Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Melissa T, Carter"'
Autor:
Ayala Tovy, Carina Rosas, Amos S. Gaikwad, Geraldo Medrano, Linda Zhang, Jaime M. Reyes, Yung-Hsin Huang, Tastuhiko Arakawa, Kristen Kurtz, Shannon E. Conneely, Anna G. Guzman, Rogelio Aguilar, Anne Gao, Chun-Wei Chen, Jean J. Kim, Melissa T. Carter, Amaia Lasa-Aranzasti, Irene Valenzuela, Lionel Van Maldergem, Lorenzo Brunetti, M. John Hicks, Andrea N. Marcogliese, Margaret A. Goodell, Rachel E. Rau
Publikováno v:
Haematologica, Vol 107, Iss 4 (2021)
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth disorder caused by germline heterozygous mutations in the DNA methyltransferase DNMT3A. DNMT3A is a critical regulator of hematopoietic stem cell (HSC) differentiation and somatic DNMT3A mutations
Externí odkaz:
https://doaj.org/article/6079e5ab657743e3ae91733b02a811e1
Autor:
Lijia Huang, Jodi Warman-Chardon, Melissa T. Carter, Kathie L. Friend, Tracy E. Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W. Schofield, Stuart Douglas, Dennis E. Bulman, Kym M. Boycott
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/58bbd68ca6f6467d9133a30712f2476a
Autor:
Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhas, Sarah Dyack, Alison Eaton, Michal Inbar-Feigenberg, Heather Howley, Anne Kawamura, Suzanne M E Lewis, Elizabeth McCready, Tanya N Nelson, Hilary Vallance
Publikováno v:
Journal of Medical Genetics. 60:523-532
Purpose and scopeThe aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with neurodevelopmental disorders (NDDs), specifically, patients with global devel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ac3960c3d9f7dcad0343e0bff398aa1
https://doi.org/10.1136/jmg-2022-108962
https://doi.org/10.1136/jmg-2022-108962
Autor:
Julianne K. Postma, Jessica L. Zambonin, Ebtissal Khouj, Suad Alyamani, John M. Graham, Fowzan S. Alkuraya, Stephen Kundell, Melissa T. Carter
Publikováno v:
American Journal of Medical Genetics Part A. 188:3350-3357
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4b7248eb6c97b6647132e909d792299
https://doi.org/10.1002/ajmg.a.62936
https://doi.org/10.1002/ajmg.a.62936
Autor:
Irene E. Drmic, Bonnie MacKinnon Modi, Beth McConnell, Sanne Jilderda, Ny Hoang, Abdul Noor, Anne S. Bassett, Marsha Speevak, Dimitri J. Stavropoulos, Melissa T. Carter
Publikováno v:
American Journal of Medical Genetics Part A. 188:2999-3008
Microduplication of the LCR22-A to LCR22-D region on chromosome 22q11.2 is a recurrent copy number variant found in clinical populations undergoing chromosomal microarray, and at lower frequency in controls. Often inherited, there is limited data on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e403773a422a70d98010501384e9a5
https://doi.org/10.1002/ajmg.a.62916
https://doi.org/10.1002/ajmg.a.62916
Autor:
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
Publikováno v:
Science Translational Medicine, 15(698):eabo3189. American Association for the Advancement of Science
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which are req
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f08541291a7d8417d62644c4db9e51a
https://doi.org/10.1126/scitranslmed.abo3189
https://doi.org/10.1126/scitranslmed.abo3189
Autor:
