Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Jean McGowan-Jordan"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101269- (2024)
Externí odkaz:
https://doaj.org/article/a28bab11338740f791b9aa76982e8204
Autor:
Lynette Lau, Edward Higginbotham, Wilson Sung, Venuja Sriretnakumar, Meredith Curtis, Caitlin Chisholm, Meredith Gillespie, Anna Pan, Sean Kim, Sean Simko, E. Magda Price, Marianne Eliou, Anna Szuto, Michelle Axford, Martin Somerville, Kym Boycott, Jean McGowan-Jordan, Melaine Beaulieu Bergeron, James Stavropoulos, Lijia Huang, Christian Marshall
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101548- (2024)
Externí odkaz:
https://doaj.org/article/8fc9fec7563e4535ace9bbc1d04d8659
Autor:
Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions. Pathogenic variants in at least 16 cardiac sarcomeric genes have been implicated in
Externí odkaz:
https://doaj.org/article/7ffcffe8d1414239a7dc0d9166a761cd
Autor:
Alison M. R. Castle, Michele L. Ramien, Nordau Kanigsberg, Dina El Demellawy, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Christine M. Armour
Publikováno v:
Pediatric Dermatology. 39:107-111
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44411486c43d92697eac054e1e345840
https://doi.org/10.1111/pde.14850
https://doi.org/10.1111/pde.14850
Autor:
D Lahey, Gabrielle Mettler, Hussein Daoud, Nasim Vasli, Nathaniel Santos, Brittany Antoniuk, Caitlin Chisholm, Shelley Ordorica, Jean McGowan-Jordan, Vanessa Trudel, Amanda C. Smith, Olga Jarinova, Virginia Haslett, Heather Derksen, Mahdi Ghani, Landry Nfonsam, Robert Roberts, Ryan Potter, Martha McGill, Elizabeth Sinclair-Bourque
Publikováno v:
The Journal of Molecular Diagnostics. 21:437-448
Inherited cardiomyopathies (ICs) are a major cause of heart disease. Given their marked clinical and genetic heterogeneity, the content and clinical utility of IC multi-gene panels has been the topic of continuous debate. Our genetics diagnostic labo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2934c5610c09e608bdcf7acda91d8ddb
https://doi.org/10.1016/j.jmoldx.2019.01.004
https://doi.org/10.1016/j.jmoldx.2019.01.004
Autor:
Susan Conacher, Landry Nfonsam, Nancy Carson, Lijia Huang, Ryan Potter, Olga Jarinova, Sharan Goobie, Lee Benson, Stacy Hewson, Lucas Bronicki, Laura Zahavich, David McCarty, Melanie Beaulieu Bergeron, Amanda C. Smith, Jean McGowan-Jordan, Mahdi Ghani, Elizabeth Sinclair-Bourque
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions. Pathogenic variants in at least 16 cardiac sarcomeric genes have been implicated in HCM, mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a93fcbe54440fcb7d2caa130702907
https://doaj.org/article/7ffcffe8d1414239a7dc0d9166a761cd
https://doaj.org/article/7ffcffe8d1414239a7dc0d9166a761cd
Publikováno v:
Cancer Genetics. :100-104
Lipoma is a benign tumor, typically of adulthood, with characteristic cytogenetic findings, including rearrangement of 12q13-15; these rearrangements often lead to the fusion of the HMGA2 gene at this locus to the transcriptional regulatory domain of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d6af21c151cc15bc6358a043fc54cc
https://doi.org/10.1016/j.cancergen.2017.07.011
https://doi.org/10.1016/j.cancergen.2017.07.011
Publikováno v:
Pathology. 49:238-246
Rhabdomyosarcoma (RMS) is the most common malignant soft tissue tumour in children and adolescents. Histologically RMS resembles developing fetal striated skeletal muscle. RMS is stratified into different histological subtypes which appear to influen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1183f9e17001c3fb672b56a7cde1a81
https://doi.org/10.1016/j.pathol.2016.12.345
https://doi.org/10.1016/j.pathol.2016.12.345
Autor:
Jean McGowan-Jordan, Dina El Demellawy, James Lee, Ahmed Nasr, Laura M McDonell, Milton J. Finegold, Raj P. Kapur, David A. Dyment, Bo Ngan, A S Knisely
Publikováno v:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 22(4)
Hepatic mesenchymal hamartoma is a rare benign neoplasm principally encountered in young children. Its origin is unknown. We report an unusual hepatic mesenchymal hamartoma in a 7-month-old girl, including histopathologic findings, immunophenotype, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703fc7bb5541d6ca6a8d361aec77a490
https://pubmed.ncbi.nlm.nih.gov/30497332
https://pubmed.ncbi.nlm.nih.gov/30497332
Autor:
Dina J. Zand, Michael T. Geraghty, Bob Argiropoulos, Jean McGowan-Jordan, Xu Li, Taosheng Huang, Pranesh Chakraborty, Kelly L. Adams, Emily Chen, Matthew A. Lines, Sarah E. Grams, Patricia Himes, Leesa M. Linck, Marilyn Tsang, Marthand Eswara, Dana Kostiner, Heather J. Stalker, Daniel J. Driscoll, Jill A. Rosenfeld, Kamer Tezcan
Publikováno v:
American Journal of Medical Genetics Part A. 170:967-977
We report 13 new individuals with duplications in Xp11.22-p11.23. The index family has one male and two female members in three generations with mild-severe intellectual disability (ID), speech delay, dysmorphic features, early puberty, constipation,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29077bc0655578f7cb7af0bfaab5b7e
https://doi.org/10.1002/ajmg.a.37519
https://doi.org/10.1002/ajmg.a.37519