Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Trudy McKanna"'
Autor:
Michal Mrug, Michelle S. Bloom, Christine Seto, Meenakshi Malhotra, Hossein Tabriziani, Philippe Gauthier, Vicki Sidlow, Trudy McKanna, Paul R. Billings
Publikováno v:
Kidney Medicine, Vol 3, Iss 6, Pp 1050-1056 (2021)
Rationale & Objective: The identification of pathogenic variants in genes associated with chronic kidney disease can provide patients and nephrologists with actionable information to guide diagnoses and therapeutic plans. However, many nephrologists
Externí odkaz:
https://doaj.org/article/f3c39481dd5241c6a546f2f423febeae
Autor:
Michelle S. Bloom, Philippe Gauthier, Meenakshi Malhotra, Michal Mrug, Vicki Sidlow, Christine Seto, Paul Billings, Hossein Tabriziani, Trudy McKanna
Publikováno v:
Kidney Medicine
Rationale & Objective The identification of pathogenic variants in genes associated with chronic kidney disease can provide patients and nephrologists with actionable information to guide diagnoses and therapeutic plans. However, many nephrologists d
Autor:
Anthony J. Bleyer, Maggie Westemeyer, Jing Xie, Michelle S. Bloom, Katya Brossart, Jason J. Eckel, Frederick Jones, Miklos Z. Molnar, Wayne Kotzker, Prince Anand, Stanislav Kmoch, Yuan Xue, Samuel Strom, Sumit Punj, Zachary P. Demko, Hossein Tabriziani, Paul R. Billings, Trudy McKanna
Publikováno v:
Am J Nephrol
Introduction: Chronic kidney disease (CKD) is a major public health issue in the USA. Identification of monogenic causes of CKD, which are present in ∼10% of adult cases, can impact prognosis and patient management. Broad gene panels can provide un
Autor:
Maggie Westemeyer, Jessica Chaperon, Philippe Gauthier, Jessica M. Coleman, Dinah Clark, Nina M. Wemmer, Trudy McKanna, Yan Bai
Publikováno v:
Am J Nephrol
Introduction: Recent literature highlights the clinical utility of genetic testing for patients with kidney disease. Genetic testing provides significant benefits for reproductive risk counseling, including the option of in vitro fertilization with p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d783a9d640b5de8c52920a9b043675
https://europepmc.org/articles/PMC8619921/
https://europepmc.org/articles/PMC8619921/
Autor:
Daniel H. Saltzman, K. LeChien, Peter Benn, Melissa Stosic, Allison M. Ryan, K. Gardiner, Stephanie Kareht, K. Marchand, Kimberly Martin, S. Krinshpun, A. McElheny, Trudy McKanna, C. Grabarits, M. Ali, M. Hsu
Publikováno v:
Ultrasound in Obstetrics & Gynecology
Objective To identify pregnancies at increased risk for trisomy 13, trisomy 18 or triploidy attributable to low fetal fraction (FF). Methods A FF‐based risk (FFBR) model was built using data from more than 165 000 singleton pregnancies referred for
Autor:
Sarah McCormick, Paul Billings, Lauren Beretich, Philippe Gauthier, Hossein Tabriziani, Trudy McKanna
Publikováno v:
Molecular Genetics and Metabolism. 132:S206-S207
Autor:
Yuan Xue, Jing Xie, Beth Jiorle, Fang Fang, Anna Katya Brossart, Trudy McKanna, Samuel P. Strom, Paul Billings, Sarah McCormick, Lauren Beretich
Publikováno v:
Molecular Genetics and Metabolism. 132:S248-S249
Publikováno v:
Journal of Genetic Counseling
Some women undergoing noninvasive prenatal testing (NIPT) do not receive an informative result due to low fetal fraction (FF). A proportion of these are at increased risk for fetal trisomy 13, 18, or triploidy, while others have no change from their
Autor:
Philippe Gauthier, Lauren Beretich, Hossein Tabriziani, Trudy McKanna, Paul Billings, Sarah McCormick
Publikováno v:
Molecular Genetics and Metabolism. 132:S134
Autor:
Lihadh Al-Gazali, Paul R. Mark, Tommaso Mazza, Sarah Brandenberger, Mala Isrie, Andrea Poretti, Ratna Puri, Hilde Van Esch, Alessia Micalizzi, Damir Musaev, Marta Romani, Philippe Moerman, Bart De Keersmaecker, Ichraf Kraoua, Stefano D'Arrigo, Hülya Kayserili, Susanne Roosing, Rasim Ozgur Rosti, Joseph G. Gleeson, Umut Altunoglu, Trudy McKanna, Enza Maria Valente, Eugen Boltshauser, Joachim Van Keirsbilck
Publikováno v:
Roosing, S, Romani, M, Isrie, M, Rosti, R O, Micalizzi, A, Musaev, D, Mazza, T, Al-gazali, L, Altunoglu, U, Boltshauser, E, D'Arrigo, S, Keersmaecker, B D, Kayserili, H, Brandenberger, S, Kraoua, I, Mark, P R, McKanna, T, Keirsbilck, J V, Moerman, P, Poretti, A, Puri, R, Esch, H V, Gleeson, J G & Valente, E M 2016, ' Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes ', Journal of Medical Genetics, vol. 53, no. 9, pp. 608-615 . https://doi.org/10.1136/jmedgenet-2016-103832
Journal of Medical Genetics, 53, 608-15
Journal of Medical Genetics
Journal of Medical Genetics, 53(9), 608-615. BMJ Publishing Group
Journal of Medical Genetics, 53, 9, pp. 608-15
Journal of Medical Genetics, 53, 608-15
Journal of Medical Genetics
Journal of Medical Genetics, 53(9), 608-615. BMJ Publishing Group
Journal of Medical Genetics, 53, 9, pp. 608-15
Background Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large nu