Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Authors: Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D., Jones, Marilyn C., Masser-Frye, Diane, Scheuerle, Angela E., Perry, Denise L., Taft, Ryan J., Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M.

Source: American journal of human genetics. 103(4):602-611

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081332385.0x000001&indx=1&recIds=ETOCvdc_100081332385.0x000001

Prenatal Evaluation of a Fetal Cystic Hygroma: An Unexpected Finding of a De Novo Fetal BRCA1 Deletion Case Report.

Authors: Laniewski, Stephanie C., Hirschler, LauraAnne, Iqbal, Anwar M., Seligman, Neil S.

Source: Reproductive Medicine; Dec2023, Vol. 4 Issue 4, p242-247, 6p

Subject Terms: GENETIC mutation, ULTRASONIC imaging, HYPOGLYCEMIC sulfonylureas, BRCA genes, FIRST trimester of pregnancy, GENETIC testing, LYMPHATIC tumors, CHORIONIC villus sampling, FLUORESCENCE in situ hybridization, CYTOGENETICS, OLIGONUCLEOTIDE arrays, DISEASE risk factors, ADULTS, FETUS