Improvisation in times of pandemic, a reason for reflection

Autor: Jesús Troya, MD PHD, Luis Miguel Seijo, MD PHD, Mario Pérez, MD, Lucia Sentchordi-Montane, MD, Álvaro Martínez-Alcalá, MD

Publikováno v: International Journal of Infectious Diseases, Vol 96, Iss , Pp 361-362 (2020)

Externí odkaz: https://doaj.org/article/80c7e98cec3e4e30bef867176bc5c6cb

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

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice

Autor: Lucia, Sentchordi-Montané, Francisca, Diaz-Gonzalez, Elena V, Cátedra-Vallés, Karen E, Heath

Publikováno v: Clinical geneticsREFERENCES. 99(2)

Multiple synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either NOG, GDF5, FGF9 or GDF6. To date, only two FGF9 variants have been associated with SYNS, cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0eb0c85d7503437e9ba0f2142149e575
https://pubmed.ncbi.nlm.nih.gov/33140402

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

Autor: Alexander A. L. Jorge, Larisa Suarez-Ortega, Ana Portela, Sara Benito-Sanz, Gabriel Á. Martos-Moreno, Purificación Ros-Pérez, Inés Mulero-Collantes, Lucía Garzón-Lorenzo, Antonio M. Lerario, Guiomar Perez de Nanclares, Elena Vallespín, J. Pozo, Karen E. Heath, Isabel Llano-Rivas, Pablo Ruiz-Ocaña, Lucia Sentchordi-Montané, Miriam Aza-Carmona, Nancy Elizabeth Portillo-Najera, Jesús González-Buitrago, Gabriela A Vasques, André M. Travessa, Angela del Pozo, Cristina Alfaro-Iznaola, Isabel González-Casado, María Martín-Frías, Arrate Pereda, Mariana F A Funari, Mario Solís, Paula Casano-Sancho, Lorea Ruiz-Pérez, Carolina de la Torre, Manuel Parrón-Pajares, Joaquín Ramírez-Fernández, Patrícia Dias

Publikováno v: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Context Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand and feet skeletal anomalies with short stature. Genetic screening in individuals with short stature and mild skeletal anom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a42a530442551cf57ef0f1c25a72498
https://pubmed.ncbi.nlm.nih.gov/32311039

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

Autor: Emma L. Duncan, A. Belinchón-Martínez, Jimena Barraza-García, Graeme R. Clark, P. Prieto-Matos, Karen E. Heath, K. Ibáñez-Garikano, Carlos I. Rivera-Pedroza, Amaka C. Offiah, Lucia Sentchordi-Montané, Alfonso Hisado-Oliva, Valérie Cormier-Daire, A. del Pozo

Publikováno v: Clinical Genetics. 92:91-98

Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease-mitochondrial RNA processing (RNase-MRP) and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the ass

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cff20b8eccc77da302f6d7284704161e
https://doi.org/10.1111/cge.12964