F. Ballesta

发表

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

X. Estivill, H. Kruyer, M. Milá, 1994, American journal of human genetics.

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

X. Estivill, S. Antonarakis, M. Nadal, 1996, Human Genetics.

Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

W. Bickmore, I. Hanson, V. van Heyningen, 1992, American journal of human genetics.

SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.

R. Oliva, M. D. Coll, Á. Soler, 2000, American journal of medical genetics.

Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection.

M. Milá, A. Sánchez, J. Ballescà, 1998, Fertility and sterility.

Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.

J. Rosell, R. Oliva, A. Soler, 1998, Journal of medical genetics.

Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals.

R. Oliva, J. Vidal-Taboada, C. Rebordosa, 1998, Biochemical and biophysical research communications.

[Partial trisomy for the distal part of the short branch of chromosome 3].

F. Ballesta, L. Vehi, 1974, Annales de genetique.

Nager anomaly with severe facial involvement, microcephaly, and mental retardation.

F. Ballesta, A. Palomeque, X. Pastor, 1990, American journal of medical genetics.

Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis.

A. Soler, R. Queralt, D. Costa, 2000, American journal of medical genetics.

Cytogenetic Studies in Fetal Blood

M. Caballín, A. Borrell, B. Puerto, 1998, Fetal Diagnosis and Therapy.

Meiotic and sperm chromosome studies in a reciprocal translocation t(1;2)(q32;q36)

J. Egozcue, J. Navarro, J. Benet, 2004, Human Genetics.

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

X. Estivill, H. Kruyer, V. Volpini, 1994, Human Genetics.

Neurological Advertisements on Stamps

E. Tolosa, E. Muñoz, A. Ariza, 1999, Journal of neurology, neurosurgery, and psychiatry.

Assaying the granulocyte‐macrophage colony‐stimulating factor (GM‐CSF) as a mitogen of immature cells in fetal blood cultures

R. Caballín, A. Borrell, A. Fortuny, 1999, Prenatal diagnosis.

[Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].

X. Estivill, M. Milá, A. Sánchez, 1999, Medicina clinica.