MOLECULAR AND CLINICAL ANALYSES OF GREIG CEPHALOPOLYSYNDACTYLY AND PALLISTER-HALL SYNDROMES: ROBUST PHENOTYPE PREDICTION FROM THE TYPE AND POSITION OF GLI3 MUTATIONS

Autor: Arthur S. Aylsworth, Nancy J. Mendelsohn, Kathleen A. Leppig, Albert David, H. Eugene Hoyme, Carlo Marcelis, Louise Brueton, Joan M. Stoler, Elaine H. Zackai, Roberta A Pagon, Mary Beth Dinulos, Raoul C.M. Hennekam, David J. Aughton, Cynthia J. Curry, Billur Moghaddam, Jennifer J. Johnston, Marie T. McDonald, Kathryn F. Peters, Laura Mazzanti, Laurie S. Sadler, Carol Booth, Catherine Walsh Vockley, David Tilstra, Lewis B. Holmes, Touran M. Zadeh, Isabelle M. Olivos-Glander, John A. Phillips, Michael J. Bamshad, Angela E. Lin, David B. Flannery, Alan E. Guttmacher, Emma Elson, Leslie G. Biesecker, Christina Killoran, Graeme C.M. Black, Ruth Newbury-Ecob, Wolfram Henn, Patrick MacLeod, John M. Graham, John B. Moeschler, Emma McCann, Margaret H. Abbott, Michelle Fox, Giovanni Neri, Joyce T. Turner, Mark C. Hannibal, David K. Manchester, Dorothy K. Grange

Publikováno v: American Journal of Human Genetics, 76, 4, pp. 609-22
American journal of human genetics, 76(4), 609-622. Cell Press
American Journal of Human Genetics, 76, 609-22
American Journal of Human Genetics, 76(4), 609-622. Cell Press

Contains fulltext : 48832.pdf (Publisher’s version ) (Closed access) Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9065a70942d64f6feadc3df655f22012
http://hdl.handle.net/11585/21902

Prenatal diagnosis of mosaic trisomy 9

Autor: Constance Sandlin, June Peters, Touran M. Zadeh

Publikováno v: Prenatal Diagnosis. 7:67-70

Mosaic trisomy 9 was detected in an amniotic fluid cell culture from a 40-year-old woman evaluated because of advanced maternal age. After counselling, parents elected to terminate the pregnancy. On autopsy the fetus was found to have hydrocephalus a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db441bf7edaff3144747dd836214ddb5
https://doi.org/10.1002/pd.1970070110