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Ophthalmic Genetics|July 27, 1999
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibsI Lorda-Sanchez, M J Trujillo, A Gimenez, et al.Prenatal Diagnosis|March 4, 2000
Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluidR Sanz, M A Anabitarte, M E Querejeta, et al.Molecular Vision|February 6, 2007
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt diseaseR Riveiro-Alvarez, D Valverde, I Lorda-Sanchez, et al.American Journal of Medical Genetics. Part A|October 18, 2008
A small and active ring X chromosome in a female with features of Kabuki syndromeL Rodríguez, D Diego-Alvarez, I Lorda-Sanchez, et al.Journal of Medical Genetics|December 1, 1995
Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome paintingA Schinzel, I Lorda-Sanchez, F Binkert, et al.American Journal of Medical Genetics|February 24, 2001
Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded childI Lorda-Sanchez, I Lopez-Pajares, M C Roche, et al.Genetic Counseling (Geneva, Switzerland)|October 24, 2000
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patientI Lorda-Sanchez, P J Garcia-Ruiz, M Rodriguez de Alba, et al.Ophthalmic Genetics|January 3, 2001
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) familyM J Trujillo, B Garcia-Sandoval, I Lorda-Sanchez, et al.Prenatal Diagnosis|March 22, 2001
Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimestersM Rodríguez de Alba, P Palomino, C González-González, et al.Fetal Diagnosis and Therapy|February 15, 2001
Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparationsR Sanz, I Lorda-Sanchez, J M Fernández-Moya, et al.Pageof 3