Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Elizabeth Lemos Silveira-Lucas"'
Autor:
Aki Ushiki, Yichi Zhang, Chenling Xiong, Jingjing Zhao, Ilias Georgakopoulos-Soares, Lauren Kane, Kirsty Jamieson, Michael J. Bamshad, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Yin Shen, Laura A. Lettice, Elizabeth Lemos Silveira-Lucas, Florence Petit, Nadav Ahituv
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Acheiropodia is associated with homozygous deletions in the LMBR1 gene around ZRS, an enhancer regulating SHH during limb development, but how these deletions lead to this phenotype is unknown. Here the authors use whole-genome sequencing, ChIP-seq,
Externí odkaz:
https://doaj.org/article/a51ed5c656354529b724340b9d7c7580
Autor:
Yichi Zhang, Laura A. Lettice, Yin Shen, Elizabeth Lemos Silveira-Lucas, Aki Ushiki, Ilias Georgakopoulos-Soares, Michael J. Bamshad, Kirsty Jamieson, Florence Petit, Chenling Xiong, Jingjing Zhao, Nadav Ahituv, Lauren Kane, Deborah A. Nickerson
Publikováno v:
Nature communications, vol 12, iss 1
Nature Communications
Nature Communications, Nature Publishing Group, 2021, Nature Communications, 12 (1), pp.2282. ⟨10.1038/s41467-021-22470-z⟩
Nature Communications, 2021, Nature Communications, 12 (1), pp.2282. ⟨10.1038/s41467-021-22470-z⟩
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Nature Communications
Nature Communications, Nature Publishing Group, 2021, Nature Communications, 12 (1), pp.2282. ⟨10.1038/s41467-021-22470-z⟩
Nature Communications, 2021, Nature Communications, 12 (1), pp.2282. ⟨10.1038/s41467-021-22470-z⟩
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Acheiropodia, congenital limb truncation, is associated with homozygous deletions in the LMBR1 gene around ZRS, an enhancer regulating SHH during limb development. How these deletions lead to this phenotype is unknown. Using whole-genome sequencing,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28c2e9798adde0bba47d72fd4902e080
https://escholarship.org/uc/item/8dj183mb
https://escholarship.org/uc/item/8dj183mb
Autor:
Patrik Wernhoff, Sergio Chialina, María Luisa Guevara Gil, María Laura Gonzalez, Luis José Palacios Fuenmayor, Constantino Dominguez-Barrera, Ana Protzel, Leonardo S. Lino-Silva, Michael Vallejo, Francisco López-Köstner, Karin Alvarez, Celia Aparecida Marques Pimenta, Julio Sanchez del Monte, Nadia Cambados Héritas, Carlos Mario Muñetón Peña, Jorge Andres Rugeles Mindiola, Elizabeth Lemos Silveira-Lucas, Eivind Hovig, Luisina Inés Bruno, Carlos Reyes-Silva, Alicia Cock-Rada, Florencia Neffa, Thais F Bonfim Palma, Richard Quispe, Alcides Recalde, Gabriela Jaramillo-Koupermann, Fabiana Alejandra Ferro, Norma Teresa Rossi, Mev Dominguez-Valentin, Florencia Spirandelli, Edenir Inêz Palmero, John-Paul Plazzer, Tirzah Braz Petta-Lajus, Sandra Patricia Bello Uyaban, Adriana Della Valle, Pål Møller, Ivana Nascimento, Marina Antelo, Jose Buleje, Kiyoko Abe-Sandes, Alejandra Mampel, Ana Rafaela de Souza Timoteo, Enrique Spirandelli, Julyann Pérez-Mayoral, Mariano Golubicki, Yasser Sullcahuaman, Alfonso Suárez, Mariela Torres, Henrique de Campos Reis Galvão, Carlos Sarroca, Magdalena Echeverry, Carlos Afanador Ayala, Claudia Martin, Guiliana Chávez, Jesús Arturo Hernández-Sandoval, Angélica Hernandez Guerrero, Geiner Jimenez, Yeni Rodriguez, Cladelis Rubio, Tamara Alejandra Piñero, Marcia Cruz-Correa, Pablo Kalfayan, Benedito Mauro Rossi, Florencia Petracchi, María de la Luz Ayala-Madrigal, Yesilda Balavarca, Juan Carlos Bazo-Alvarez, Carlos A. Vaccaro, Mabel Bohorquez, Milagros Dueñas, Nora Manoukian Forones, Claudio Benavides Yañez
Publikováno v:
European journal of cancer (Oxford, England : 1990). 119
We aimed to assess the current genetics practice to manage patients with Lynch syndrome (LS) across Latin America. A Latin American LS survey was sent out to 52 centres/registries, comprising a total of 12 countries from the region. Overall, 33 centr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e288aad80099e1069fea7e6d4d5a63c6
https://pubmed.ncbi.nlm.nih.gov/31442815
https://pubmed.ncbi.nlm.nih.gov/31442815