2 documents found, page 1 of 1
Genomic landscape of balanced cytogenetic abnormalities in subjects with multip...
Redin, Claire; Brand, Harrison; Collins, Ryan; Hanscom, Carrie; Vamsee, Pillalamarri; Kammin, Tammy; Mitchell, E.; Hodge, J.C.; Schilit, S.Balanced chromosomal abnormalities (BCAs) represent a unique class of genomic variation that involves large rearrangement of the chromosomes. To date their detection has been limited to cytogenetic resolution as most first-tier genetic screening methods are blind to their presence. We defined the genomic landscape of de novo BCAs associated with human congenial anomalies in 235 subjects using whole-genome seque...
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate defici...
Ramaekers, V.T.; Sequeira, J.M.; Artuch, R.; Blau, N.; Temudo, T.; Ormazabal, A.; Pineda, M.; Aracil, A.; Roelens, F.; Laccone, F.; Quadros, E.V.Neuropediatrics. 2007 Aug;38(4):179-83. Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV. Division of Pediatric Neurology, University Hospital Aachen, Germany. vramaekers@skynet.be Abstract Rett syndrome was associated with low cerebrospina...