Celia Medrano - Concepedia

Author

Celia Medrano

Centre for Biomedical Network Research on Rare Diseases ORCID

Also Known As

C Medrano, C. Medrano, Celia Medrano

Publications

422

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Universidad Autónoma de Madrid Centro de Biología Molecular Severo Ochoa Centro de Investigación Biomédica en Red Hospital Sant Joan de Déu Barcelona

About

Celia Medrano is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	277
2	Natural Sciences	2	2	117
3	Engineering	1	1	28
4	Biochemistry	1	1	97
5	Biology	1	1	20

Celia Medrano

Publications

414

Citations

H-Index

Page 1

	Year	Citations
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel, The American Journal of Human Genetics Abnormal Protein GlycosylationBiochemistryDisease MechanismNatural SciencesGlycosylation	2016	97
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene Belén Pérez, Celia Medrano, María Jesús Ecay, Journal of Inherited Metabolic Disease	2012	56
Chromosome translocations in couples with multiple spontaneous abortions. Virginia V. Michels, Celia Medrano, Vickie L. Venne, PubMed	1982	43
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis Celia Pérez‐Cerdá, M. Girós, Mercedes Serrano, The Journal of Pediatrics O-glycosylation ExperiencePopulation-based StudyMendelian DisorderClinical Genetic DisordersGenetic Disorder	2017	40
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing Ana Vega, Celia Medrano, Rosa Navarrete, Genetics in Medicine Clinical SymptomsSequencingMendelian DisorderMedicineGenetics	2016	39
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain Celia Medrano, Ana Vega, Rosa Navarrete, Clinical Genetics	2019	38
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant Luisa Arrabal, Libertad Teresa, Rocío Sánchez-Alcudia, Neurogenetics Genetic DisorderGeneticsGenotype–phenotype CorrelationsMolecular BiologyMolecular Genetics	2011	37
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress Patricia Yuste‐Checa, Ana Vega, Cristina Martín-Higueras, PLoS ONE EngineeringGlycosylation Dpagt1-cdgGeneticsCell DeathPathology	2017	28
Towards the Physical Map of the Trypanosoma cruzi Nuclear Genome: Construction of YAC and BAC Libraries of the Reference Clone T. cruzi CL-Brener Ivan Vito Ferrari, Hernán Lorenzi, MR Santos, Memórias do Instituto Oswaldo Cruz Comparative GenomicsGeneticsMolecular BiologyMolecular GeneticsGenomics	1997	20
Antisense‐mediated therapeutic pseudoexon skipping in <scp>TMEM165‐CDG</scp> Patricia Yuste‐Checa, Celia Medrano, Alejandra Gámez, Clinical Genetics Therapeutic PseudoexonFunctional GenomicsGenetic DisorderMedicineAntisense Rna Rescue	2014	16

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