Publication & Citation Trends
Publications
0 total
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients OA
Cited by 27
Semantic Scholar
Early Onset Obesity and Hyperphagia Associated with Defects in the GNAS Gene
Cited by 2
Semantic Scholar
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer OA
Cited by 66
Semantic Scholar
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature OA
Cited by 44
Semantic Scholar
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia OA
Cited by 13
Semantic Scholar
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations
Cited by 6
Semantic Scholar
A non‐pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX
Cited by 6
Semantic Scholar
Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).
Cited by 7
Semantic Scholar
Research Topics
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
(5)
Sexual Differentiation and Disorders
(5)
Hormonal and reproductive studies
(3)
Genomics and Chromatin Dynamics
(2)
Epigenetics and DNA Methylation
(2)
Affiliations
Hospital Universitario La Paz
Instituto de Salud Carlos III
Centre for Biomedical Network Research on Rare Diseases
Centro de Investigación Biomédica en Red
Universidad Autónoma de Madrid