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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

55 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
Serrano NL, De Diego V, Cuadras D, Martinez Monseny AF, Velázquez-Fragua R, López L, Felipe A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M; CDG Spanish-Consortium. Serrano NL, et al. Among authors: velazquez fragua r. Orphanet J Rare Dis. 2017 Sep 15;12(1):155. doi: 10.1186/s13023-017-0707-0. Orphanet J Rare Dis. 2017. PMID: 28915903 Free PMC article.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. Martinez-Monseny A, et al. Among authors: velazquez fragua r. J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464053
Bilateral spinal neurofibromas in patients with neurofibromatosis 1.
Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J, Velazquez-Fragua R, López-Gutierrez JC. Pascual-Castroviejo I, et al. Brain Dev. 2012 Aug;34(7):563-9. doi: 10.1016/j.braindev.2011.09.011. Epub 2011 Oct 14. Brain Dev. 2012. PMID: 21999966
Sturge-Weber syndrome: study of 55 patients.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J. Pascual-Castroviejo I, et al. Can J Neurol Sci. 2008 Jul;35(3):301-7. doi: 10.1017/s0317167100008878. Can J Neurol Sci. 2008. PMID: 18714797
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R, Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R, Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M. Pérez-Poyato MS, et al. J Inherit Metab Dis. 2011 Oct;34(5):1083-93. doi: 10.1007/s10545-011-9323-7. Epub 2011 Apr 16. J Inherit Metab Dis. 2011. PMID: 21499717
55 results