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151 results

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The first European consensus on principles of management for achondroplasia.
Cormier-Daire V, AlSayed M, Ben-Omran T, de Sousa SB, Boero S, Fredwall SO, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Peijin Z, Mohnike K. Cormier-Daire V, et al. Orphanet J Rare Dis. 2021 Jul 31;16(1):333. doi: 10.1186/s13023-021-01971-6. Orphanet J Rare Dis. 2021. PMID: 34332609 Free PMC article.
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council. Scarpa M, et al. Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. Orphanet J Rare Dis. 2011. PMID: 22059643 Free PMC article.
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, Moltó-Abad M, Moreno-Martínez D, García Morillo S, Blasco-Alonso J, Couce ML, Gil Sánchez R, Cortès-Saladelafont E, López Rodríguez MA, García-Silva MT, Morales Conejo M. Quijada-Fraile P, et al. Orphanet J Rare Dis. 2021 Nov 3;16(1):464. doi: 10.1186/s13023-021-02074-y. Orphanet J Rare Dis. 2021. PMID: 34732228 Free PMC article.
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Cormier-Daire V, AlSayed M, Alves I, Bengoa J, Ben-Omran T, Boero S, Fredwall S, Garel C, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Sousa SB, Mohnike K. Cormier-Daire V, et al. Orphanet J Rare Dis. 2022 Jul 27;17(1):293. doi: 10.1186/s13023-022-02442-2. Orphanet J Rare Dis. 2022. PMID: 35897040 Free PMC article.
Optimising care and follow-up of adults with achondroplasia.
Fredwall S, Allum Y, AlSayed M, Alves I, Ben-Omran T, Boero S, Cormier-Daire V, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB, Wright M. Fredwall S, et al. Orphanet J Rare Dis. 2022 Aug 20;17(1):318. doi: 10.1186/s13023-022-02479-3. Orphanet J Rare Dis. 2022. PMID: 35987833 Free PMC article.
Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I. Leiva-Gea A, et al. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. An Pediatr (Engl Ed). 2022. PMID: 36347803 Free article. Review.
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Barreda-Sánchez M, Buendía-Martínez J, Glover-López G, Carazo-Díaz C, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Rodriguez-Peña L, Serrano-Antón AT, Gil-Ferrer R, Martínez-Romero MDC, Carbonell-Meseguer P, Guillén-Navarro E. Barreda-Sánchez M, et al. Orphanet J Rare Dis. 2019 Feb 26;14(1):59. doi: 10.1186/s13023-019-1031-7. Orphanet J Rare Dis. 2019. PMID: 30808393 Free PMC article.
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Barreda-Sánchez M, Rodriguez-Peña L, Martínez-Menchon MT, Frías-Iniesta J, Sánchez-Pedreño P, Carbonell-Meseguer P, Glover-López G, Guillén-Navarro E; GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia). Martínez-Romero MC, et al. Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x. Orphanet J Rare Dis. 2019. PMID: 31796081 Free PMC article.
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.
Buendía-Martínez J, Barreda-Sánchez M, Rodríguez-Peña L, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Pérez-Tomás ME, Gil-Ferrer R, Avilés-Plaza F, Glover-López G, Carazo-Díaz C, Guillén-Navarro E. Buendía-Martínez J, et al. Orphanet J Rare Dis. 2021 Feb 27;16(1):106. doi: 10.1186/s13023-021-01742-3. Orphanet J Rare Dis. 2021. PMID: 33639982 Free PMC article.
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ, Pérez-Fernández V, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Rodríguez-Peña LI, Barreda-Sánchez M, Armengol-Dulcet L, Guillén-Navarro E. Ballesta-Martínez MJ, et al. Orphanet J Rare Dis. 2023 Jul 21;18(1):201. doi: 10.1186/s13023-023-02809-z. Orphanet J Rare Dis. 2023. PMID: 37480025 Free PMC article. Review.
151 results