burns Wechsler, Chaya N. Murali, Mahshid S. Azamian, Seema R. Lalani, Robert B. Hinton, Vidu Garg, Kim L. McBride, Jennelle C. Hodge, Stephanie M. Ware

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 18 (2023)

مصطلحات موضوعية: chromosomal microarray, congenital heart disease, conotruncal defects, genomics, neurodevelopment, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2047-9980

URL الوصول: https://doaj.org/article/3ce4e66e20b2416085e8144a51318ce2

المؤلفون: Vandana Baloda, Sarah E. Wheeler, David L. Murray, Mindy C. Kohlhagen, Jeffrey A. VosUPMC, Svetlana A. Yatsenko, Mounzer E. Agha, Miroslav Djokic, Steven H. Swerdlow, Nathanael G. Bailey

المصدر: Diagnostic Pathology, Vol 17, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Pathology, RB1-214

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1746-1596

URL الوصول: https://doaj.org/article/66e9e01504544a3b8aa15c60ac068919

المؤلفون: Aseel Alsouqi, Jeffrey Kleinberger, Taylor S Werner, Rashid Awan, Saurav Chopra, Bryan Rea, Nidhi Aggarwal, Svetlana A. Yatsenko, Rafic Farah, Nathanael G. Bailey

المصدر: Haematologica, Vol 108, Iss 11 (2023)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/11070; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/09a388c1d05c4224908f33e18b9c59a8

المؤلفون: Vandana Baloda, Sarah E. Wheeler, David L. Murray, Mindy C. Kohlhagen, Jeffrey A. Vos, Svetlana A. Yatsenko, Mounzer E. Agha, Miroslav Djokic, Steven H. Swerdlow, Nathanael G. Bailey

المصدر: Diagnostic Pathology, Vol 17, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Pathology, RB1-214

Relation: https://doi.org/10.1186/s13000-022-01265-w; https://doaj.org/toc/1746-1596; https://doaj.org/article/f6f673d9a9774d93b0a375f4e53e20aa

الاتاحة: https://doi.org/10.1186/s13000-022-01265-w
https://doaj.org/article/f6f673d9a9774d93b0a375f4e53e20aa

المؤلفون: Shireen S. Ganapathi, Sunil S. Raikar, Svetlana A. Yatsenko, Miroslav Djokic, Andrew Bukowinski

المصدر: Cancer Reports, Vol 4, Iss 4, Pp n/a-n/a (2021)

مصطلحات موضوعية: mixed phenotype acute leukemia (MPAL), mTOR inhibitors, NRAS, NUP98‐NSD1, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2573-8348

URL الوصول: https://doaj.org/article/f6d38d946bf246e8a2fc2f35f194fb88

المؤلفون: Jun Liao, Keith A. Coffman, Joseph Locker, Quasar S. Padiath, Bruce Nmezi, Robyn A. Filipink, Jie Hu, Malini Sathanoori, Suneeta Madan‐Khetarpal, Marianne McGuire, Allison Schreiber, Rocio Moran, Neil Friedman, Lori Hoffner, Aleksandar Rajkovic, Svetlana A. Yatsenko, Urvashi Surti

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)

مصطلحات موضوعية: benign hereditary chorea, chromosome 14q13.2‐q13.3, copy number variations, NKX2‐1, non‐coding regulatory elements, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/6c3424bc2ff047dfb5cfdc13a434b42c

المؤلفون: Mahmoud Aarabi, Jennifer M. Yoest, Rafic Farah, Aleksandar Rajkovic, Steven H. Swerdlow, Svetlana A. Yatsenko

المصدر: The Journal of Molecular Diagnostics. 24:1067-1078

مصطلحات موضوعية: Chromosome Aberrations, Humans, Molecular Medicine, Multiple Myeloma, Neoplasms, Plasma Cell, In Situ Hybridization, Fluorescence, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fa88702ce2833af9c48e01cdfa9d41
https://doi.org/10.1016/j.jmoldx.2022.07.002

المؤلفون: Matthew J, Schmitz, Mahmoud, Aarabi, Ali, Bashar, Aleksandar, Rajkovic, Anthony R, Gregg, Svetlana A, Yatsenko

المصدر: Clinical Genetics. 102:87-97

مصطلحات موضوعية: Heterozygote, Genetics, Genetic Variation, Humans, Exome, Genes, Recessive, Genomics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a4e96c28ad33f5d7d4054e3d60e43c
https://doi.org/10.1111/cge.14148

المؤلفون: Yen-Chun Liu, Gwendolyn M. Illar, Raniah Al Amri, Briana C. Canady, Bryan Rea, Svetlana A. Yatsenko, Julia T. Geyer

المصدر: Modern Pathology. 35:625-631

مصطلحات موضوعية: Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::114d0ded58e18463a33bbb455643925e
https://doi.org/10.1038/s41379-021-00958-9

