Isidora López‐Pajares

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

Jutta Wirth, Hans Gerd Nothwang, Silvère M. van der Maarel et al. · Journal of Medical Genetics · 1999 · 97 citations · Full text

Tetrasomy 8p: Discordance of amniotic fluid and blood karyotypes

Isidora López‐Pajares, Alicia Delicado, Pablo Lapunzina et al. · American Journal of Medical Genetics Part A · 2003 · 75 citations

An excess of chromosome 1 breakpoints in male infertility

Iben Bache, Elvire Van Assche, Sultan Cingöz et al. · European Journal of Human Genetics · 2004 · 61 citations · Full text

Infertility, Fertility, Cytogenetics +8

Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene

Véronique Satre, Nicole Monnier, Florence Berthoin et al. · The American Journal of Human Genetics · 1999 · 55 citations

Genetic Disorder, Genetics, Ocrl1 Gene +8

A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings

María Ángeles Mori, Pablo Lapunzina, Alicia Delicado et al. · American Journal of Medical Genetics Part A · 2003 · 38 citations