Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

86 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genetic diagnosis of basal ganglia disease in childhood.
Baide-Mairena H, Marti-Sánchez L, Marcé-Grau A, Cazurro-Gutiérrez A, Sanchez-Montanez A, Delgado I, Moreno-Galdó A, Macaya-Ruiz A, García-Arumí E, Pérez-Dueñas B; Childhood Basal Ganglia Disease Group. Baide-Mairena H, et al. Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5. Dev Med Child Neurol. 2022. PMID: 34988976 Free article.
[Protocol for the diagnosis and follow up of patients with cystic fibrosis].
Barrio Gómez de Agüero MI, García Hernández G, Gartner S; Grupo de Trabajo de Fibrosis Quística. Barrio Gómez de Agüero MI, et al. An Pediatr (Barc). 2009 Sep;71(3):250-64. doi: 10.1016/j.anpedi.2009.06.020. Epub 2009 Jul 29. An Pediatr (Barc). 2009. PMID: 19643690 Free article. 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. 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.
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. J Clin Med. 2020 Nov 9;9(11):3603. doi: 10.3390/jcm9113603. J Clin Med. 2020. PMID: 33182294 Free PMC article.
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.
16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.
Lasa-Aranzasti A, Cazurro-Gutiérrez A, Bescós A, González V, Ispierto L, Tardáguila M, Valenzuela I, Plaja A, Moreno-Galdó A, Macaya-Ruiz A, Pérez-Dueñas B. Lasa-Aranzasti A, et al. Parkinsonism Relat Disord. 2022 Oct;103:112-114. doi: 10.1016/j.parkreldis.2022.08.032. Epub 2022 Sep 7. Parkinsonism Relat Disord. 2022. PMID: 36096018 No abstract available.
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. 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 English, Spanish.
Children interstitial lung disease: Assessment and management.
Moreno-Galdo A, Iglesias-Serrano I, Rovira-Amigo S, Torrent-Vernetta A. Moreno-Galdo A, et al. Pediatr Pulmonol. 2024 Oct 9. doi: 10.1002/ppul.27261. Online ahead of print. Pediatr Pulmonol. 2024. PMID: 39382376 Review.
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. 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.
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
Cruz-Utrilla A, Gallego-Zazo N, Tenorio-Castaño JA, Guillén I, Torrent-Vernetta A, Moya-Bonora A, Labrandero C, Rodríguez-Monte MEG, Rodríguez-Ogando A, Rey MDMRVD, Espín J, Plata-Izquierdo B, Álvarez-Fuente M, Moreno-Galdó A, Escribano-Subias P, Marín MJDC. Cruz-Utrilla A, et al. Int J Mol Sci. 2022 Sep 9;23(18):10433. doi: 10.3390/ijms231810433. Int J Mol Sci. 2022. PMID: 36142358 Free PMC article.
86 results