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Mónica Fernández‐Cancio

Observed names: Fernandez-Cancio, Monica, Fernández-Cancio M, Fernández-Cancio M., Fernández-Cancio, M., Fernández-Cancio, Mónica, M Fernández-Cancio, M Feránndez Cancio, M. Fernandez-Cancio, M. Fernandez‐Cancio, M. Fernández-Cancio, M. Fernández Cancio, M. Fernández-Cancio, M. Fernández‐Cancio, Monica Fernandez, Monica Fernandez-Cancio, Monica Fernández-Cancio, Monica Fernández-Cancio, Monica Fernández-cancio, Mónica Fernández-Cancio, Mónica Fernández Cancio, Mónica Fernández-Cancio, Mónica Fernández-cancio
Observed institutions: Universitat Autònoma de Barcelona, Instituto de Salud Carlos III, Vall d'Hebron Institut de Recerca, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Vall d'Hebron Hospital Universitari, Universitat de Barcelona
ORCID: 0000-0003-1872-3488
Observed ORCID: 0000-0003-1872-3488
OpenAlex ID: A5047916632
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
2017 · Rathi Prasad, Irene Hadjidemetriou, et al. · Journal of Clinical Investigation · 175
Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development
2010 · L. Audi, M. Fernández-Cancio, et al. · The Journal of Clinical Endocrinology & Metabolism · 143
Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals
2012 · N. Camats, A. V. Pandey, et al. · The Journal of Clinical Endocrinology & Metabolism · 134
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Rickets in the Middle East: Role of Environment and Genetic Predisposition
2008 · Giampiero I. Baroncelli, Abdullah Bereket, et al. · The Journal of Clinical Endocrinology & Metabolism · 129
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Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
2011 · Christa E. Flück, Amit V. Pandey, et al. · PLoS ONE · 94
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The d3/fl-Growth Hormone (GH) Receptor Polymorphism Does Not Influence the Effect of GH Treatment (66 μg/kg per Day) or the Spontaneous Growth in Short Non-GH-Deficient Small-for-Gestational-Age Children: Results from a Two-Year Controlled Prospective Study in 170 Spanish Patients
2006 · A. Carrascosa, C. Esteban, et al. · The Journal of Clinical Endocrinology & Metabolism · 80
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings
2019 · Francesc Rudilla, Clara Franco-Jarava, et al. · Frontiers in Immunology · 68
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
2018 · Núria Camats, Mónica Fernández-Cancio, et al. · European Journal of Human Genetics · 65
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AR and SRD 5A2 gene mutations in a series of 51 Turkish 46, XY DSD children with a clinical diagnosis of androgen insensitivity
2014 · T. Akcay, M. Fernandez‐Cancio, et al. · Andrology · 57
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Incidence and Prevalence of Children's Diffuse Lung Disease in Spain
2021 · Alba Torrent-Vernetta, Mirella Gaboli, et al. · Archivos de Bronconeumología · 45
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency
2018 · Mónica Fernández-Cancio, Núria Camats, et al. · Pharmaceuticals · 45
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Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis
2014 · Jana Malikova, Núria Camats, et al. · PLoS ONE · 45
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The Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism Did Not Influence Growth Response to Growth Hormone Therapy over Two Years in Prepubertal Short Children Born at Term with Adequate Weight and Length for Gestational Age
2007 · A. Carrascosa, L. Audí, et al. · The Journal of Clinical Endocrinology & Metabolism · 42
Growth Hormone (GH) Dose, But Not Exon 3-Deleted/Full-Length GH Receptor Polymorphism Genotypes, Influences Growth Response to Two-Year GH Therapy in Short Small-for-Gestational-Age Children
2007 · Antonio Carrascosa, Laura Audí, et al. · The Journal of Clinical Endocrinology & Metabolism · 42
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes
2018 · Idoia Martinez de LaPiscina, Carmen de Mingo, et al. · Frontiers in Endocrinology · 41
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SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation
2011 · M. Fernández-Cancio, L. Audí, et al. · International Journal of Andrology · 41
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Longitudinal Pubertal Growth According to Age at Pubertal Growth Spurt Onset: Data from a Spanish Study Including 458 Children (223 Boys and 235 Girls)
2009 · A. Ferrández, A. Carrascosa, et al. · Journal of Pediatric Endocrinology and Metabolism · 38
Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin
2004 · Mónica Fernández‐Cancio, Manuel Nistal, et al. · Journal of Andrology · 38
Índice de masa corporal e índice de masa triponderal de 1.453 niños no obesos ni malnutridos de la generación del milenio. Estudio longitudinal de Barcelona
2018 · Antonio Carrascosa, Diego Yeste, et al. · Anales de Pediatría · 36
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VDR gene polymorphism at exon 2 start codon (FokI) may have influenced Type 1 diabetes mellitus susceptibility in two Spanish populations
2004 · L. Audí, G. Martí, et al. · Diabetic Medicine · 35
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
2019 · Christa E. Flück, Laura Audí, et al. · Frontiers in Genetics · 33
Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF ‐ I receptor ( IGF1R ) gene
2012 · José I. Labarta, Eva Barrio, et al. · Clinical Endocrinology · 31
Vitamin D and growth hormone regulate growth hormone/insulin-like growth factor (GH–IGF) axis gene expression in human fetal epiphyseal chondrocytes
2008 · M. Fernández-Cancio, L. Audi, et al. · Growth Hormone & IGF Research · 31
Sources of interference in the use of 2,3-diaminonaphthalene for the fluorimetric determination of nitric oxide synthase activity in biological samples
2001 · Mónica Fernández-Cancio, Eva Marı́a Fernández-Vitos, et al. · Clinica Chimica Acta · 30
Crecimiento puberal de 1.453 niños sanos según la edad de inicio de la pubertad. Estudio longitudinal de Barcelona
2018 · Antonio Carrascosa, Diego Yeste, et al. · Anales de Pediatría · 29
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Works count: 117
Citation count: 2,175
H-index: 28
I10-index: 51
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