Prevention of Neural Tube Defects in Europe: A Public Health Failure

Autor: Joan K. Morris, Marie-Claude Addor, Elisa Ballardini, Ingeborg Barisic, Laia Barrachina-Bonet, Paula Braz, Clara Cavero-Carbonell, Elly Den Hond, Ester Garne, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Nathalie Lelong, Agnieszka Kinsner-Ovaskainen, Sonja Kiuru-Kuhlefelt, Kari Klungsoyr, Anna Latos-Bielenska, Elizabeth Limb, Mary T O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Gerardine Sayers, Antonin Sipek, Sarah Stevens, David Tucker, Christine Verellen-Dumoulin, Hermien E. K. de Walle, Diana Wellesley, Wladimir Wertelecki, Eva Bermejo-Sanchez

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Objective: Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending that women take 0.4 mg folic ac

Externí odkaz: https://doaj.org/article/57a0c1d9d13544888581528d0d4764a7

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Autor: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

Publikováno v: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)

Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi

Externí odkaz: https://doaj.org/article/47a113198d5649e88315ddec99f2067f

Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?

Autor: EVA BERMEJO-SANCHEZ, Javier González de Dios, Jacobo Mendioroz, Isolina Riaño-Galan

Publikováno v: American Journal of Medical Genetics Part A. :26-34

In a previous study on single umbilical artery (SUA) and its association with congenital defects, we observed a serendipitous association between isolated skin anomalies and the presence of SUA. Although this could be a spurious association, we consi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c01dcb4293b6485ac88e86eb0b3f75eb
https://doi.org/10.1002/ajmg.a.32050

[Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases]

Autor: Ml, Martínez-Frías, EVA BERMEJO-SANCHEZ, Félix V, Calvo Celada R, Ayala Garcés A, Hernández Ramón F

Publikováno v: Europe PubMed Central

Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental ret

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b0295b9330697d2879bc45963a9cdadb
https://pubmed.ncbi.nlm.nih.gov/9662850

[Children with limb reductions in a population of 25,193 malformed newborns: the recognized causes. ECEMC. The Spanish Collaborative Study of Congenital Malformations]

Autor: Ml, Martínez-Frías, EVA BERMEJO-SANCHEZ, Paisán L, Blanco M, Félix V, Egüés J, Hernández F, Martín M, Martínez S, Ayala A, Aparicio P, Rodríguez-Pinilla E

Publikováno v: Europe PubMed Central

The purposes of this study were to analyze the causes of limb reduction deficiencies based on a clinical-epidemiological approach and to study the causes by clinical presentation.We have used the data from the Spanish Collaborative Study of Congenita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3617aca9e21ad90b9fca0da75c16c1f4
https://pubmed.ncbi.nlm.nih.gov/9542226