- SHOX intragenic microsatellite analysis in patients with short statureBegoña Ezquieta
Servicio de Bioquimica, Hospital La Paz, Madrid, Spain
J Pediatr Endocrinol Metab 15:139-48. 2002..SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome...
- Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting diseaseBegoña Ezquieta
Laboratorio de Diagnóstico Molecular, Hospital Universitario Gregorio Maranon, Madrid, Spain
Prenat Diagn 30:758-63. 2010..However, proper genetic counselling requires the accurate identification of apparently 'mild alleles' in partners of CAH-carriers/patients...
- Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasiaVerónica Barca-Tierno
Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Universidad Autonoma de Madrid, Madrid, Spain
Eur J Hum Genet 19:1218-25. 2011..509C>A (p.A170D), in two unrelated Spanish LWD families, which similar to A170P mutation impedes nuclear localization of SHOX. In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD individuals...
- Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathyBegoña Ezquieta
Laboratorio de Diagnóstico Molecular, Hospital General Universitario Gregorio Maranon, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain
Rev Esp Cardiol (Engl) 65:447-55. 2012..A study of 6 genes of the RAS-MAPK pathway in Spanish patients is presented: the impact of heart disease, clinical expressivity, and diagnostic yield are investigated...