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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 3
2007 2
2008 2
2009 1
2010 1
2011 2
2012 1
2013 2
2014 2
2015 3
2016 2
2017 4
2018 7
2019 5
2020 4
2021 5
2022 3
2023 3
2024 1

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46 results

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Page 1
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Five-alpha-reductase type 2 deficiency in Spain.
Fernández-Cancio M, Audí L, Yeste D. Fernández-Cancio M, et al. Endocrinol Diabetes Nutr (Engl Ed). 2023 Jan;70(1):74-75. doi: 10.1016/j.endien.2022.08.005. Epub 2023 Jan 21. Endocrinol Diabetes Nutr (Engl Ed). 2023. PMID: 36690525 No abstract available.
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M, Dopazo J. López-López D, et al. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. Hum Genomics. 2023. PMID: 36894999 Free PMC article.
Incidence and Prevalence of Children's Diffuse Lung Disease in Spain.
Torrent-Vernetta A, Gaboli M, Castillo-Corullón S, Mondéjar-López P, Sanz Santiago V, Costa-Colomer J, Osona B, Torres-Borrego J, de la Serna-Blázquez O, Bellón Alonso S, Caro Aguilera P, Gimeno-Díaz de Atauri Á, Valenzuela Soria A, Ayats R, Martin de Vicente C, Velasco González V, Moure González JD, Canino Calderín EM, Pastor-Vivero MD, Villar Álvarez MÁ, Rovira-Amigo S, Iglesias Serrano I, Díez Izquierdo A, de Mir Messa I, Gartner S, Navarro A, Baz-Redón N, Carmona R, Camats-Tarruella N, Fernández-Cancio M, Rapp C, Dopazo J, Griese M, Moreno-Galdó A; ChILD-Spain Group. Torrent-Vernetta A, et al. Among authors: fernandez cancio m. Arch Bronconeumol. 2022 Jan;58(1):22-29. doi: 10.1016/j.arbres.2021.06.001. Epub 2021 Jun 17. Arch Bronconeumol. 2022. PMID: 35249699 Free article. English, Spanish.
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
Clemente M, Cobo P, Antolín M, Campos A, Yeste D, Tomasini R, Caimari M, Masas M, García-Arumí E, Fernández-Cancio M, Baz-Redón N, Camats-Tarruella N. Clemente M, et al. Among authors: fernandez cancio m. J Clin Endocrinol Metab. 2023 Oct 18;108(11):e1316-e1328. doi: 10.1210/clinem/dgad280. J Clin Endocrinol Metab. 2023. PMID: 37216904
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
Camats N, Pandey AV, Fernández-Cancio M, Fernández JM, Ortega AM, Udhane S, Andaluz P, Audí L, Flück CE. Camats N, et al. Among authors: fernandez cancio m. Clin Endocrinol (Oxf). 2014 Feb;80(2):191-9. doi: 10.1111/cen.12293. Epub 2013 Aug 17. Clin Endocrinol (Oxf). 2014. PMID: 23859637 Review.
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Paramonov I, Castillo-Corullón S, Cols Roig M, Antolín M, García Arumí E, Torrent-Vernetta A, de Mir Messa I, Gartner S, Iglesias Serrano I, Caballero-Rabasco MA, Asensio de la Cruz Ó, Vizmanos-Lamotte G, Martín de Vicente C, Martínez-Colls MDM, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Polverino E, Amengual Pieras E, Amaro-Rodríguez R, Garrido-Pontnou M, Tizzano E, Camats-Tarruella N, Fernández-Cancio M, Moreno-Galdó A. Baz-Redón N, et al. Among authors: fernandez cancio m. Arch Bronconeumol (Engl Ed). 2021 Mar;57(3):186-194. doi: 10.1016/j.arbres.2020.02.010. Epub 2020 Apr 3. Arch Bronconeumol (Engl Ed). 2021. PMID: 32253119 English, Spanish.
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
Baz-Redón N, Soler-Colomer L, Fernández-Cancio M, Benito-Sanz S, Garrido M, Moliné T, Clemente M, Camats-Tarruella N, Yeste D. Baz-Redón N, et al. Among authors: fernandez cancio m. Front Endocrinol (Lausanne). 2022 Oct 11;13:957969. doi: 10.3389/fendo.2022.957969. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36303863 Free PMC article.
Nutritional rickets: vitamin D, calcium, and the genetic make-up.
El Kholy M, Elsedfy H, Fernández-Cancio M, Hamza RT, Amr NH, Ahmed AY, Toaima NN, Audí L. El Kholy M, et al. Among authors: fernandez cancio m. Pediatr Res. 2017 Feb;81(2):356-363. doi: 10.1038/pr.2016.222. Epub 2016 Nov 3. Pediatr Res. 2017. PMID: 27973470
46 results