Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Neus Martínez-Abadías"'
Autor:
Sergi Llambrich, Birger Tielemans, Ellen Saliën, Marta Atzori, Kaat Wouters, Vicky Van Bulck, Mark Platt, Laure Vanherp, Nuria Gallego Fernandez, Laura Grau de la Fuente, Harish Poptani, Lieve Verlinden, Uwe Himmelreich, Anca Croitor, Catia Attanasio, Zsuzsanna Callaerts-Vegh, Willy Gsell, Neus Martínez-Abadías, Greetje Vande Velde
Publikováno v:
eLife, Vol 12 (2024)
Down syndrome (DS) is characterized by skeletal and brain structural malformations, cognitive impairment, altered hippocampal metabolite concentration and gene expression imbalance. These alterations were usually investigated separately, and the pote
Externí odkaz:
https://doaj.org/article/d1bf3adbb5e949bbaf5fbc9292d9e0ff
Autor:
Luis M. Echeverry-Quiceno, Estephania Candelo, Eidith Gómez, Paula Solís, Diana Ramírez, Diana Ortiz, Alejandro González, Xavier Sevillano, Juan Carlos Cuéllar, Harry Pachajoa, Neus Martínez-Abadías
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse
Externí odkaz:
https://doaj.org/article/8eca076ffdee4f44b4f8e405851991cb
Autor:
Victoria Tallón-Walton, Meritxell Sánchez-Molins, Wenwen Hu, Neus Martínez-Abadías, Aroa Casado, María Cristina Manzanares-Céspedes
Publikováno v:
Diagnostics, Vol 14, Iss 7, p 769 (2024)
Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence,
Externí odkaz:
https://doaj.org/article/7f7259fa920e496ab6b49c01717f92e2
Autor:
Floriane Remy, Roman Hossein Khonsari, Maxime Taverne, Brigitte Fauroux, Sonia Khirani, Neus Martínez Abadías, Yann Heuzé
Publikováno v:
Bulletins et Mémoires de la Société d’Anthropologie de Paris, Vol 36 (2023)
Externí odkaz:
https://doaj.org/article/0ca591e1ce73409d8428c0df13dd2eca
Autor:
Noemí Hostalet, Rubèn Gonzàlez, Alejandro González, Xavier Sevillano, Erick J Canales-Rodríguez, Pilar Salgado-Pineda, Raymond Salvador, Edith Pomarol-Clotet, Neus Martínez-Abadías, Mar Fatjó-Vilas
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S101- (2023)
Externí odkaz:
https://doaj.org/article/8eaa86671d49466391d0597502d8e763
Autor:
John M. Starbuck, Sergi Llambrich, Rubèn Gonzàlez, Julia Albaigès, Anna Sarlé, Jens Wouters, Alejandro González, Xavier Sevillano, James Sharpe, Rafael De La Torre, Mara Dierssen, Greetje Vande Velde, Neus Martínez-Abadías
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Trisomy of human chromosome 21 (Down syndrome, DS) alters development of multiple organ systems, including the face and underlying skeleton. Besides causing stigmata, these facial dysmorphologies can impair vital functions such as hearing, b
Externí odkaz:
https://doaj.org/article/da08f0e1061a4569a2997947254eceb4
Autor:
Sergi Llambrich, Rubèn González, Julia Albaigès, Jens Wouters, Fopke Marain, Uwe Himmelreich, James Sharpe, Mara Dierssen, Willy Gsell, Neus Martínez-Abadías, Greetje Vande Velde
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
The brain and skeletal systems are intimately integrated during development through common molecular pathways. This is evidenced by genetic disorders where brain and skull dysmorphologies are associated. However, the mechanisms underlying neural and
Externí odkaz:
https://doaj.org/article/ac897a92e6074bfe8704f611e647b526
Publikováno v:
Frontiers in Computer Science, Vol 4 (2022)
Modern microscopy technologies allow imaging biological objects in 3D over a wide range of spatial and temporal scales, opening the way for a quantitative assessment of morphology. However, establishing a correspondence between objects to be compared
Externí odkaz:
https://doaj.org/article/1624cdebe0cf4cac9addabfc0832b783
Autor:
Neus Martínez-Abadías, Roger Mateu Estivill, Jaume Sastre Tomas, Susan Motch Perrine, Melissa Yoon, Alexandre Robert-Moreno, Jim Swoger, Lucia Russo, Kazuhiko Kawasaki, Joan Richtsmeier, James Sharpe
Publikováno v:
eLife, Vol 7 (2018)
The earliest developmental origins of dysmorphologies are poorly understood in many congenital diseases. They often remain elusive because the first signs of genetic misregulation may initiate as subtle changes in gene expression, which are hard to d
Externí odkaz:
https://doaj.org/article/ed731b9b6dc04990b5eba1aa420b8b17
Autor:
Luis Miguel Echeverry, Estephania Candelo, Eidith Gómez, Paula Solís, Diana Ramírez, Diana Ortiz, Alejandro González, Xavier Sevillano, Juan Carlos Cuéllar, Harry Pachajoa, Neus Martínez-Abadías
Up to 40% of genetic and rare disorders (RD) present facial dysmorphologies. Visual assessment of facial gestalt is commonly used for clinical diagnosis, health management and treatment monitoring. Quantitative approaches to facial phenotypes are mor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd9c9d670e85851adac4cb9c75c6e0c
https://doi.org/10.21203/rs.3.rs-2363873/v1
https://doi.org/10.21203/rs.3.rs-2363873/v1
