Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Maria-Daniela D'Agostino"'
Autor:
Pouneh Amir Yazdani, Marie-Lou St-Jean, Sara Matovic, Aaron Spahr, Luan T. Tran, Renée-Myriam Boucher, Chantal Poulin, Bradley Osterman, Myriam Srour, Bernard Rosenblatt, Sébastien Chénier, Jean-Francois Soucy, Anne-Marie Laberge, Maria Daniela D’Agostino, Cam-Tu Emilie Nguyen, Maxime Morsa, Geneviève Bernard
Publikováno v:
Journal of Child Neurology. :088307382311766
Parents of children with genetically determined leukoencephalopathies play a major role in their children's health care. We sought to gain a better understanding of their experience with the public health care system in Quebec, Canada, to obtain sugg
Publikováno v:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Jun2023, Vol. 193 Issue 2, p167-171, 5p
Autor:
Jessica R.C. Priestley, Ashish R. Deshwar, Harsha Murthy, Maria Daniela D’Agostino, Lucie Dupuis, Balram Gangaram, Christopher Gray, Rebekah Jobling, Emanuela Pannia, Konrad Platzer, Katrina Prescott, Melody Redman, Alyssa L. Rippert, Jill A. Rosenfeld, Daryl A. Scott, Yi Wen Wang, Zelia Schmederer, Ashwin Dalal, Asodu Sandeep Sarma, Cara Skraban, James.J. Dowling, Roberto Mendoza-Londono, Anne Slavotinek, Elizabeth J. Bhoj
Publikováno v:
Genetics in Medicine. :100863
Autor:
Gonçalo R. Abecasis, Yu Wang, Alexander Katz, Anne-Marie Laberge, Julie Richer, Michael R. Mathis, James C. Stanley, Hannah Hill, Santhi K. Ganesh, Kristina L. Hunker, Ingrid L. Bergin, Jamie Lane, Natalia Fendrikova-Mahlay, Guillaume Sillon, Thais Coutinho, Matthew Zawistowski, Maria-Daniela D’Agostino, Chad M. Brummett, Min-Lee Yang, Prasad Jetty, Stephen E. Ryan, Jun Li, François-Pierre Mongeon, Dawn M. Coleman, Heather L. Gornik, Jonathan L. Eliason, Stanley L. Hazen, Susan Blackburn
Publikováno v:
Arteriosclerosis, Thrombosis, and Vascular Biology. 40:2686-2699
Objective: While rare variants in the COL5A1 gene have been associated with classical Ehlers-Danlos syndrome and rarely with arterial dissections, recurrent variants in COL5A1 underlying a systemic arteriopathy have not been described. Monogenic form
Autor:
Pouneh Amir Yazdani, Marie-Lou St-Jean, Sara Matovic, Aaron Spahr, Luan T. Tran, Renée-Myriam Boucher, Chantal Poulin, Bradley Osterman, Myriam Srour, Bernard Rosenblatt, Sébastien Chenier, Jean-Francois Soucy, Anne-Marie Laberge, Nancy Braverman, Maria Daniela D’Agostino, Cam-Tu Emilie Nguyen, Maxime Morsa, Geneviève Bernard
Publikováno v:
Journal of child neurology. 37(4)
Parents of children with genetically determined leukoencephalopathies play a major role in their children's health care. Because of the COVID-19 pandemic, many health care services were suspended, delayed or delivered remotely with telemedicine. We s
Autor:
Jeremy Schwartzentruber, Kether Guerrero, Jacek Majewski, Isabelle Thiffault, Maria Daniela D'Agostino, Geneviève Bernard, Andrea Accogli, Sébastien Chénier, Cécile Cieuta-Walti, Luan Tran
Publikováno v:
Journal of Child Neurology. 34:74-80
AIMP1/p43, is a noncatalytic component of the mammalian multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their cognate tRNAs. AIMP1 is largely expressed in the central nervous system, where it is part of the regulatory mach
Autor:
Julie, Richer, Hannah L, Hill, Yu, Wang, Min-Lee, Yang, Kristina L, Hunker, Jamie, Lane, Susan, Blackburn, Dawn M, Coleman, Jonathan, Eliason, Guillaume, Sillon, Maria-Daniela, D'Agostino, Prasad, Jetty, François-Pierre, Mongeon, Anne-Marie, Laberge, Stephen E, Ryan, Natalia, Fendrikova-Mahlay, Thais, Coutinho, Michael R, Mathis, Matthew, Zawistowski, Stanley L, Hazen, Alexander E, Katz, Heather L, Gornik, Chad M, Brummett, Goncalo, Abecasis, Ingrid L, Bergin, James C, Stanley, Jun Z, Li, Santhi K, Ganesh
Publikováno v:
Arterioscler Thromb Vasc Biol
OBJECTIVE: While rare variants in the COL5A1 gene have been associated with classical Ehlers-Danlos Syndrome (EDS) and rarely with arterial dissections, recurrent variants in COL5A1 underlying a systemic arteriopathy have not been described. Monogeni
Autor:
Maria Daniela D'Agostino, Louis R. Bégin, Nancy Hamel, Simon Tanguay, Somayyeh Fahiminiya, Ismaël Bah, William D. Foulkes
Publikováno v:
The Journal of Pathology: Clinical Research. 4:167-174
We report an atypical tuberous sclerosis complex (TSC) phenotype presenting as familial multiple renal cell carcinomas (RCCs) with (angio)leiomyomatous stroma (RCCLS) (5/7 familial RCCs) on a background of multiple angiomyolipomas, hypopigmented skin
Publikováno v:
Endocrine Journal. 65:1139-1146
Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder caused by inactivating mutations of the NR3C1 gene which encodes the glucocorticoid receptor. The phenotypic spectrum is broad but typically include symptoms of adrenal insufficiency
Publikováno v:
Translational Science of Rare Diseases
Peroxisome biogenesis disorders (PBD) are a group of conditions caused by a partial or generalized defect in peroxisome biogenesis. They encompass two phenotypic groups: 1. the Zellweger spectrum disorders (ZSD) including severe, intermediate and mil