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Celia Medrano
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CCDC115 deficiency causes a disorder of Golgi homeostasis with abnormal protein glycosylation
JC Jansen, S Cirak, M Van Scherpenzeel, S Timal, J Reunert, S Rust, ...
The American Journal of Human Genetics 98 (2), 310-321, 2016
1092016
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene
B Pérez, C Medrano, MJ Ecay, P Ruiz-Sala, M Martínez-Pardo, M Ugarte, ...
Journal of inherited metabolic disease 36, 535-542, 2013
612013
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
L Arrabal, L Teresa, R Sánchez-Alcudia, M Castro, C Medrano, ...
Neurogenetics 12, 183-191, 2011
532011
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
AI Vega, C Medrano, R Navarrete, LR Desviat, B Merinero, ...
Genetics in medicine 18 (10), 1037-1043, 2016
412016
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain
C Medrano, A Vega, R Navarrete, MJ Ecay, R Calvo, SI Pascual, ...
Clinical Genetics 95 (5), 615-626, 2019
382019
A population-based study on congenital disorders of protein N-and combined with O-glycosylation experience in clinical and genetic diagnosis
C Pérez-Cerdá, ML Girós, M Serrano, MJ Ecay, L Gort, BP Dueñas, ...
The Journal of pediatrics 183, 170-177. e1, 2017
322017
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress
P Yuste-Checa, AI Vega, C Martín-Higueras, C Medrano, A Gámez, ...
PLoS One 12 (6), e0179456, 2017
262017
Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG
P Yuste‐Checa, C Medrano, A Gámez, LR Desviat, G Matthijs, M Ugarte, ...
Clinical Genetics 87 (1), 42-48, 2015
132015
Protocolo de diagnóstico y tratamiento de los defectos congénitos de glicosilación
C Pérez-Cerdá, ML Girós, M Serrano, BP Dueñas, MJ Ecay, C Medrano, ...
de diagnóstico y tratamiento de los ErrorEs Congénitos del MEtabolisMo, 271, 2015
12015
Protocolo de diagnóstico y tratamiento de los defectos congénitos de glicosilación
CPC Silvestre, MG Blasco, M Serrano, BP Dueñas, MJ Ecay, C Medrano, ...
Protocolos de diagnóstico y tratamiento de los errores congénitos del …, 2018
2018
Congenital Disorders of Glycosilation: Antisense therapy in TMEM165 deficiency
P Yuste-Checa, C Medrano, LR Desviat, M Ugarte, C Pérez-Cerda, ...
European Journal of Human Genetics 21, 262-262, 2013
2013
A NOVEL NON-NEUROLOGICAL CONGENITAL DISORDER OF GLYCOSYLATION CAUSED BY MUTATIONS IN THE PHOSPHOGLUCOMUTASE 1 GENE
B Perez, C Medrano, MJ Ecay, P Ruiz Sala, M Martinez-Pardo, M Ugarte, ...
JOURNAL OF INHERITED METABOLIC DISEASE 35, S111-S111, 2012
2012
GENETIC ANALYSIS OF CONGENITAL DISORDERS OF GLYCOSYLATION (CDG) PATIENTS USING CANDIDATE GENE GENOMIC CAPTURE AND NEXT GENERATION SEQUENCING
C Medrano, C Perez-Cerda, P Gomez-Puerta, LR Desviat, M Ugarte, ...
JOURNAL OF INHERITED METABOLIC DISEASE 35, S113-S113, 2012
2012
EXPANDING OUR KNOWLEDGE OF CONGENITAL DISORDER OF GLYCOSYLATION-DPAGT1 TYPE
B Perez, A Vega, C Medrano, C Martin-Higueras, S Pascual, I Arroyo, ...
JOURNAL OF INHERITED METABOLIC DISEASE 35, S113-S113, 2012
2012
FUNCTIONAL ANALYSIS OF TWO POINT MUTATIONS IN THE SPR GENE IDENTIFIED IN SPANISH PATIENTS WITH DOPA-RESPONSIVE DYSTONIA
L Teresa, B Perez, M Castro, C Medrano, B Merinero, M Ugarte, ...
JOURNAL OF INHERITED METABOLIC DISEASE 33, S162-S162, 2010
2010
Diagnóstico molecular por secuenciación masiva de glucogenosis y enfermedades con síntomas clínicos solapantes
AI Vega, C Medrano, R Navarrete, P Rodríguez-Pombo, I Vitoria, ...
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