المؤلفون: Emily Spector, Erica Andersen, John Herriges, Anne Higgins, Brynn Levy, Ludmila Matyakhina, Christa Martin, Daniel Pineda-Alvarez, Lina Shao, Shashirekha Shetty, Andrea Vaags, Erik Thorland, Sung-Hae Kang, Chelsea Lowther, Dominic McMullan, Erin Riggs

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101482- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424006289; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/6b825c0959e04ded8ace392a65ab52d6

المؤلفون: Ganka Douglas, Jeanne Meck, Lindsay Havens Dyer, Rhonda Brandon, Lisa Dyer, Patricia Fernandez Ferri, Mingjuan Liao, Shuxi Liu, Ludmila Matyakhina, Evica Rajcan-Separovic, Laura Sack, May Sanyoura, Wei Wang, Paul Kruszka

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100500- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423005009; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/d954158160c74fa187360331d5abe6cb

المؤلفون: Wei Wang, Lindsay Henderson, Julie Scuffins, Lisa Dyer, Lindsay Havens Dyer, Ganka Douglas, Kristin Monaghan, Michelle Morrow, Ludmila Matyakhina

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100630- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423006301; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/1d6655510e8046f3bfe9914c0d69cbea

المؤلفون: Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: TCF20, 22q13, Neurodevelopmental disorders, Smith–Magenis syndrome, Haploinsufficiency, Loss-of-function variants, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-019-0623-0; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/d24638f2efce49c3b8ea400cc414438d

المؤلفون: Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder Jr, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-2 (2019)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-019-0630-1; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/9deb62b3cdbb447d9597c9b55e926986

المؤلفون: Constantine A. Stratakis, Yoon S. Cho-Chung, Elise Meoli, Edward Claflin, Frank D. Weinberg, Sara Lenherr, Audrey Robinson-White, Sotirios Stergiopoulos, Ludmila Matyakhina, Lawrence S. Kirschner, Kurt J. Griffin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce9bea6c13c8d649a4480ecb8a612b9
https://doi.org/10.1158/0008-5472.c.6493725

المؤلفون: Constantine A. Stratakis, Yoon S. Cho-Chung, Elise Meoli, Edward Claflin, Frank D. Weinberg, Sara Lenherr, Audrey Robinson-White, Sotirios Stergiopoulos, Ludmila Matyakhina, Lawrence S. Kirschner, Kurt J. Griffin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76948a3508be5b857634b0dc801fecec
https://doi.org/10.1158/0008-5472.22363467.v1

المؤلفون: Constantine A. Stratakis, Yoon S. Cho-Chung, Elise Meoli, Edward Claflin, Frank D. Weinberg, Sara Lenherr, Audrey Robinson-White, Sotirios Stergiopoulos, Ludmila Matyakhina, Lawrence S. Kirschner, Kurt J. Griffin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1901264bf31d5403966aa734b1f24f87
https://doi.org/10.1158/0008-5472.22363470.v1

المؤلفون: Constantine A. Stratakis, Yoon S. Cho-Chung, Elise Meoli, Edward Claflin, Frank D. Weinberg, Sara Lenherr, Audrey Robinson-White, Sotirios Stergiopoulos, Ludmila Matyakhina, Lawrence S. Kirschner, Kurt J. Griffin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d63723a3f66b1de57d22a7b28607c53
https://doi.org/10.1158/0008-5472.22363473

المؤلفون: Ryan L. Collins, Joseph T. Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella, Lide Han, Theodore Morley, Lisa-Marie Niestroj, Jacob Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack Fu, Konrad J. Karczewski, Georgios Kellaris, Chelsea Lowther, Diane Lucente, Kiana Mohajeri, Margit Nõukas, Xander Nuttle, Kaitlin E. Samocha, Mi Trinh, Farid Ullah, Urmo Võsa, Matthew E. Hurles, Swaroop Aradhya, Erica E. Davis, Hilary Finucane, James F. Gusella, Aura Janze, Nicholas Katsanis, Ludmila Matyakhina, Benjamin M. Neale, David Sanders, Stephanie Warren, Jennelle C. Hodge, Dennis Lal, Douglas M. Ruderfer, Jeanne Meck, Reedik Mägi, Tõnu Esko, Alexandre Reymond, Zoltán Kutalik, Hakon Hakonarson, Shamil Sunyaev, Harrison Brand, Michael E. Talkowski, Andres Metspalu, Mari Nelis, Lili Milani

المصدر: Cell. 185(16)

مصطلحات موضوعية: DNA Copy Number Variations, Genome, Human, Gene Dosage, Humans, Haploinsufficiency, General Biochemistry, Genetics and Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17307c59b0ee7e2e8f4e67507536aebb
https://pubmed.ncbi.nlm.nih.gov/36042286

المؤلفون: Lawrence S. Kirschner, Donna F. Kusewitt, Ludmila Matyakhina, Contact The Aacr, William H. Towns Ii, J. Aidan Carney, Heiner Westphal, Constantine A. Stratakis