Taila, Hartley, Élisabeth, Soubry, Meryl, Acker, Matthew, Osmond, Madeline, Couse, Meredith K, Gillespie, Yoko, Ito, Aren E, Marshall, Gabrielle, Lemire, Lijia, Huang, Caitlin, Chisholm, Alison J, Eaton, E Magda, Price, James J, Dowling, Arun K, Ramani, Roberto, Mendoza-Londono, Gregory, Costain, Michelle M, Axford, Anna, Szuto, Vanda, McNiven, Nadirah, Damseh, Rebekah, Jobling, Leanne, de Kock, Bahareh A, Mojarad, Ted, Young, Zhuo, Shao, Robin Z, Hayeems, Ian D, Graham, Mark, Tarnopolsky, Lauren, Brady, Christine M, Armour, Michael, Geraghty, Julie, Richer, Sarah, Sawyer, Matthew, Lines, Saadet, Mercimek-Andrews, Melissa T, Carter, Gail, Graham, Peter, Kannu, Joanna, Lazier, Chumei, Li, Ritu B, Aul, Tugce B, Balci, Nomazulu, Dlamini, Lauren, Badalato, Andrea, Guerin, Jagdeep, Walia, David, Chitayat, Ronald, Cohn, Hanna, Faghfoury, Cynthia, Forster-Gibson, Hernan, Gonorazky, Eyal, Grunebaum, Michal, Inbar-Feigenberg, Natalya, Karp, Chantal, Morel, Alison, Rusnak, Neal, Sondheimer, Jodi, Warman-Chardon, Priya T, Bhola, Danielle K, Bourque, Inara J, Chacon, Lauren, Chad, Pranesh, Chakraborty, Karen, Chong, Asif, Doja, Elaine Suk-Ying, Goh, Maha, Saleh, Beth K, Potter, Christian R, Marshall, David A, Dyment, Kristin, Kernohan, Kym M, Boycott
Publikováno v:
Clinical geneticsREFERENCES.
We examined the utility of clinical and research processes in the reanalysis of publicly-funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families with suspected rare genetic diseases tested
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d43914a0085155fda4b28bec371c16c8
https://pubmed.ncbi.nlm.nih.gov/36353900
https://pubmed.ncbi.nlm.nih.gov/36353900
Autor:
Christian R. Marshall, Steven P. Miller, Melissa Bradley, Susan Walker, Lukasz Jagiello, Alyssa C. M. Joynt, Kamiar Mireskandari, Stephen W. Scherer, M. Stephen Meyn, Melissa T. Carter, Helen M. Branson, Tayyaba Khan, Robin Z. Hayeems, Diane Wilson, Sylvia Lamoureux, Gregory Costain, Susan Blaser
Publikováno v:
American Journal of Medical Genetics Part A. 185:3129-3135
Variants in JAM3 have been reported in four families manifesting a severe autosomal recessive disorder characterized by hemorrhagic destruction of the brain, subependymal calcification, and cataracts. We describe a 7-year-old male with a similar pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ac69aaababbf4c06949ce0a35172271
https://doi.org/10.1002/ajmg.a.62389
https://doi.org/10.1002/ajmg.a.62389
Autor:
Yung-Hsin Huang, Jean J Kim, Linda Zhang, Anne Gao, Margaret A. Goodell, M. John Hicks, Geraldo Medrano, Kristen Kurtz, Jaime M. Reyes, Amaia Lasa-Aranzasti, Chun-Wei Chen, Amos Gaikwad, Lionel Van Maldergem, Anna Guzman, Shannon E Conneely, Carina Rosas, Rogelio Aguilar, Tastuhiko Arakawa, Lorenzo Brunetti, Rachel E. Rau, Ayala Tovy, Melissa T. Carter, Andrea N. Marcogliese, Irene Valenzuela
Publikováno v:
Haematologica. 107:887-898
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth disorder caused by germline heterozygous mutations in the DNA methyltransferase DNMT3A. DNMT3A is a critical regulator of hematopoietic stem cell (HSC) differentiation and somatic DNMT3A mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee1158ac5183ad23ebdd58bdb646b2e
https://doi.org/10.3324/haematol.2021.278990
https://doi.org/10.3324/haematol.2021.278990
Publikováno v:
American Journal of Medical Genetics Part A. 185:1757-1766
Neurodevelopmental disorders (NDDs) are genetically heterogeneous. There are many possible etiological investigations for NDDs, and a lack of clear and current guidelines for such testing. Here we characterize the practices of genetic and metabolic p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc9b4e1d53303ccae0b9b2515053625
https://doi.org/10.1002/ajmg.a.62167
https://doi.org/10.1002/ajmg.a.62167