Zobrazeno 31 - 40
of 449
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Leslie G. Biesecker, Erin Turbitt, Jennifer M. Taber, Barbara B. Biesecker, Chloe O. Huelsnitz, William M. P. Klein, Katie L. Lewis
Publikováno v:
Journal of Behavioral Medicine
Although romantic couple concordance has been demonstrated across a wide array of health behaviors, little research has examined dyadic concordance in health beliefs. This study examined the extent to which cohabitating romantic dyads’ attitudes an
Autor:
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Phil M Hopkins, Natalia Kraeva, Mungunsukh Ognoon, K Bailey Radenbaugh, Sheila Riazi, Rachel L Robinson, Louis A Saddic, III, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie G Biesecker
The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the ACMG/AMP criteria for RYR1-related MHS and a pilot analysis of 84 variants was published. We have now classified an additional 251 variants for RYR1-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea3ac5967860f9b5cc51dddd7bc3bb5
https://doi.org/10.1101/2022.06.23.497341
https://doi.org/10.1101/2022.06.23.497341
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:
Andrew J Bradley, Julie C. Sapp, Evrim B. Turkbey, Leslie G. Biesecker, S. Mojdeh Mirmomen, Andrew E. Arai, Arlene Sirajuddin
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Scientific Reports
Scientific Reports
In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001 to 10/20
Publikováno v:
J Am Acad Dermatol
Background Proteus syndrome is an overgrowth disorder caused by a mosaic activating AKT1 variant. Hair abnormalities in Proteus syndrome have rarely been reported, and frequencies of such findings have not been elucidated. Objective To define the typ
Autor:
Eduardo Ríos, Elena Zvaritch, Carlos A. Ibarra Moreno, Leslie G. Biesecker, Lourdes Figueroa, Philip M. Hopkins, Filip Van Petegem, Natalia Kraeva, Sheila Riazi
Publikováno v:
Br J Anaesth
Background Malignant hyperthermia (MH) susceptibility is an inherited condition, diagnosed either by the presence of a pathogenic genetic variant or by in vitro caffeine–halothane contracture testing. Through a multi-dimensional approach, we descri
Autor:
Julián Nevado, Jair Tenorio, Leslie G. Biesecker, Nancy B. Spinner, Antonio Torrelo, Víctor L. Ruiz Pérez, Lara Rodriguez-Laguna, Rudolf Happle, Marta Feito, Victor Martinez-Glez, Pablo Lapunzina, Gema Gordo, Luis A. Pérez-Jurado, Raúl de Lucas
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg. Genetic variation among the cell lines can involve whole chromosomes, structural or copy-number variants,
Autor:
Leslie G. Biesecker
Publikováno v:
Cassidy and Allanson's Management of Genetic Syndromes. :707-716
Autor:
Kathryn M. Stowell, Leslie G. Biesecker, James L. Weber, Robert T. Dirksen, Philip M. Hopkins, Sheila Riazi, Thierry Girard, Henry Rosenberg
Publikováno v:
Anesthesiology
Malignant Hyperthermia(MH) was described 60 years ago and our understanding of the clinical and pathophysiologic features of this syndrome continue to advance. MH is attributed to a genetically determined susceptibility to an abnormal skeletal muscle
Autor:
Richard Quinton, Brooke Meader, Katie L. Lewis, Janet E. Hall, Corrine K. Welt, Joan E. Bailey-Wilson, Leslie G. Biesecker, Alessandro Albano, Christopher A. Lavender, Natalie Shaw, Angela Delaney, Verónica Mericq, Paulina M. Merino, Stephanie B. Seminara, Adam B. Burkholder, Lacey Plummer, Kathryn A. Martin
Publikováno v:
J Clin Endocrinol Metab
Context Functional hypothalamic amenorrhea (HA) is a common, acquired form of hypogonadotropic hypogonadism that occurs in the setting of energy deficits and/or stress. Variability in individual susceptibility to these stressors, HA heritability, and