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://cancerres.aacrjournals.org/content/65/11/4506.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.318.1066; http://cancerres.aacrjournals.org/content/65/11/4506.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.318.1066
http://cancerres.aacrjournals.org/content/65/11/4506.full.pdf

المؤلفون: Kurt J. Griffin, Lawrence S. Kirschner, Ludmila Matyakhina, Sotirios Stergiopoulos, Audrey Robinson-white, Sara Lenherr, Frank D. Weinberg, Edward Claflin, Elise Meoli, Yoon S. Cho-chung, Constantine A. Stratakis

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://segen.nichd.nih.gov/documents/8811.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.334.4235; http://segen.nichd.nih.gov/documents/8811.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.334.4235
http://segen.nichd.nih.gov/documents/8811.pdf

المؤلفون: Leads To Endocrine, Other Tumors, Kurt J. Griffin, Contact The Aacr, Lawrence S. Kirschner, Ludmila Matyakhina, Sotirios Stergiopoulos, Audrey Robinson-white, Sara Lenherr, Frank D. Weinberg, Edward Claflin, Elise Meoli, Yoon S. Cho-chung, Constantine A. Stratakis

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://cancerres.aacrjournals.org/content/64/24/8811.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.320.4539; http://cancerres.aacrjournals.org/content/64/24/8811.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.320.4539
http://cancerres.aacrjournals.org/content/64/24/8811.full.pdf

المؤلفون: Daniel E. Pineda-Alvarez, Anastasia Kondakova, Julie Scuffins, Lindsay Schmidt, Daniel Schmidt, Eden Haverfield, Kyle Retterer, Ludmila Matyakhina, Swaroop Aradhya, Rachel Lewis, Jeanne Meck, Federica Gibellini, Amanda Stafford, Amanda Blair, Sherri J. Bale, Stephanie Warren

المصدر: Genetics in Medicine. 17:623-629

مصطلحات موضوعية: Comparative Genomic Hybridization, DNA Copy Number Variations, Clinical cohort, Microarray analysis techniques, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Context (language use), DNA, Computational biology, Biology, Cohort Studies, Exon, Genetic variation, Humans, Exome, Algorithms, Genetics (clinical), Exome sequencing, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b56a5ab27b74ee93236f185ef26221
https://doi.org/10.1038/gim.2014.160

المؤلفون: Ramaprasad Srinivasan, Ludmila Matyakhina, Philip N. Mowrey, Gulsun Erdag, Aurelia Meloni-Ehrig, Theresa Donohue, Jo Ann C. Kelly, Aleah Smith, Jeanne M. Meck, Richard W. Childs

المصدر: Cancer Genetics and Cytogenetics. 190:125-130

مصطلحات موضوعية: Male, Cancer Research, Cyclophosphamide, Chronic lymphocytic leukemia, Biology, Article, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Genetics, medicine, Humans, Molecular Biology, Aged, Chromosome Aberrations, Hematopoietic Stem Cell Transplantation, Myeloid leukemia, Middle Aged, medicine.disease, Fludarabine, Transplantation, Haematopoiesis, medicine.anatomical_structure, Immunology, Female, Bone marrow, Stem cell, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e24a91c7630ce47492ec65e6d506ba8a
https://doi.org/10.1016/j.cancergencyto.2009.01.001

المؤلفون: Elise Meoli, Somya Verma, Jennifer Siegel, Lionel Groussin, Elaine F. Remmers, Ludmila Matyakhina, Christoforos Giatzakis, Audrey Robinson-White, Frank Weinberg, Elizabeth Levine, C. A. Stratakis, Ioannis Bossis, M Nesterova, J A Carney, Jérôme Bertherat, Payal D. Soni, Anelia Horvath

المصدر: Clinical Cancer Research. 14:388-395

مصطلحات موضوعية: Genetics, Cancer Research, Mutation, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Protein subunit, Multiple Endocrine Neoplasia, Mutant, Exons, Biology, medicine.disease_cause, medicine.disease, Molecular biology, Cell Line, Exon, Oncology, medicine, Humans, Haploinsufficiency, PRKAR1A, Gene, Carney complex, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02221e1ae219e8ca701db17df0a78402
https://doi.org/10.1158/1078-0432.ccr-07-1155

المؤلفون: Barbara Ferrando, Michael Muchow, Sosipatros Boikos, Constantine A. Stratakis, Barbara Pasini, J. Aidan Carney, Thalia Bei, Ludmila Matyakhina

