Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Anne Moreau De Bellaing"'
Autor:
Jean-François Hak, MD, Anne Moreau de Bellaing, MD, Grégoire Boulouis, MD, Charles-Joris Roux, MD, Basile Kerleroux, MD, Damien Bonnet, MD, PhD, Lucile Houyel, MD, Olivier Raisky, MD, PhD, Manoelle Kossorotoff, MD, Olivier Naggara, MD, PhD
Publikováno v:
JACC: Case Reports, Vol 3, Iss 4, Pp 686-689 (2021)
Although the left ventricular assist device is an important bridge to heart transplantation for patients with end-stage heart failure, it can also be a source of embolic stroke. We present a case of late intracranial mechanical thrombectomy performed
Externí odkaz:
https://doaj.org/article/84d037b3f6aa4e34aa74379e1aa7acb5
Autor:
Polakit Teekakirikul, Wenjuan Zhu, George C. Gabriel, Cullen B. Young, Kylia Williams, Lisa J. Martin, Jennifer C. Hill, Tara Richards, Marie Billaud, Julie A. Phillippi, Jianbin Wang, Yijen Wu, Tuantuan Tan, William Devine, Jiuann-huey Lin, Abha S. Bais, Jonathan Klonowski, Anne Moreau de Bellaing, Ankur Saini, Michael X. Wang, Leonid Emerel, Nathan Salamacha, Samuel K. Wyman, Carrie Lee, Hung Sing Li, Anastasia Miron, Jingyu Zhang, Jianhua Xing, Dennis M. McNamara, Erik Fung, Paul Kirshbom, William Mahle, Lazaros K. Kochilas, Yihua He, Vidu Garg, Peter White, Kim L. McBride, D. Woodrow Benson, Thomas G. Gleason, Seema Mital, Cecilia W. Lo
Publikováno v:
HGG Advances, Vol 2, Iss 3, Pp 100037- (2021)
Summary: Bicuspid aortic valve (BAV) with ∼1%–2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to ra
Externí odkaz:
https://doaj.org/article/0b7019f7bd454037bec2471ea5feef8c
Autor:
Ba Luu Truong, Anne Moreau De Bellaing, Emmanuelle Vialle, Ayman Haydar, Pascal Vouhe, Pierre Simon Jouk, Gerard Blaysat
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Aorto-left ventricular tunnel (ALVT) is a rare congenital heart defect. Surgery has to be performed early to avoid life-threatening complications. Prenatal diagnosis of this defect is challenging. We report a case of ALVT diagnosed in a fetus showing
Externí odkaz:
https://doaj.org/article/3e8d7410d6b04ea69aa4bd9857c083d2
Publikováno v:
Cardiology in the Young. 31:1193-1196
Extensive screening in a newborn with prenatal suspicion of VACTERL syndrome identified an anomalous origin of the left pulmonary artery from the descending aorta with an arterial duct and left aortic arch, and normal intra-cardiac anatomy. Other ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81150f33da9477ae4f88f1dee52c252
https://doi.org/10.1017/s1047951121002183
https://doi.org/10.1017/s1047951121002183
Autor:
Charles-Joris Roux, Basile Kerleroux, Anne Moreau de Bellaing, Olivier Naggara, Jean-François Hak, Manoelle Kossorotoff, Lucile Houyel, Olivier Raisky, Gregoire Boulouis, Damien Bonnet
Publikováno v:
JACC Case Reports
JACC: Case Reports, Vol 3, Iss 4, Pp 686-689 (2021)
JACC: Case Reports, Vol 3, Iss 4, Pp 686-689 (2021)
Although the left ventricular assist device is an important bridge to heart transplantation for patients with end-stage heart failure, it can also be a source of embolic stroke. We present a case of late intracranial mechanical thrombectomy performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80c01435bfef5cfa465d724bd12ae225
