R. Sanz

发表

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

P. Bovolenta, H. Brunner, J. Lopez-Rios, 1999, Genomics.

Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: Report of 66 cases

C. Ayuso, C. Lahoz, C. Ramos, 1999, Prenatal diagnosis.

Three novel RDS‐peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations

C. Ayuso, C. Ramos, R. Sanz, 1998 .

Antenatal diagnosis and management of a ranula

C. Ramos, G. Pérez Tejerizo, R. Sanz, 1998, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Sonographic, Cytogenetic and DNA Analysis in Four 69,XXX Fetuses Diagnosed in the Second Trimester

C. Ayuso, M. Robledo, C. Ramos, 2000, Fetal Diagnosis and Therapy.

A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers.

C. Ayuso, E. Fernández, C. Ramos, 2001, Genetic counseling.

Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.

C. Ayuso, C. Ramos, I. Lorda‐Sánchez, 2000, American journal of medical genetics.

Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters

C. Ayuso, C. Ramos, J. Díaz-Recasens, 2001, Prenatal diagnosis.

Does Bardet-Biedl syndrome have a characteristic face?

C. Ayuso, I. Lorda‐Sánchez, R. Sanz, 2001, Journal of medical genetics.

New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

C. Ayuso, M. García-Hoyos, D. Cantalapiedra, 2005, American journal of medical genetics. Part A.

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

C. Ayuso, C. Ramos, J. Díaz-Recasens, 1999, Prenatal diagnosis.

Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid

C. Ayuso, C. Ramos, M. Anabitarte, 2000, Prenatal diagnosis.

Chromosomal Mosaicism for Isochromosome 11q Confined to CVS Direct Preparations

C. Ayuso, M. Robledo, C. Ramos, 2001, Fetal Diagnosis and Therapy.

Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.

P. Bovolenta, J. Lopez-Rios, S. Rodríguez de Córdoba, 1999, Genomics.