2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

Autor: Estephania Candelo, Sebastian Giraldo-Ocampo, Julian Nevado, Pablo Lapunzina, Harry Pachajoa

Publikováno v: BMC Pediatrics, Vol 24, Iss 1, Pp 1-12 (2024)

Abstract Background The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpeb

Externí odkaz: https://doaj.org/article/091d90f3fd75443a9802816d14013fc2

Worldwide distribution of genetic factors related to severity of COVID-19 infection

Autor: María Esther Esteban, Débora Pino, Alicia Romero-Lorca, Apolonia Novillo, María Gaibar, José A. Riancho, Augusto Rojas-Martínez, Carlos Flores, Pablo Lapunzina, Ángel Carracedo, Georgios Athanasiadis, Ana Fernández-Santander

Publikováno v: Annals of Human Biology, Vol 51, Iss 1 (2024)

Background Genome-wide association studies of COVID-19 severity have been carried out mostly on European or East Asian populations with small representation of other world regions. Here we explore the worldwide distribution and linkage disequilibrium

Externí odkaz: https://doaj.org/article/8d6900729a7d44d48c1ed521abb43444

Novel risk loci for COVID-19 hospitalization among admixed American populations

Autor: Silvia Diz-de Almeida, Raquel Cruz, Andre D Luchessi, José M Lorenzo-Salazar, Miguel López de Heredia, Inés Quintela, Rafaela González-Montelongo, Vivian Nogueira Silbiger, Marta Sevilla Porras, Jair Antonio Tenorio Castaño, Julian Nevado, Jose María Aguado, Carlos Aguilar, Sergio Aguilera-Albesa, Virginia Almadana, Berta Almoguera, Nuria Alvarez, Álvaro Andreu-Bernabeu, Eunate Arana-Arri, Celso Arango, María J Arranz, Maria-Jesus Artiga, Raúl C Baptista-Rosas, María Barreda- Sánchez, Moncef Belhassen-Garcia, Joao F Bezerra, Marcos AC Bezerra, Lucía Boix-Palop, María Brion, Ramón Brugada, Matilde Bustos, Enrique J Calderón, Cristina Carbonell, Luis Castano, Jose E Castelao, Rosa Conde-Vicente, M Lourdes Cordero-Lorenzana, Jose L Cortes-Sanchez, Marta Corton, M Teresa Darnaude, Alba De Martino-Rodríguez, Victor del Campo-Pérez, Aranzazu Diaz de Bustamante, Elena Domínguez-Garrido, Rocío Eirós, María Carmen Fariñas, María J Fernandez-Nestosa, Uxía Fernández-Robelo, Amanda Fernández-Rodríguez, Tania Fernández-Villa, Manuela Gago-Dominguez, Belén Gil-Fournier, Javier Gómez-Arrue, Beatriz González Álvarez, Fernan Gonzalez Bernaldo de Quirós, Anna González-Neira, Javier González-Peñas, Juan F Gutiérrez-Bautista, María José Herrero, Antonio Herrero-Gonzalez, María A Jimenez-Sousa, María Claudia Lattig, Anabel Liger Borja, Rosario Lopez-Rodriguez, Esther Mancebo, Caridad Martín-López, Vicente Martín, Oscar Martinez-Nieto, Iciar Martinez-Lopez, Michel F Martinez-Resendez, Angel Martinez-Perez, Juliana F Mazzeu, Eleuterio Merayo Macías, Pablo Minguez, Victor Moreno Cuerda, Silviene F Oliveira, Eva Ortega-Paino, Mara Parellada, Estela Paz-Artal, Ney PC Santos, Patricia Pérez-Matute, Patricia Perez, M Elena Pérez-Tomás, Teresa Perucho, Mellina Pinsach-Abuin, Guillermo Pita, Ericka N Pompa-Mera, Gloria L Porras-Hurtado, Aurora Pujol, Soraya Ramiro León, Salvador Resino, Marianne R Fernandes, Emilio Rodríguez-Ruiz, Fernando Rodriguez-Artalejo, José A Rodriguez-Garcia, Francisco Ruiz-Cabello, Javier Ruiz-Hornillos, Pablo Ryan, José Manuel Soria, Juan Carlos Souto, Eduardo Tamayo, Alvaro Tamayo-Velasco, Juan Carlos Taracido-Fernandez, Alejandro Teper, Lilian Torres-Tobar, Miguel Urioste, Juan Valencia-Ramos, Zuleima Yáñez, Ruth Zarate, Itziar de Rojas, Agustín Ruiz, Pascual Sánchez, Luis Miguel Real, SCOURGE Cohort Group, Encarna Guillen-Navarro, Carmen Ayuso, Esteban Parra, José A Riancho, Augusto Rojas-Martinez, Carlos Flores, Pablo Lapunzina, Ángel Carracedo

Publikováno v: eLife, Vol 13 (2024)

The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population-specific

Externí odkaz: https://doaj.org/article/011994bb968f4b9ab2fc855d5fdf6178

Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort

Autor: Samuel Sarmiento Doncel, Ronald Guillermo Peláez, Pablo Lapunzina, Fernando F. Corrales-Medina, Gina Alejandra Díaz Mosquera, Santiago Bonanad, Javier Mauricio Cortes, Mario Cazalla, Natalia Gallego, Felipe Querol-Giner, Jair Tenorio, José A. López Guerrero

Publikováno v: Life, Vol 14, Iss 8, p 1041 (2024)

Hemophilia A is an X-linked disorder characterized by quantitative deficiency of coagulation factor VIII (FVIII) caused by pathogenic variants in the factor 8 (F8) gene. Our study’s primary objective was to identify genetic variants within the exon

Externí odkaz: https://doaj.org/article/1934ca19d27c429ba8b3330c911b3fe8

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