Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Agustina Lanoel"'
Autor:
Maria Fernanda Perez, Maria Eugenia de Torres, María Marta Buján, Agustina Lanoël, Andrea Bettina Cervini, Adrián Martín Pierini
Publikováno v:
Anais Brasileiros de Dermatologia, Vol 86, Iss 2, Pp 347-351 (2011)
El lupus eritematoso neonatal es una enfermedad poco frecuente, caracterizada clínica mente por alteraciones cutáneas semejantes al lupus subagudo o discoide y/o bloqueo cardíaco congénito. Generalmente, cuando los pacientes presentan manifestaci
Externí odkaz:
https://doaj.org/article/be189e4db02544558b7d6345202f2292
Autor:
Mariana Alvarez, Adriana Natalia Torres Huamani, Aurora Feliú, Agustina Lanoel, Andrea Bettina Cervini, María Josefina Sala
Publikováno v:
Pediatric Dermatology. 33:e235-e239
Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a rare disease characterized by congenital and progressive vascular lesions of the skin and gastrointestinal tract that may be associated with thrombocytopenia and possibly life-th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d3e8b99e0885b0e01753d7e679a4370
https://doi.org/10.1111/pde.12879
https://doi.org/10.1111/pde.12879
Autor:
Antonella Mendola, Anthony J. Penington, Maria R. Cordisco, Jaakko Kangas, Rosemarie Watson, Simon Holden, Maeve A. McAleer, Mika Kaakinen, Odile Enjolras, Julie Soblet, Anne Dompmartin, Christine Léauté-Labrèze, Laurence M. Boon, Paul N.M.A. Rieu, Miikka Vikkula, Steven J. Fishman, Carine J.M. van der Vleuten, John B. Mulliken, Mélanie Uebelhoer, Alan D. Irvine, Saskia M. Maas, Marjut Nätynki, Raphaël Helaers, Loshan Kangesu, Zerina Lokmic, Agustina Lanoel, S. Syed, Nisha Limaye, Lauri Eklund
Publikováno v:
Journal of Investigative Dermatology, 137, 1, pp. 207-216
Journal of Investigative Dermatology, 137, 207-216
Journal of investigative dermatology, 137(1), 207-216. Nature Publishing Group
Journal of Investigative Dermatology, 137, 207-216
Journal of investigative dermatology, 137(1), 207-216. Nature Publishing Group
Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c2a80916963f0188868a871e62bb01
https://doi.org/10.1016/j.jid.2016.07.034
https://doi.org/10.1016/j.jid.2016.07.034
Autor:
Lim Jiin Yin, Beth Martin, Mark J. Stephan, Mariana Aracena, Cynthia J. Curry, Inge Krägeloh-Mann, Karen W. Gripp, Koenraad Devriendt, Michael Painter, Livia Garavelli, William B. Dobyns, Rachel Straussberg, Agustina Lanoel, Marie-Claude Addor, Margaret L. McKinnon, Luigi Boccuto, John Graham, Katrina Tatton-Brown, James D. Reggin, Jay Shendure, Colin C. Pritchard, Charles E. Schwartz, Mary Ella M Pierpont, Ian A. Glass, Fiona Stewart, Sulagna C. Saitta, Angeline Hwei Meeng Lai, Evan A. Boyle, Erin Torti, Anne Goriely, Michael T. Gabbett, Melanie Napier, Nicole Martin, Melissa T. Carter, Lisa Worgan, Renzo Guerrini, Katta M. Girisha, Ghayda M. Mirzaa, Chitra Prasad, Rachael Bradshaw, Leah W. Burke, Martin Kircher, Hulya Kayserilli, Andrew E. Timms, Jane Juusola, Karen D. Tsuchiya, Catherine E. Keegan, Robert L. Conway, David Chitayat, Kaylee Park, Hilde Van Esch, Aditi Shah Parikh, Maria R. Cordisco, Valerio Conti, Sondhya Ghedia, Raoul C.M. Hennekam, Sarah Collins, Bridget C. O’Connor, Stephen R. Braddock, Carissa Olds
Publikováno v:
JCI insight, vol. 1, no. 9, pp. 18p.
JCI insight, 1(9). The American Society for Clinical Investigation
Paediatrics Publications
JCI Insight
JCI insight, 1(9). The American Society for Clinical Investigation
Paediatrics Publications
JCI Insight
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vasc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e277962199864ba9a67d6d7a87cffb7
https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29
https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29
Autor:
Gregg Lueder, Susan J. Bayliss, Maria Cordisco, Kelvin Yamada, George F. Van Hare, Victoria De La Fuente, Agustina Lanoel, David R. Berk, David Balzer
Publikováno v:
Pediatric Dermatology. 27:319-320
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e1b3c34f1400fcedb5397ce0f8e0200
https://doi.org/10.1111/j.1525-1470.2010.01125.x
https://doi.org/10.1111/j.1525-1470.2010.01125.x