المؤلفون: Svetlana A. Yatsenko, Sarah E. Gibson, Yen-Chun Liu, Steven H. Swerdlow, Nicholas Barasch

المصدر: Modern Pathology. 35:60-68

مصطلحات موضوعية: Pathology, medicine.medical_specialty, EZH2, Biology, medicine.disease, Marginal zone, BCL6, Pathology and Forensic Medicine, immune system diseases, hemic and lymphatic diseases, Cancer genetics, Follicular phase, medicine, Centroblasts, Immunoglobulin heavy chain, B-cell lymphoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cbf86a154d7d4211f94a64b3d2f1d715
https://doi.org/10.1038/s41379-021-00938-z

المؤلفون: Svetlana A. Yatsenko, Timur G. Ibodulaev, Roman A. Bogdanov

المصدر: Транспорт наука техника управление. :55-59

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::21a81d27680c0a2fa2c57e21e0f36002
https://doi.org/10.36535/0236-1914-2022-10-9

المؤلفون: Svetlana A. Yatsenko, Aleksandar Rajkovic

المصدر: Textbook of Human Reproductive Genetics ISBN: 9781009197700

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6ccf46cbeff1a198181c506cf523ae71
https://doi.org/10.1017/9781009197700.007

المؤلفون: Angela Verdoni, Michele Clemens, Rebecca Clark, Melanie Babcock, Aleksandar Rajkovic, Sarah Drewes, Leslie Walsh, Joe Sanfilippo, Elizabeth Sheehan, Devereux N. Saller, Urvashi Surti, Svetlana A. Yatsenko, Sunita Katari, Jie Hu

المصدر: Genetics in Medicine. 23:1753-1760

مصطلحات موضوعية: Male, 0301 basic medicine, Infertility, Abortion, Habitual, medicine.medical_specialty, Aneuploidy, Fertilization in Vitro, Reproductive technology, 030105 genetics & heredity, Biology, Translocation, Genetic, Miscarriage, 03 medical and health sciences, Pregnancy, medicine, Humans, Preimplantation Diagnosis, Genetics (clinical), Obstetrics, Meiosis II, medicine.disease, 030104 developmental biology, Nondisjunction, Products of conception, Karyotyping, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3846133f24c2eb189e75612b3b85f9cc
https://doi.org/10.1038/s41436-021-01195-w

المؤلفون: Andrey A. Krasnov, Svetlana N. Yatsenko, Nikita A. Penkov

المصدر: Solid State Phenomena. 316:862-867

مصطلحات موضوعية: 010302 applied physics, Materials science, 3d model, 02 engineering and technology, 021001 nanoscience & nanotechnology, Condensed Matter Physics, 01 natural sciences, Atomic and Molecular Physics, and Optics, Manufacturing engineering, Resource (project management), Machining, 0103 physical sciences, General Materials Science, 0210 nano-technology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b0c3eedc5e97396023504b280f7af269
https://doi.org/10.4028/www.scientific.net/ssp.316.862

المؤلفون: Gwendolyn M Illar, Nidhi Aggarwal, Eric D Carlsen, Yen-Chun Liu, Nathanael G. Bailey, Svetlana A. Yatsenko, Bryan Rea, Matthew Wild

المصدر: American Journal of Clinical Pathology. 155:446-454

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, NPM1, Adolescent, DNA Mutational Analysis, medicine.disease_cause, Young Adult, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, medicine, Humans, neoplasms, Aged, Cell Proliferation, Aged, 80 and over, Mutation, Cell growth, business.industry, Incidence (epidemiology), High-Throughput Nucleotide Sequencing, Nuclear Proteins, Myeloid leukemia, General Medicine, Middle Aged, medicine.disease, Peripheral blood, Leukemia, Myeloid, Acute, 030104 developmental biology, medicine.anatomical_structure, Chromosome abnormality, Cancer research, Female, Bone marrow, business, Nucleophosmin, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33694e03d9f0c691040215602481ffbb
https://doi.org/10.1093/ajcp/aqaa150

المؤلفون: Masomeh Askari, Svetlana A. Yatsenko, Robin Lovell-Badge, Tiphanie Merel-Chali, Balázs Gellén, Nitzan Gonen, Leila Fusee, Rana Mainpal, Mariana Costanzo, Inas Mazen, Anu Bashamboo, Anahita Mohseni Meybodi, Esperanza Berensztein, Joelle Bignon-Topalovic, Caroline Eozenou, Natalia Perez Garrido, Alicia Belgorosky, Andrea J. Berman, Roberta Migale, Ken McElreavey, Rita Bertalan, Alaa K. Kamel, Mona K. Mekkawy, Maria Sol Touzon, Priti Singh, Pablo Ramirez, Gabriela Guercio, Aleksandar Rajkovic, Mehdi Totonchi, Selma F. Witchel, Roxana Marino, John C. Schimenti, Anne Jørgensen

