Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Cèlia, Badenas"'
Autor:
Courtney K Wallingford, Anastassia Demeshko, Asha Krishnankutty Krishnakripa, Darren J Smit, David L Duffy, Brigid Betz-Stablein, Annette Pflugfelder, Kasturee Jagirdar, Elizabeth Holland, Graham J Mann, Clare A Primiero, Tatiane Yanes, Josep Malvehy, Cèlia Badenas, Cristina Carrera, Paula Aguilera, Catherine M Olsen, Sarah V Ward, Nikolas K Haass, Richard A Sturm, Susana Puig, David C Whiteman, Matthew H Law, Anne E Cust, Miriam Potrony, H Peter Soyer, Aideen M McInerney-Leo
Publikováno v:
British Journal of Dermatology. 188:770-776
Background Population-wide screening for melanoma is not cost-effective, but genetic characterization could facilitate risk stratification and targeted screening. Common Melanocortin-1 receptor (MC1R) red hair colour (RHC) variants and Microphthalmia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3da7adb9aab03dc86db7f8c774c35ef1
https://doi.org/10.1093/bjd/ljad041
https://doi.org/10.1093/bjd/ljad041
Autor:
Montse Pauta, Cèlia Badenas, Laia Rodriguez-Revenga, Anna Soler, Maribel Grande, Joan Sabrià, Carmen Illanes, Virginia Borobio, Antoni Borrell
Publikováno v:
Frontiers in Genetics, Vol 11 (2021)
Objective: To explore the use of a new molecular work-up based on the stepwise use of Quantitative Fluorescence PCR (QF-PCR) extended to eight chromosomes and single nucleotide polymorphism array (SNP-array) in chorionic villi obtained by chorionic v
Externí odkaz:
https://doaj.org/article/c88551af06ab4401951e598e5fdc01a5
The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole
Autor:
Leticia Benítez, Montse Pauta, Cèlia Badenas, Irene Madrigal, Alfons Nadal, Edda Marimon, Antoni Borrell
Publikováno v:
Diagnostics, Vol 11, Iss 10, p 1811 (2021)
Objective: the aim of our study was to assess the contribution of quantitative fluorescent polymerase chain reaction (QF-PCR) and pathology studies in the diagnosis of diandric triploidies/partial hydatidiform moles. Methods: this study included all
Externí odkaz:
https://doaj.org/article/050ff952a19042888503edb8047f2623
Autor:
Susan Gitlin, Maelin da Silva, Eliana Feldberg, Marie Altmanová, Petr Ráb, Alexandre T. Dias, Diogo Cavalcanti Cabral-de-Mello, Amom M. Nascimento, Irene Madrigal, Maria do Mar Oom, Flavia Balbo Piazzon, Filomena Adega, Tatiane C. Mariguela, Roberta Lelis Dutra, Yo Niida, Michail Rovatsos, Marília M. Montenegro, Allison Anjos, Baptiste Carton, Ester Margarit, Leslie Domenici Kulikowski, Kim Labuschagne, Anne-Marie Dutrillaux, Masatsune Itoh, Antoinette Kotze, Helena J. Kjöllerström, Tyl H. Taylor, Lukáš Kratochvíl, Shiv D. Kale, Patricia Barbosa, Cassia Fernanda Yano, Roberto Ferreira Artoni, Satz Mengensatzproduktion, Darren K. Griffin, Rachel Sayuri Honjo, Lauren Johnson, Taís V.M.M. Costa, Evelin Aline Zanardo, Urarikha Kongprom, S. Katz, Gil M. Novo-Filho, Chong Ae Kim, Hitoshi Sato, Carlos Fernandes, Mamoru Ozaki, Gabriela C. Rocha, Cèlia Badenas, Andressa Paladini, Kanju Ikeno, Tariq Ezaz, Etsuko Takase, Druckerei Stückle, Kornsorn Srikulnath, Anna Soler, Luiz Antonio Carlos Bertollo, Virginia Borobio, Sebastian Maciak, Sudarath Baicharoen, Zuzana Majtánová, Yuriko Hirai, Jack L. Crain, Hirohisa Hirai, Lauriane Cacheux, Bernard Dutrillaux, Marcelo de Bello Cioffi, Oladele I. Jegede, Ezequiel Aguiar de Oliveira, Pawel Michalak, Martina Johnson Pokorná, Aurora Sánchez, Míriam Muñoz, Raquel Chaves, Sébastien Lavoué, Katarzyna Michalak, Raquel Matoso Silva
