Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia

Autor: María D. Lledín, Manuel Parrón-Pajares, Ana Morais, Francisco Hernández-Oliveros, Jose I. Botella-Carretero, Loreto Hierro

Publikováno v: Frontiers in Pediatrics, Vol 10 (2023)

BackgroundSarcopenia in adult cirrhotic patients is associated with increased morbidity and mortality whereas in children it is still being studied. Anthropometric variables in cirrhotic children are not reliable for assessing muscle mass as they may

Externí odkaz: https://doaj.org/article/a45557e6b368480f8ee54c1e3377107e

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Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

Autor: Marta Pacio‐Miguez, Manuel Parrón‐Pajares, Christopher T. Gordon, Fernando Santos‐Simarro, Carmen Rodríguez Jiménez, Rocio Mena, Inmaculada Rueda Arenas, Victoria Eugenia F. Montaño, María Fernández, Mario Solís, Ángela del Pozo, Jeanne Amiel, Sixto García‐Miñaur, María Palomares‐Bralo

Publikováno v: American Journal of Medical Genetics Part A. 188:2819-2824

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3acb808758b578b17f39fd98d2d207a
https://doi.org/10.1002/ajmg.a.62883

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

Autor: Silvia Modamio-Høybjør, Isabel González-Casado, Angel Campos-Barros, Francisca Díaz-González, José Antonio Bermúdez de la Vega, Fernando Santos-Simarro, Atilano Carcavilla, Ana C Barreda-Bonis, Carolina de la Torre, Purificación Ros-Pérez, Inés Mulero-Collantes, Sara Benito-Sanz, Angela del Pozo, Mario Solís, Jesús González de Buitrago Amigo, Julián Nevado, Lucia Sentchordi-Montané, André M. Travessa, Pablo Prieto, Miriam Aza-Carmona, Pilar Bahíllo-Curieses, Elena Vallespín, Jaime Cruz-Rojo, Manuel Parrón-Pajares, Joaquín Ramírez-Fernández, Karen E. Heath, Pablo Ruiz-Ocaña, Carlos Goetz, Carolina Bezanilla-López

Publikováno v: European Journal of Endocrinology. 185:691-705

Objective Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfa82ec02866d87f9d31b040bb8675c7
https://doi.org/10.1530/eje-21-0557

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Autor: Fernando Santos-Simarro, Aude Annick Suter, Uwe Kornak, Wiebke Hülsemann, Rosario Ramos-Mejia, Victoria Huckstadt, Angela Abad Perez, Stefan Mundlos, Pernille Mathiesen Toerring, Manuel Parrón-Pajares, Manuel Holtgrewe, Oliver Bartsch, Karen E. Heath, Nadja Ehmke, Martin A. Mensah

Publikováno v: American Journal of Medical Genetics Part A
Suter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares, M, Mensah, M A, Hülsemann, W, Holtgrewe, M, Mundlos, S, Kornak, U, Bartsch, O & Ehmke, N 2020, ' Variable pulmonary manifestations in Chitayat syndrome : Six additional affected individuals ', American Journal of Medical Genetics, Part A, vol. 182, no. 9, pp. 2068-2076 . https://doi.org/10.1002/ajmg.a.61735

Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f20109ad4f9ebdba4773c8c0b0a24f93
https://doi.org/10.1002/ajmg.a.61735