المساهمون: Génétique du développement humain, Institut Pasteur [Paris], The Francis Crick Institute [London], The Mina & Everard Goodman Faculty of Life Sciences [Ramat Gan, Israël], Université Bar-Ilan [Israel], Hospital Nacional de Pediatría Prof. Dr Juan P. Garrahan [Buenos Aires], Copenhagen University Hospital, University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), National Research Centre - NRC (EGYPT), University of Szeged [Szeged], Cornell University [New York], Children's Hospital of Pittsburgh of UPMC [Etats-Unis], Royan Institute for Reproductive Biomedicine [Tehran, Iran], Semmelweis University [Budapest], University of California, Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), This work is supported by the European Cooperation in Science and Technology (COST) Action DSDnet BM1303 (to A. Bashamboo and K.M.). N.G and R.L.-B. are funded by the Francis Crick Institute. The Francis Crick Institute receives its core funding from Cancer Research UK Grant FC001107, UK Medical Research Council Grant FC001107, Wellcome Grant FC001107, and by UK Medical Research Council Grant U117512772. M.S.T. and A. Belgorosky are supported by PIDC-20160028 Fondo Nacional de Ciencia y Tecnologia, Argentina, Grant PICT-2013-0181y PICT2016-0214, Agencia Nacional para Ciencia y Tecnologia, Argentina, and Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Argentina. A.R. is funded by NIH Grants R01HD070647 and R21HD074278. A.J. is funded by a research grant from the Svend Andersen Foundation and the Danish Government’s support to Department of Growth and Reproduction for the International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) programme. A.J.B. is supported by NIH Grant GM116889 and American Cancer Society Research Scholar Grant RSG-17-1.97-01-RMC, We are grateful to the Biological Research Facility, Genetic Modification Service, and Experimental Histopathology Facilities of the Francis Crick Institute. We acknowledge Dr. László Tiszlavicz (Pathological Department, University of Szeged, Hungary) for the histological examination of Patients 5a and 5b and Dr. Alejandro Suárez-Bonnet (Experimental Histopathology at Francis Crick Institute) for pathology report on mouse embryonic kidneys., Institut Pasteur [Paris] (IP), Bar-Ilan University [Israël], University of California (UC), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), ANR-17-CE14-0038,MGonDev,Etude des mécanismes du développement des gonades chez l'homme(2017)

المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩

مصطلحات موضوعية: 0301 basic medicine, Wt1 gene, Gonad, organogenesis, sex determination, 030209 endocrinology & metabolism, Biology, 03 medical and health sciences, 0302 clinical medicine, β-CATENIN, medicine, Gene, Exome sequencing, Zinc finger, Genetics, Multidisciplinary, urogenital system, Wilms' tumor, medicine.disease, XX TDSD/OTDSD, WT1, 030104 developmental biology, medicine.anatomical_structure, Testis determining factor, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Etiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f28b185a9a5aeb46bd22dbfa6cc25dd
https://doi.org/10.1073/pnas.1921676117

المؤلفون: Nathanael G. Bailey, Nidhi Aggarwal, Bryan Rea, Svetlana A. Yatsenko, Yen-Chun Liu

المصدر: Modern Pathology. 33:566-575

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Myeloid, Adolescent, Karyotype, Context (language use), Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Complex Karyotype, Biomarkers, Tumor, medicine, Humans, Genetic Predisposition to Disease, Aged, Aged, 80 and over, Chromosome 7 (human), business.industry, Infant, Myeloid leukemia, Middle Aged, Prognosis, medicine.disease, Isocitrate Dehydrogenase, Leukemia, Myeloid, Acute, Leukemia, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Case-Control Studies, 030220 oncology & carcinogenesis, Chromosome abnormality, Cancer research, Chromosomes, Human, Pair 5, Female, Chromosome Deletion, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b5545f66da0128cb62555155e16f6c7
https://doi.org/10.1038/s41379-019-0396-4

المؤلفون: Vandana Baloda, Nidhi Aggarwal, Flavia G. Rosado, Sarah Mackey, James Felker, Svetlana A. Yatsenko

المصدر: Cytogenetic and genome research.

مصطلحات موضوعية: Genetics, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d438c2d516a72ec44e7dc470c06a97b
https://pubmed.ncbi.nlm.nih.gov/36502796

المؤلفون: Angela M. Verdoni, Megan L. Zilla, Grant Bullock, Terri L. Guinipero, Julia Meade, Svetlana A. Yatsenko

المصدر: American journal of medical genetics. Part AREFERENCES. 188(8)

مصطلحات موضوعية: Chromosome Aberrations, Chromosomes, Human, Pair 21, Genetics, Humans, Ring Chromosomes, Down Syndrome, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Child, Burkitt Lymphoma, Genetics (clinical), Translocation, Genetic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e8867c28f0d42e24b5bf461ba376cb
https://pubmed.ncbi.nlm.nih.gov/35678493