Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Kim M. Keppler-Noreuil"'
Autor:
Linda M. Reis, David J. Amor, Raad A. Haddad, Catherine B. Nowak, Kim M. Keppler-Noreuil, Smith Ann Chisholm, Elena V. Semina
Publikováno v:
Genes, Vol 14, Iss 10, p 1948 (2023)
Axenfeld–Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated with other systemic abnormalities. PITX2 and FOXC1 variants explain the majority of individuals with Axenfeld–Rieger syndrome (ARS) but leave ~30% unsolved.
Externí odkaz:
https://doaj.org/article/2deb21ad72ea4a499a44425ad228007b
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subunit alpha. These mu
Externí odkaz:
https://doaj.org/article/9b9632ea430a49429caa13f23fbb9509
Autor:
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury-Ecob, Sian Ellard, Hana Lango Allen, Emily P Yu, Ramil Noche, Suzi Walker, Stephen W Scherer, Sonal Mahida, Christopher M Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier-Veber, Francois Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M Keppler-Noreuil, Lucy Drayson, Kristin W Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frederic Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay Henderson, Lauren Brady, Mark Tarnopolsky, Matthew Bainbridge, Jennifer Friedman, Yline Capri, Larissa Athayde, Fernando Kok, Juliana Gurgel-Giannetti, Luiza L P Ramos, Susan Blaser, James J Dowling, Rosanna Weksberg
The blood–brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity of the blood–brain barrier. We have identified de novo heterozygous missense v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f5b7a48a2c525d610b1e49ea2bf631
https://www.repository.cam.ac.uk/handle/1810/344185
https://www.repository.cam.ac.uk/handle/1810/344185
Autor:
Kim M, Keppler-Noreuil, Jasmine, Burton-Akright, David E, Kleiner, Julie C, Sapp, Marjorie J, Lindhurst, Chen G, Han, Leslie G, Biesecker, Bernadette R, Gochuico
Publikováno v:
Annals of the American Thoracic Society. 19:1871-1880
Autor:
Michael S Broder, Denise M Adams, Guillame Canaud, Christy Collins, Kristen Davis, Ilona J. Frieden, Sarah N Gibbs, Adrienne M Hammill, Kim M Keppler-Noreuil, Taizo A Nakano, Anthony Penington, Siddharth Srivastava, Megha M Tollefson, Matthew L Warman
Publikováno v:
Journal of Vascular Anomalies. 4:e067
Autor:
Anna Lehman, Tugce B. Balci, Kyle C. Kurek, Renee Perrier, Carol Diamond, Caitlin A Chang, Glenda Hendson, Stephen Yip, Juvianee I Estrada-Veras, Jennifer M Tran, Kim M. Keppler-Noreuil, Jason W Pinchot, Lisa M. Arkin, Beth A. Drolet, Melanie Napier, Sarah A O'Neill
Publikováno v:
American Journal of Medical Genetics Part A. 185:2829-2845
Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo-cranio-cutaneous lipomatosis, and Schimmelpenning-Feuerstein-Mims syndromes, and a spectrum of vascular malformations, overgrowth and other associated anomalies, the latt
Autor:
Kim M. Keppler-Noreuil, Margaret P. Adam, William B. Dobyns, Aaron P Adam, Cynthia J. Curry, Judith G. Hall
Publikováno v:
American Journal of Medical Genetics Part A. 182:2646-2661
Several recurrent malformation associations affecting the development of the embryo have been described in which a genetic etiology has not been found, including LBWC, MURCS, OAVS, OEIS, POC, VACTERL, referred to here as "recurrent constellations of
Autor:
Julie C. Sapp, Leslie G. Biesecker, Anna Buser, Kim M. Keppler-Noreuil, Jasmine Burton-Akright
Publikováno v:
Am J Med Genet C Semin Med Genet
Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p.E17K variant in AKT1. As well, a number of overlapping overgrowth di
Autor:
Jay N. Lozier, Neal L. Oden, Jasmine Burton-Akright, Anjali Taneja, Leslie G. Biesecker, Kim M. Keppler-Noreuil, Julie C. Sapp
Publikováno v:
Am J Med Genet C Semin Med Genet
Increased risk of thromboembolism has been recognized in individuals with mosaic overgrowth disorders, Proteus syndrome (PS) and PIK3CA-related overgrowth spectrum (PROS), including Klippel–Trenaunay syndrome and CLOVES syndrome. PS and PROS have d
Autor:
John M. Graham, Joseph T. Shieh, Alan F. Rope, Philip F Giampietro, Lynne M. Bird, Roberta A Pagon, John C. Carey, Katta M. Girisha, Cathy A. Stevens, David D. Weaver, Margaret P. Adam, William B. Dobyns, Bryan D. Hall, Elaine H. Zackai, Chad R. Haldeman-Englert, Anne C. Tsai, A. Micheil Innes, Marc S. Williams, Ian A. Glass, David A. Stevenson, Kenjiro Kosaki, Beth A. Kozel, Jennifer M. Kalish, Michael J. Bamshad, John J. Mulvihill, Robin D. Clark, Anne Slavotinek, Kim M. Keppler-Noreuil, Anita E. Beck, Małgorzata J.M. Nowaczyk, Cynthia J. Curry, Fowzan S. Alkuraya, Ghayda M. Mirzaa, Timothy C. Cox, Anne Amemiya, Karen W. Gripp, Wen-Hann Tan, Andrew K. Sobering, Yuri A. Zarate, Mary Beth Dinulos, Laurie H. Seaver, James T. Bennett, Leslie G. Biesecker, Kyle Retterer, Tiong Yang Tan, Brian H.Y. Chung, Pedro A. Sanchez-Lara
Publikováno v:
Am J Hum Genet