Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Karen Y. Niederhoffer"'
Autor:
Apurba Mainali, Taryn Athey, Shalini Bahl, Clara Hung, Oana Caluseriu, Alicia Chan, Alison Eaton, Shailly Jain Ghai, Peter Kannu, Melissa MacPherson, Karen Y. Niederhoffer, Komudi Siriwardena, Saadet Mercimek‐Andrews
Publikováno v:
American Journal of Medical Genetics Part A. 191:510-517
Clinical exome sequencing (ES) is the most comprehensive genomic test to identify underlying genetic diseases in Canada. We performed this retrospective cohort study to investigate the diagnostic yield of clinical ES in adulthood. Inclusion criteria
Autor:
Paul Upton, Susan Richards, Angela Bates, Karen Y. Niederhoffer, Nicholas W. Morrell, Susan Christian
Publikováno v:
American Journal of Medical Genetics Part A. 191:228-233
Autor:
Rishav Sharma, Karen Y. Niederhoffer, Oana Caluseriu, Christy‐Lynn Cooke, Lisa K. Hornberger, Rose He, Luke Eckersley, Lily Lin, Michelle Rushfeldt, Angela McBrien
Publikováno v:
Prenatal Diagnosis. 42:260-266
Past studies of fetal tetralogy of fallot (ToF) have reported extra-cardiac anomalies (ECAs) in 17%-45%, genetic syndromes in as low as 20% and poor postnatal outcomes. This study sought to examine these factors in a contemporary cohort.A retrospecti
Autor:
Khalid Almunaikh, Michael Paul Kolinsky, Naveen S. Basappa, Scott A. North, Sunita Ghosh, Karen Y. Niederhoffer, Soufiane El Hallani
Publikováno v:
Journal of Clinical Oncology. 41:169-169
169 Background: DDR-a are prevalent in mPC pts. The clinical behaviour of these pts is not well defined. We sought to investigate how DDR-a affects prognosis and treatment outcomes in mPC pts. Methods: Eligible pts were age ≥18 with mPC who had und
Autor:
Karen Y Niederhoffer, Sebastien J. Hotte, Kim N. Chi, Steven Yip, Fred Saad, Alexander W. Wyatt, Michael Kolinsky, Zineb Hamilou, Edmond M Kwan
Publikováno v:
Can Urol Assoc J
Olaparib is the first Health Canada-approved agent in metastatic prostate cancer to use a companion diagnostic to identify alterations in BRCA1, BRCA2, or ATM. As olaparib is introduced, clinicians must learn to access and interpret germline and soma
Autor:
Xiao Fan, Donnielle Rome-Martin, Elizabeth Poole-Di Salvo, Gabriela Soares, Cynthia G. Keator, Cheryl Pan, Marcos Madruga-Garrido, Francesca Novara, Jennifer M. Bain, Lia Boyle, Steven A. Skinner, Karen Y. Niederhoffer, Richard Frye, Nicole M. LaMarca, Silke Hamp, Orrin Devinsky, Wendy K. Chung, Rachel Salazar, Sylvie Goldman, Alexis B.R. Maddocks, Angela Peron, Olivia Thornburg
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo expand the clinical phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals.MethodsParticipants were diagnosed with pathogenic or likely pathogenic variants in HNRNPH2 using American College of Medical Gene
Autor:
Michelle Rushfeldt, Oana Caluseriu, Rishav Sharma, Karen Y Niederhoffer, Lily Yun Lin, Lisa K. Hornberger, Timothy Colen, Rose He, Luke Eckersley, Angela McBrien
Publikováno v:
Circulation. 142
Introduction: Historically, prenatal detection of tetralogy of Fallot (ToF) was poor and around 60% had major extracardiac (ECA) or genetic anomalies. Recently, prenatal detection of ToF has improved, along with a wider range of genetic testing optio
Publikováno v:
Prenatal diagnosisREFERENCES. 41(1)
Objectives Agenesis of the ductus venosus (ADV) has been associated with additional anomalies in up to 83% of cases. We sought to investigate characteristics, co-morbidities and outcomes of ADV in the current era. We hypothesized that rates of cardia
Autor:
Karen Y. Niederhoffer, Patrice Eydoux, John B. Mawson, Gen Nishimura, Millan S. Patel, Somayyeh Fahiminiya, Loydie A. Jerome-Majewska
Publikováno v:
American Journal of Medical Genetics Part A. 170:2310-2321
Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb
Publikováno v:
Reviews in endocrinemetabolic disorders. 19(1)
Diabetes mellitus is a heterogeneous group of conditions defined by resultant chronic hyperglycemia. Given the increasing prevalence of diabetes mellitus and the increasing understanding of genetic etiologies, we present a broad review of rare geneti