المصدر: The Journal of Clinical Endocrinology & Metabolism. 92:3728-3732

مصطلحات موضوعية: Gastro-intestinal stromal tumour, intestinal neurofibromatosis, PDGF receptor alpha, germline mutations, Pathology, medicine.medical_specialty, Receptor, Platelet-Derived Growth Factor alpha, Gastrointestinal Stromal Tumors, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, PDGFRA, Gene mutation, Biology, medicine.disease_cause, Biochemistry, Germline, Neoplasms, Multiple Primary, Endocrinology, Germline mutation, medicine, Humans, neoplasms, Germ-Line Mutation, Aspartic Acid, Mutation, Base Sequence, GiST, Biochemistry (medical), Valine, Middle Aged, digestive system diseases, Cancer research, Female, Carcinogenesis, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05c4502ba53a61fa42c60eab2cc0d42
https://doi.org/10.1210/jc.2007-0894

المؤلفون: Guillaume Assié, Maria C. Cid, Constantine A. Stratakis, Charis Eng, Ludmila Matyakhina, J. Aidan Carney, Amalia Dutra, Rolf C. Gaillard, Thalia Bei, Evgenia Pak, Sosipatros Boikos, Sotirios Stergiopoulos, Barbara Pasini, Fulgencio Gomez, Bora E. Baysal, Silke Cameron, Sarah R. McWhinney, Bastian Gunawan, László Füzesi, Elias Campo, Michael Muchow

المصدر: The Journal of Clinical Endocrinology & Metabolism. 92:2938-2943

مصطلحات موضوعية: Male, Lung Neoplasms, SDHB, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Gene Dosage, Loss of Heterozygosity, Biochemistry, paraganglioma, 0302 clinical medicine, Endocrinology, Paraganglioma, Tumor Cells, Cultured, Child, In Situ Hybridization, Fluorescence, Gastrointestinal Neoplasms, Genetics, 0303 health sciences, Carney Triad, gastro-instestinal stromal tumour, Nucleic Acid Hybridization, DNA, Neoplasm, Immunohistochemistry, 3. Good health, Succinate Dehydrogenase, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Female, Carney Stratakis syndrome, Adult, medicine.medical_specialty, Adolescent, Gastrointestinal Stromal Tumors, PDGFRA, Biology, 03 medical and health sciences, Germline mutation, Internal medicine, medicine, Humans, Germ-Line Mutation, Retrospective Studies, 030304 developmental biology, Biochemistry (medical), medicine.disease, SDHD, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d0428c1e7b2753cf9e346868fe2e067
https://doi.org/10.1210/jc.2007-0797

المؤلفون: Sosipatros Boikos, Fabiano Sandrini, Sotirios Stergiopoulos, Ludmila Matyakhina, Isabelle Bourdeau, Constantine A. Stratakis

المصدر: The Journal of Clinical Endocrinology & Metabolism. 91:3626-3632

مصطلحات موضوعية: medicine.medical_specialty, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Adrenal Gland Neoplasm, Adrenocorticotropic hormone, Biology, Biochemistry, Cushing syndrome, Endocrinology, Internal medicine, Adrenal Glands, Cyclic AMP, medicine, Humans, Multiple endocrine neoplasia, Cushing Syndrome, PRKAR1A, Carney complex, Alleles, In Situ Hybridization, Fluorescence, Hyperplasia, Reverse Transcriptase Polymerase Chain Reaction, Biochemistry (medical), medicine.disease, Cyclic AMP-Dependent Protein Kinases, Immunohistochemistry, Macronodular Adrenal Hyperplasia, Mutation, Cancer research, RNA, Chromosomes, Human, Pair 17, Primary pigmented nodular adrenocortical disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a20e643a78729a4335020ab5e72364e8
https://doi.org/10.1210/jc.2005-2608

المؤلفون: S R Bornstein, Sotirios Stergiopoulos, Andrew J. Bauer, Elise Meoli, Lawrence S. Kirschner, S M Lenherr, Isabelle Bourdeau, Fabiano Sandrini, C. A. Stratakis, Audrey Robinson-White, J A Carney, Yoon S. Cho-Chung, Frank Weinberg, A Voutetakis, E S Claflin, Dalia L. Batista, Ludmila Matyakhina, Kurt J. Griffin

المصدر: Journal of Medical Genetics. 41:923-931

مصطلحات موضوعية: Adrenal Cortex Diseases, Genetically modified mouse, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Transgene, Adrenal Gland Neoplasms, Down-Regulation, Loss of Heterozygosity, Cyclic AMP-Dependent Protein Kinase Type II, Mice, Transgenic, Biology, Mice, Neoplastic Syndromes, Hereditary, Endocrine Gland Neoplasms, Genetics, medicine, Animals, Humans, Genes, Tumor Suppressor, Thyroid Neoplasms, Kinase activity, Protein kinase A, PRKAR1A, Carney complex, Alleles, Genetics (clinical), Proteins, medicine.disease, Cyclic AMP-Dependent Protein Kinases, Chromosome 17 (human), Phenotype, Mutation, Cancer research, Original Article, Gene Deletion, Primary pigmented nodular adrenocortical disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f98e7740c9e95017a1f4520312cdac7d
https://doi.org/10.1136/jmg.2004.028043