http://europepmc.org/articles/PMC8302778
http://europepmc.org/articles/PMC8302778
Autor:
Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, Anne Moreau de Bellaing, Wei Xuan Goh, Yan Ling Chong, Anja Beckers, Darshini Kannesan, Guillaume Louvel, Priyanka Anujan, Vydianathan Ravi, Carine Bonnard, Sébastien Moutton, Patric Schoen, Mélanie Fradin, Estelle Colin, André Megarbane, Linda Daou, Ghassan Chehab, Sylvie Di Filippo, Caroline Rooryck, Jean-François Deleuze, Anne Boland, Nicolas Arribard, Rukiye Eker, Sumanty Tohari, Alvin Yu-Jin Ng, Marlène Rio, Chun Teck Lim, Birgit Eisenhaber, Frank Eisenhaber, Byrappa Venkatesh, Jeanne Amiel, Hugues Roest Crollius, Christopher T. Gordon, Achim Gossler, Sudipto Roy, Tania Attie-Bitach, Martin Blum, Patrice Bouvagnet, Bruno Reversade
Publikováno v:
Nature genetics, 54(1), 62-72. Nature Publishing Group
Nature Genetics
Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩
Nature Genetics
Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩
Erratum in Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b44d805be19956b17466e0cc898449
https://pure.amc.nl/en/publications/discovery-of-a-genetic-module-essential-for-assigning-leftright-asymmetry-in-humans-and-ancestral-vertebrates(77a97734-296e-4e94-ba7b-51dce328a861).html
https://pure.amc.nl/en/publications/discovery-of-a-genetic-module-essential-for-assigning-leftright-asymmetry-in-humans-and-ancestral-vertebrates(77a97734-296e-4e94-ba7b-51dce328a861).html
Autor:
William T. Mahle, D. Woodrow Benson, Paul M. Kirshbom, Dennis M. McNamara, Nathan Salamacha, William A. Devine, Anne Moreau de Bellaing, Julie A. Phillippi, Thomas G. Gleason, Michael X. Wang, George C. Gabriel, Vidu Garg, Carrie Lee, Anastasia Miron, Wenjuan Zhu, Yijen L. Wu, Lazaros Kochilas, Cullen B. Young, Tuantuan Tan, Yihua He, Abha S. Bais, Jianhua Xing, Jonathan Klonowski, Hung Sing Li, Jianbin Wang, Peter White, Marie Billaud, Polakit Teekakirikul, Jingyu Zhang, Kylia Williams, Jiuann-huey Lin, Seema Mital, Leonid Emerel, Samuel K. Wyman, Tara D. Richards, Ankur Saini, Cecilia W. Lo, Erik Fung, Kim L. McBride, Jennifer C. Hill, Lisa J. Martin
Publikováno v:
HGG advances
HGG Advances, Vol 2, Iss 3, Pp 100037-(2021)
HGG Advances, Vol 2, Iss 3, Pp 100037-(2021)
Summary Bicuspid aortic valve (BAV) with ∼1%–2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to rar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8e8b5745ccd92d4b0433017b6509ad5
https://pubmed.ncbi.nlm.nih.gov/34888534
https://pubmed.ncbi.nlm.nih.gov/34888534
Autor:
