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

Contents Vol. 149, 2016

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

Teri Lear, PhD (1951-2016)

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

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring

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

DNA Repair and Immune Response Pathways Are Deregulated in Melanocyte-Keratinocyte Co-cultures Derived From the Healthy Skin of Familial Melanoma Patients

Autor: Miriam Potrony, Tariq Sami Haddad, Gemma Tell-Martí, Pol Gimenez-Xavier, Carlos Leon, Marta Pevida, Judit Mateu, Celia Badenas, Cristina Carrera, Josep Malvehy, Paula Aguilera, Sara Llames, Maria José Escámez, Joan A. Puig-Butillé, Marcela del Río, Susana Puig

Publikováno v: Frontiers in Medicine, Vol 8 (2021)

Familial melanoma accounts for 10% of cases, being CDKN2A the main high-risk gene. However, the mechanisms underlying melanomagenesis in these cases remain poorly understood. Our aim was to analyze the transcriptome of melanocyte-keratinocyte co-cult

Externí odkaz: https://doaj.org/article/a850c7da79184016a1d494670bb72606