57
Articles
2.4K
Citations
3
avg. Impact Factor
22
h-index

Most Cited Articles of Departments of Pharmacology-Physiology and Pediatrics

TitleJournalYearCitations
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasisNature Genetics2006432
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056Science Translational Medicine2011287
Dietary risk factors for development of childhood obesityCurrent Opinion in Clinical Nutrition and Metabolic Care2007180
Body fat measurement in adolescents: comparison of skinfold thickness equations with dual-energy X-ray absorptiometryEuropean Journal of Clinical Nutrition2005152
Do children and their parents eat a similar diet? Resemblance in child and parental dietary intake: systematic review and meta-analysisJournal of Epidemiology and Community Health2011137
Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNAHuman Mutation2006133
Health-related fitness in adolescents: underweight, and not only overweight, as an influencing factor. The AVENA studyScandinavian Journal of Medicine and Science in Sports2010112
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceHuman Molecular Genetics201499
Body composition in adolescents: measurements and metabolic aspectsInternational Journal of Obesity200487
A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's diseaseAnnals of the New York Academy of Sciences200884
Television watching, videogames, and excess of body fat in Spanish adolescents: the AVENA studyNutrition200882
Adiposity, physical activity, and physical fitness among children from Aragón, SpainObesity200770
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndromeAmerican Journal of Medical Genetics, Part A201062
Physical fitness effect on bone mass is mediated by the independent association between lean mass and bone mass through adolescence: a cross-sectional studyJournal of Bone and Mineral Metabolism200860
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesHuman Mutation201551
Early life programming of abdominal adiposity in adolescents: The HELENA StudyDiabetes Care200941
Obesity susceptibility loci on body mass index and weight loss in Spanish adolescents after a lifestyle interventionJournal of Pediatrics201231
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk predictionClinical Genetics201629
Screening performances of the International Obesity Task Force body mass index cut-off values in adolescentsJournal of the American College of Nutrition200626
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patientsArchives of Biochemistry and Biophysics199825
Liver enzymes and clustering cardiometabolic risk factors in European adolescents: the HELENA studyPediatric Obesity201524
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathwayMolecular Biology Reports201222
Validity of resting energy expenditure predictive equations before and after an energy-restricted diet intervention in obese womenPLoS ONE201122
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutationsEuropean Journal of Medical Genetics201321
High fat diets are associated with higher abdominal adiposity regardless of physical activity in adolescents; the HELENA studyClinical Nutrition201419