Charlotte V. Y. Knowles, Anil Kanthi, Carolyn Tysoe, Georgia Spentzou, Claire L. S. Turner, Jan A Till, Liza K. Phillips, Anne Moreau de Bellaing, Diptendu Chatterjee, Alexandre Janin, Paul French, Tamara T. Koopmann, Anju Shukla, Melanie T. Achleitner, Loïc de Pontual, Matthew S. Edwards, Deborah J. Morris-Rosendahl, Noha Elserafy, Kirti Mittal, Jessie Cameron, Wendy K. Chung, Saskia B. Wortmann, Sajel L Kana, Kit Doudney, Robert G. Weintraub, Peter M George, Priyanka Ahimaz, Kyla Dunn, Ona Faye-Petersen, Katta M. Girisha, Hannah L. Kennedy, Kate S Lichkus, Alexa Kidd, Sumith Parikh, Jason D. Merker, Megan E. Grove, Ruth McGowan, Laura Brett, Anna C.E. Hurst, Jeanne Amiel, Bindu Parayil Sankaran, Dianna G. Fisk, Clémantine Dimartino, Charlotte L. Alston, Michelle L. Thompson, Johannes A. Mayr, Tessa Homfray, Alan Ma, Robert McFarland, Muhammad A Rafiq, Anne Guimier, Robert M Hamilton, Christian Turner, Karen McLeod, Christopher T. Gordon, Robert W. Taylor, David R. Thorburn, Florence van den Broek, Carolyn Ellaway, Fanny Bajolle
Publikováno v:
Genetics in Medicine, 23, 2415-2425
Genetics in Medicine, 23(12), 2415-2425. SPRINGERNATURE
Genetics in Medicine, 23, 12, pp. 2415-2425
Genetics in Medicine
Genetics in Medicine, 23(12), 2415-2425. SPRINGERNATURE
Genetics in Medicine, 23, 12, pp. 2415-2425
Genetics in Medicine
Purpose Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b33a647ce6ed7623f3dcf7ef17e6291
https://hdl.handle.net/1887/3250866
https://hdl.handle.net/1887/3250866
Autor:
Polakit, Teekakirikul, Wenjuan, Zhu, Xinxiu, Xu, Cullen B, Young, Tuantuan, Tan, Amanda M, Smith, Chengdong, Wang, Kevin A, Peterson, George C, Gabriel, Sebastian, Ho, Yi, Sheng, Anne, Moreau de Bellaing, Daniel A, Sonnenberg, Jiuann-Huey, Lin, Elisavet, Fotiou, Gennadiy, Tenin, Michael X, Wang, Yijen L, Wu, Timothy, Feinstein, William, Devine, Honglan, Gou, Abha S, Bais, Benjamin J, Glennon, Maliha, Zahid, Timothy C, Wong, Ferhaan, Ahmad, Michael J, Rynkiewicz, William J, Lehman, Bernard, Keavney, Tero-Pekka, Alastalo, Mary-Louise, Freckmann, Kyle, Orwig, Steve, Murray, Stephanie M, Ware, Hui, Zhao, Brian, Feingold, Cecilia W, Lo
Publikováno v:
Cell reports. Medicine. 3(2)
Analysis of large-scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals. Here, we report the unexpected recovery of a rare dominant lethal mutation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66a96a8f6f4f6f088b38eefad46ca14e
https://pubmed.ncbi.nlm.nih.gov/35243414
https://pubmed.ncbi.nlm.nih.gov/35243414
Autor:
Gennadiy Tenin, Sebastian Ho, Amanda M. Smith, Abha S. Bais, Xinxiu Xu, Yi Sheng, Tuantuan Tan, William Lehman, Brian Feingold, Kevin A. Peterson, Stephanie M. Ware, Mary-Louise Freckmann, Steve Murray, Anne Moreau de Bellaing, George C. Gabriel, Kyle E. Orwig, Hui Zhao, Ferhaan Ahmad, Cecilia W. Lo, Tero-Pekka Alastalo, Michael J. Rynkiewicz, Elisavet Fotiou, Wenjuan Zhu, Cullen B. Young, Chengdong Wang, Maliha Zahid, Daniel Sonnenberg, Timothy N. Feinstein, Polakit Teekakirikul, Jiuanne-huey Lin, Yijen L. Wu, Timothy C. Wong, Honglan Gou, William A. Devine, Bernard Keavney, Michael X. Wang
Publikováno v:
SSRN Electronic Journal.
Analysis of large scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals. Here we report the unexpected recovery of a rare dominant lethal mutation in TPM1, a sarcomeric actin-binding protein,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a464f780005944c110f13b4ab85d6aa
https://doi.org/10.2139/ssrn.3858980
https://doi.org/10.2139/ssrn.3858980