Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Catherine, McCuaig"'
Publikováno v:
SAGE Open Medical Case Reports, Vol 10 (2022)
A 39 weeks newborn baby was born with blueberry muffin macules and papules on her back. Skin biopsy was performed and showed extramedullary hematopoiesis. The mother who was infected by COVID-19 infection at 35 weeks of pregnancy did not have any oth
Externí odkaz:
https://doaj.org/article/bfa396160a07453ab3c0dc2cca77391c
Autor:
Yassaman Alipour Tehrany, MD, Louis Marois, MD, Caroline Colmant, MD, Valérie Marchand, MD, Victor Kokta, MD, Jérôme Coulombe, MD, Danielle Marcoux, MD, Elie Haddad, MD, PhD, Catherine McCuaig, MD
Publikováno v:
JAAD Case Reports, Vol 8, Iss , Pp 9-12 (2021)
Externí odkaz:
https://doaj.org/article/f4b8bd4e3b66490380b735f05ba820ee
Autor:
Mbarka Bchetnia, Laurie Martineau, Véronique Racine, Julie Powell, Catherine McCuaig, Charles Morin, Audrey Dupérée, François Gros-Louis, Catherine Laprise
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102750- (2022)
More than 107 pathogenic variations were identified in Keratin 14 gene (KRT14) in patients affected by epidermolysis bullosa simplex (EBS), a rare skin disease with still no curative treatment. Disease models as human induced pluripotent stem cells (
Externí odkaz:
https://doaj.org/article/5398e96ab0f04793aa0a5935432bba12
Autor:
Mbarka Bchetnia, Laurie Martineau, Véronique Racine, Julie Powell, Catherine McCuaig, Charles Morin, Audrey Dupérée, François Gros-Louis, Catherine Laprise
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102726- (2022)
Heterozygous mutations within Keratin 5 (KRT5) are common genetic causes of epidermolysis bullosa simplex (EBS), a skin fragility disorder characterized by blisters, which appear after minor trauma. Using CytoTune®Sendai virus, we generated three hu
Externí odkaz:
https://doaj.org/article/3b9f4d29cb264105bd7d113e222b0ad3
Autor:
Mbarka Bchetnia, Laurie Martineau, Véronique Racine, Julie Powell, Catherine McCuaig, Jack Puymirat, Catherine Laprise
Publikováno v:
Stem Cell Research, Vol 44, Iss , Pp - (2020)
We have generated UQACi001-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a male patient with the generalized severe epidermolysis bullosa simplex phenotype (EBS-gen sev) and carrying the keratin 14 (K14) R125S mu
Externí odkaz:
https://doaj.org/article/4966ddda25c440a785eed9e36f0fa279
Autor:
Caroline Colmant, Sophie Turpin, Raymond Lambert, Nicole Wong, Sandra Ondrejchak, Chantal Lapointe, Julie Powell, Josée Dubois, Catherine McCuaig
Publikováno v:
Journal of Cutaneous Medicine and Surgery. 26:502-511
Background Lymphedema is due to dysfunction of the lymphatic system. It can be primary or secondary. Pediatric lymphedema is more often primary and is a chronic disease with a heavy burden on quality of life. Methods Medical records of patients under
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7df7013a62543bdc58025140bd0f1b
https://doi.org/10.1177/12034754221112002
https://doi.org/10.1177/12034754221112002
Autor:
Laura E. Levin, Catherine McCuaig, Anne W. Lucky, Kimberly D. Morel, Lawrence A. Schachner, Amy Huang, Harper N. Price, Irene Lara-Corrales, Moise L. Levy, Karen Wiss, Elena Pope, Phuong Khuu, Laura Kaplan, Jean Y. Tang, Kristen P. Hook, Amy S. Paller, Leslie Castelo-Soccio, Tor Shwayder, Kathleen Peoples, Marla N. Jahnke, Julie Powell, Susan J. Bayliss, Sharon A. Glick, John Browning, Gregory S. Phillips, Lawrence F. Eichenfield, Anna L. Bruckner, Bret D. Augsburger
Publikováno v:
Journal of the American Academy of Dermatology. 86:1063-1071
BACKGROUND Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling. OBJECTIVE To describe diagnostic testing patterns and assess diagnostic concordance of transmission electron m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152917a3698a8d71d158d6510e77e93a
https://doi.org/10.1016/j.jaad.2021.09.065
https://doi.org/10.1016/j.jaad.2021.09.065
Publikováno v:
Pediatric Dermatology. 39:281-287
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce09f89e25b3b5fb65f3d5c23556b3cb
https://doi.org/10.1111/pde.14923
https://doi.org/10.1111/pde.14923
Publikováno v:
JAAD Case Reports
JAAD Case Reports, Vol 17, Iss, Pp 21-27 (2021)
JAAD Case Reports, Vol 17, Iss, Pp 21-27 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485deaccddcade10c7d512c400c3eeec
http://europepmc.org/articles/PMC8502715
http://europepmc.org/articles/PMC8502715
Autor:
Simon Marcoux, Sandrine Essouri, Jérôme Coulombe, Niina Kleiber, Josée Dubois, Catherine McCuaig, Laurence Gariépy-Assal, Julie Powell
Publikováno v:
Paediatrics & Child Health. 26:e53-e55
Primary Subject area Clinical Pharmacology and Toxicology Background Vascular anomalies (VA) represent a heterogeneous group of disorders associated with an abnormal development and proliferation of blood and/or lymphatic vessels displaying variable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09a16182d5a8d1dc94b5260397912e87
https://doi.org/10.1093/pch/pxab061.058
https://doi.org/10.1093/pch/pxab061.058