Publikováno v:
Cytogenetic and Genome Research. 149:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94b787617eac475c0cafc2b4c6b82ad4
https://doi.org/10.1159/000453296
https://doi.org/10.1159/000453296
Autor:
Lauriane Cacheux, Chong Ae Kim, Flavia Balbo Piazzon, Shiv D. Kale, Satz Mengensatzproduktion, Raquel Chaves, Aurora Sánchez, Gil M. Novo-Filho, Hitoshi Sato, Sébastien Lavoué, Bernard Dutrillaux, Sudarath Baicharoen, Katarzyna Michalak, Eliana Feldberg, Sebastian Maciak, Marcelo de Bello Cioffi, Gabriela C. Rocha, Yuriko Hirai, Míriam Muñoz, Amom M. Nascimento, Hirohisa Hirai, Raquel Matoso Silva, Anna Soler, Kanju Ikeno, Diogo Cavalcanti Cabral-de-Mello, Rachel Sayuri Honjo, Lukáš Kratochvíl, Marie Altmanová, Petr Ráb, Leslie Domenici Kulikowski, Kim Labuschagne, Jack L. Crain, Pawel Michalak, Zuzana Majtánová, Druckerei Stückle, Martina Johnson Pokorná, Ester Margarit, Helena J. Kjöllerström, Cassia Fernanda Yano, S. Katz, Luiz Antonio Carlos Bertollo, Virginia Borobio, Tariq Ezaz, Tyl H. Taylor, Baptiste Carton, Oladele I. Jegede, Maelin da Silva, Roberta Lelis Dutra, Etsuko Takase, Yo Niida, Marília M. Montenegro, Urarikha Kongprom, Ezequiel Aguiar de Oliveira, Masatsune Itoh, Alexandre T. Dias, Maria do Mar Oom, Michail Rovatsos, Lauren Johnson, Anne-Marie Dutrillaux, Kornsorn Srikulnath, Andressa Paladini, Susan Gitlin, Allison Anjos, Filomena Adega, Tatiane C. Mariguela, Taís V.M.M. Costa, Cèlia Badenas, Antoinette Kotze, Roberto Ferreira Artoni, Carlos Fernandes, Mamoru Ozaki, Darren K. Griffin, Evelin Aline Zanardo, Irene Madrigal, Patricia Barbosa
Publikováno v:
Cytogenetic and genome research. 149(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a451ba97e9f1336a3ece2f2e982fd32b
https://pubmed.ncbi.nlm.nih.gov/27694743
https://pubmed.ncbi.nlm.nih.gov/27694743
Publikováno v:
Medicina clinica. 136(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9932295f0a71b4fe920a8468fde567f7
https://pubmed.ncbi.nlm.nih.gov/19853263
https://pubmed.ncbi.nlm.nih.gov/19853263
Autor:
Anna, Soler, Aurora, Sánchez, Ana, Carrió, Cèlia, Badenas, Montserrat, Milà, Ester, Margarit, Antoni, Borrell
Publikováno v:
American journal of medical genetics. Part A. 134(3)
We report an unusual case of a familial complex chromosome rearrangement (CCR), ascertained through prenatal diagnosis. The fetus carried an apparently balanced CCR with a recombinant 3-segment chromosome derived from two paternal reciprocal transloc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2cc4d4de0a8302f8641ecc306a889e45
https://pubmed.ncbi.nlm.nih.gov/15732062
https://pubmed.ncbi.nlm.nih.gov/15732062
Publikováno v:
Prenatal diagnosis. 23(4)
We describe the finding of three cell lines involving different structural abnormalities of chromosome 8 detected in a prenatal diagnosis. Chorionic villi sampling (CVS) was performed on a pregnant woman because of advanced maternal age. Semidirect c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e9044595b8e7c3b7e3f6d1aad6297dee
https://pubmed.ncbi.nlm.nih.gov/12673638
https://pubmed.ncbi.nlm.nih.gov/12673638
Autor:
Miguel Angel Pujana, Anna Ruiz, Cèlia Badenas, Josep‐Anton Puig‐Butille, Marga Nadal, Mitchell Stark, Laia Gómez, Joan Valls, Xavier Solé, Pilar Hernández, Celia Cerrato, Irene Madrigal, Rafael de Cid, Helena Aguilar, Gabriel Capellá, Santiago Cal, Michael R. James, Graeme J. Walker, Josep Malvehy, Montserrat Milà
Publikováno v:
Genes, Chromosomes & Cancer; Feb2007, Vol. 46 Issue 2, p155-162, 8p