Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Emily W. Modlin, Anne M. Slavotinek, Thomas N. Darling, Stanley Lipkowitz, Frederic G. Barr, Pamela N. Munster, Leslie G. Biesecker, Christopher A. Ours
Publikováno v:
American Journal of Medical Genetics Part A. 188:2766-2771
Publikováno v:
Pediatr Dermatol
Background/objective Proteus syndrome, caused by a mosaic activating AKT1 variant, typically presents in toddlers with progressive, asymmetric overgrowth of the skin and bones. We aimed to define the spectrum of dermatologic disease in individuals wi
Autor:
Katie L. Lewis, Erin Turbitt, Grace Ann Fasaye, Sandra Epps, Barbara B. Biesecker, Lori H. Erby, Leslie G. Biesecker, Priscilla A. Chan
Publikováno v:
J Genet Couns
Although genetic counseling is traditionally done through in-person, one-on-one visits, workforce shortages call for efficient result return mechanisms. Studies have shown that telephone and in-person return of cancer genetic results are equivalent f
Autor:
Leslie G. Biesecker
Publikováno v:
Cassidy and Allanson's Management of Genetic Syndromes. :707-716
Autor:
Beth Stronach, Lisa Schoyer, Dominic Esposito, Katherine A. Rauen, Edjay R. Hernandez, Leslie G. Biesecker, Bruce D. Gelb, Mignon L. Loh, Andrea M. Gross, Pamela L. Wolters, Deborah K. Morrison, Megan N. Frone, Frank McCormick, Karen W. Gripp, Eric Legius, Lisa Schill, Staci Martin, Sharon A. Savage, Marielle E. Yohe, Brigitte C. Widemann, Douglas R. Stewart, Dina Zand
Publikováno v:
Am J Med Genet A
RASopathies caused by germline pathogenic variants in genes that encode RAS pathway proteins. These disorders include neurofibromatosis type 1 (NF1), Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), and Costello syndrome (CS), and others. R
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:
null Sofia Douzgou, null Myfanwy Rawson, null Eulalia Baselga, null Moise Danielpour, null Laurence Faivre, null Alon Kashanian, null Kim M. Keppler‐Noreuil, null Paul Kuentz, null Grazia M. S. Mancini, null Marie‐Cecile Maniere, null Victor Martinez‐Glez, null Victoria E. Parker, null Robert K. Semple, null Siddharth Srivastava, null Pierre Vabres, null Marie‐Claire Y. Wit, null John M. Graham, null Jill Clayton‐Smith, null Ghayda M. Mirzaa, null Leslie G. Biesecker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::decc8deedb7356735388062c50b7264b
https://doi.org/10.1111/cge.14027/v2/response1
https://doi.org/10.1111/cge.14027/v2/response1
Autor:
Keiko Hikino, Barbara W. Brandom, Sephalie Patel, Ronald J. Gordon, Rebecca Pulk, Leslie G. Biesecker, Katrin Sangkuhl, Robert T. Dirksen, Stephen G. Gonsalves, Teresa Vo, S. Mark Poler, Dan M. Roden, Teri E. Klein, Kelly E. Caudle, Maria L. Alvarellos
Publikováno v:
Clinical Pharmacology & Therapeutics. 105:1338-1344
The identification in a patient of 1 of the 50 variants in the RYR1 or CACNA1S genes reviewed here should lead to a presumption of malignant hyperthermia susceptibility (MHS). MHS can lead to life-threatening reactions to potent volatile anesthetic a
Autor:
Sun A Kim, Theo Heller, Leslie G. Biesecker, Sungyoung Auh, Varun Takyar, Rachna Patel, Julie C. Sapp, Kim M. Keppler-Noreuil, Alexander Ling, Divya Khattar
Publikováno v:
Am J Med Genet A
Proteus syndrome (PS) is a rare disorder caused by a mosaic AKT1 variant that comprises patchy overgrowth of tissues derived from all three germinal layers affecting multiple viscera. We sought to delineate the extent of hepatoportal manifestations i