Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Alfons Nadal"'
Autor:
Carlos Pérez-Serrano, Álvaro Bartolomé, Núria Bargalló, Carmen Sebastià, Alfons Nadal, Olga Gómez, Laura Oleaga
Publikováno v:
Insights into Imaging, Vol 12, Iss 1, Pp 1-13 (2021)
Abstract Central nervous system (CNS) abnormalities cause approximately 32–37.7% of terminations of pregnancy (TOP). Autopsy is currently the gold standard for assessing dead foetuses and stillborn. However, it has limitations and is sometimes subj
Externí odkaz:
https://doaj.org/article/e100a9a57e814b0abeb50883eb861aba
Autor:
Ameth Hawkins-Villarreal, Ana L. Moreno-Espinosa, Raigam J. Martinez-Portilla, Karen Castillo, Nadine Hahner, Ayako Nakaki, Lucas Trigo, Olivier Picone, Nathalie Siauve, Francesc Figueras, Alfons Nadal, Elisenda Eixarch, Anna Goncé
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
ObjectiveTo assess fetal liver volume (FLV) by magnetic resonance imaging (MRI) in cytomegalovirus (CMV)-infected fetuses compared to a group of healthy fetuses.MethodMost infected cases were diagnosed by the evidence of ultrasound abnormalities duri
Externí odkaz:
https://doaj.org/article/6f4d699806a74d178eccbf4391fca0fa
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:
Clara Menendez, Paola Castillo, Miguel J Martínez, Dercio Jordao, Lucilia Lovane, Mamudo R Ismail, Carla Carrilho, Cesaltina Lorenzoni, Fabiola Fernandes, Tacilta Nhampossa, Juan Carlos Hurtado, Mireia Navarro, Isaac Casas, Paula Santos Ritchie, Sonia Bandeira, Sibone Mocumbi, Zara Jaze, Flora Mabota, Khátia Munguambe, Maria Maixenchs, Ariadna Sanz, Inacio Mandomando, Alfons Nadal, Anna Goncé, Carmen Muñoz-Almagro, Llorenç Quintó, Jordi Vila, Eusebio Macete, Pedro Alonso, Jaume Ordi, Quique Bassat
Publikováno v:
PLoS Medicine, Vol 14, Iss 6, p e1002318 (2017)
BackgroundOver 5 million stillbirths and neonatal deaths occur annually. Limited and imprecise information on the cause of these deaths hampers progress in achieving global health targets. Complete diagnostic autopsies (CDAs)-the gold standard for ca
Externí odkaz:
https://doaj.org/article/9f007b9c609d4db7911382eb672dab55
Autor:
Alfons Nadal, Antonio Cardesa
Publikováno v:
Zdravniški Vestnik, Vol 71, Iss 0 (2002)
We offer a general overview on tumour suppressor gene alterations identified in laryngeal squamous cell carcinoma. Addressing the retinoblastoma susceptibility gene inactivation by molecular genetic methods is a hard task due to its enormous size. Ho
Externí odkaz:
https://doaj.org/article/7476eee9f7724d7e9db8c619d863d507
Autor:
Miriam Potrony, Antoni Borrell, Narcís Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Karmele Saez de Gordoa Elizalde, Juan Francisco Quesada-Espinosa, Jose Luis Villanueva-Cañas, Montse Pauta, Meritxell Jodar, Irene Madrigal, Celia Badenas, Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f865a3df7d7ed2daec1921cda7964c
http://hdl.handle.net/2445/191265
http://hdl.handle.net/2445/191265
Autor:
Jessica Camacho, Itziar Garcia Ruíz, Santiago Ramón y Cajal, Berta Serrano, Paula Garcia-Aguilar, Marina Alguacil-Guillén, Fatima Crispi, Joan Carles Ferreres, Anna Moreno-Baró, Alexandra Navarro, Anna Suy, Marta Sesé, Javier Hernández-Losa, Alfons Nadal, Marta Garrido-Pontnou
Publikováno v:
Modern Pathology
Placental pathology in SARS-CoV-2-infected pregnancies seems rather unspecific. However, the identification of the placental lesions due to SARS-CoV-2 infection would be a significant advance in order to improve the management of these pregnancies an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48f58f6c85f18df80522b8fe2636add6
http://europepmc.org/articles/PMC8130566
http://europepmc.org/articles/PMC8130566
Autor:
Berta Campos, Alfons Nadal, Virginia Borobio Florián, Maria Segura Puimedon, Montse Pauta, Anna Vallmajó Fita, Rafael Oliva, Olga Gómez Del Rincón, Gerard Frigola, Antoni Borrell
Publikováno v:
Virchows Archiv. 479:413-418
Steel syndrome (STLS) encompasses characteristic facies, dwarfness, irreducible bilateral hip and radial head dislocation, and carpal bone coalition due to COL27A1 mutations. Two consecutive pregnancies in a non-consanguineous couple were terminated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::976b061a9cac96405305c02b2bf1de52
https://doi.org/10.1007/s00428-020-02979-2
https://doi.org/10.1007/s00428-020-02979-2
Autor:
Elisenda Eixarch, Alfons Nadal, E. Marimon, Begoña Muñoz, Montse Pauta, Berta Campos, Eva López-Quesada, Lourdes Martin, Gemma Arca, Montserrat Comas Rovira, Monica Lopez, Silvia Pina Perez, Antoni Borrell, Fernanda Paz Y. Miño, Olga Leticia Fuchs Gómez, Maria Segura-Puimedon, Virginia Borobio, Albert Tubau, Esperanza Garcia, Joan Sabrià
Publikováno v:
Fetal Diagnosis and Therapy. 48:746-756
Objective: The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and “solo” clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c18c733cf52f904a842e0310092ef7b1
https://doi.org/10.1159/000519701
https://doi.org/10.1159/000519701
Autor:
Carlota Rovira, Jaume Miranda-Rius, Daniel Cuadras, Núria Lorente-Colomé, Lluís Brunet-Llobet, R. Pascal, Jordi Moncunill-Mira, Alfons Nadal
Publikováno v:
Odontology. 109:455-463
In recent years, several studies have examined the possible relationship between periodontal disease in pregnant women and preterm birth. One of the difficulties facing these studies is the heterogeneity of the clinical criteria used to define period
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4ef8936c96c88d48921406fea6acfff
https://doi.org/10.1007/s10266-020-00562-4
https://doi.org/10.1007/s10266-020-00562-4