Rescuing monopronucleated-derived human blastocysts: a model to study chromosomal topography and fingerprinting.

Objective: To quantify the percentage of monopronuclear-derived blastocysts (MNBs) that are potentially useful for reproductive purposes using classic and state-of-the-art chromosome analysis approaches, and to study chromosomal distribution in the inner cell mass (ICM) and trophectoderm (TE) for intertissue/intratissue concordance comparison.

Design: Prospective experimental study.

Setting: Single-center in vitro fertilization clinic and reproductive genetics laboratory.

Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report.

Intellectual disability (ID) is the most common diagnosis noted among children with genetic disorders. It causes social and economic burden to families and communities. The genetic causes are not completely understood, and there is significant heterogeneity.

Taxonomic position of the genus Bicornispora and the appearance of a new species Bicornispora seditiosa.

The discovery of a second species of Bicornispora in Spain, B. seditiosa, which is closely related to B. exophiala but has smaller ascospores, narrower asci and different ecology, gave us the opportunity to culture and sequence the fungus.

Within-subject biological variation in disease: collated data and clinical consequences.

Quantitative data on the components of biological variation (BV) are used for several purposes, including calculating the reference change value (RCV) required for the assessment of the significance of changes in serial results in an individual. Pathology may modify the set point in diseased patients and, more importantly, the variation around that set-point. Our aim was to collate all published BV data in situations other than health.