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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.
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: camats tarruella n. 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.
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: camats tarruella n. 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.
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: camats tarruella n. J Clin Endocrinol Metab. 2023 Oct 18;108(11):e1316-e1328. doi: 10.1210/clinem/dgad280. J Clin Endocrinol Metab. 2023. PMID: 37216904
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: camats tarruella n. 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.
A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report.
Yeste D, Aguilar-Riera C, Canestrino G, Fernández-Alvarez P, Clemente M, Camats-Tarruella N. Yeste D, et al. Among authors: camats tarruella n. Front Endocrinol (Lausanne). 2022 Jun 28;13:884107. doi: 10.3389/fendo.2022.884107. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35837313 Free PMC article.
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.
Baz-Redón N, Sánchez-Bellver L, Fernández-Cancio M, Rovira-Amigo S, Burgoyne T, Ranjit R, Aquino V, Toro-Barrios N, Carmona R, Polverino E, Cols M, Moreno-Galdó A, Camats-Tarruella N, Marfany G. Baz-Redón N, et al. Among authors: camats tarruella n. Cells. 2024 Mar 16;13(6):524. doi: 10.3390/cells13060524. Cells. 2024. PMID: 38534367 Free PMC article.
Role of Immunofluorescence and Molecular Diagnosis in the Characterization of Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Camats-Tarruella N, Fernández-Cancio M, Garrido-Pontnou M, Antolín M, Reula A, Armengot-Carceller M, Carrascosa A, Moreno-Galdó A. Baz-Redón N, et al. Among authors: camats tarruella n. Arch Bronconeumol (Engl Ed). 2019 Aug;55(8):439-441. doi: 10.1016/j.arbres.2019.01.021. Epub 2019 Mar 5. Arch Bronconeumol (Engl Ed). 2019. PMID: 30850195 English, Spanish. No abstract available.
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Fernández-Cancio M, Castillo-Corullón S, Cols M, Caballero-Rabasco MA, Asensio Ó, Martín de Vicente C, Martínez-Colls MDM, Torrent-Vernetta A, de Mir-Messa I, Gartner S, Iglesias-Serrano I, Díez-Izquierdo A, Polverino E, Amengual-Pieras E, Amaro-Rodríguez R, Vendrell M, Mumany M, Pascual-Sánchez MT, Pérez-Dueñas B, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Garrido-Pontnou M, Camats-Tarruella N, Moreno-Galdó A. Baz-Redón N, et al. Among authors: camats tarruella n. J Clin Med. 2020 Nov 9;9(11):3603. doi: 10.3390/jcm9113603. J Clin Med. 2020. PMID: 33182294 Free PMC article.
12 results