Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Michelle Clemens"'
Autor:
Michelle Clemens, Devereux N. Saller, Svetlana A. Yatsenko, David G. Peters, Aleksandar Rajkovic, Tianjiao Chu
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 17, iss 10
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine : official journal of the American College of Medical Genetics
Noninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies. NIPS can identify fetal genomic microdeletions; how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::968f4609f9440cde92ab11cbeaca3566
https://escholarship.org/uc/item/2wf0v8t9
https://escholarship.org/uc/item/2wf0v8t9
Autor:
Raoul C.M. Hennekam, Ann Haskins Olney, Elizabeth Roeder, Sherri J. Bale, Sylvie Odent, Nan Zhou, Mauricio R. Delgado, Robert Long, Véronique David, Elizabeth McPherson, Michelle Clemens, Nancy J. Clegg, Ute Hehr, Aimee D C Paulussen, Erich Roessler, Eric Levey, Ewa Pronicka, Derek A. T. Cummings, Lars-Erik Wehner, Felicitas Lacbawan, Donald W. Hadley, Sandra Mercier, Daniel E. Pineda-Alvarez, Jin S. Hahn, Sue Kenwrick, Sophia M. Bous, Christèle Dubourg, Carol Booth, Elaine E. Stashinko, Amelia A. Keaton, Hubert J T Smeets, Joan Z. Balog, Anna Tylki-Szymańska, Jorge I. Vélez, Maximilian Muenke, Chayim Can Schell-Apacik, Ronald L. Thomas, Emily Hardisty, Kenneth N. Rosenbaum, Benjamin D. Solomon, Dagmar Wieczorek
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Journal of Medical Genetics, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Journal of Medical Genetics, 47(8), 513-524. BMJ Publishing Group
Journal of medical genetics, 47(8), 513-524. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Journal of Medical Genetics, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Journal of Medical Genetics, 47(8), 513-524. BMJ Publishing Group
Journal of medical genetics, 47(8), 513-524. BMJ Publishing Group
Holoprosencephaly (HPE) is the most common malformation of the human forebrain, and may be due to cytogenetic anomalies, teratogens, occur in the context of a syndrome, or be due to mutations in single genes associated with non-syndromic HPE. Mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fb303e051f62a85257ada1175479c33
https://europepmc.org/articles/PMC3208626/
https://europepmc.org/articles/PMC3208626/
Autor:
Elizabeth McPherson, Michelle Clemens
Publikováno v:
Genetics in Medicine. 1:58
Despite the frequency of trisomy 13, information regarding the natural history is limited. The frequently cited pessimistic survival statistics are based on the large (over 200 cases) study of Magenis et al.which is now 30 years old. More recently a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::049e8a6cd3c9e4e0a636a1a83415aed9
https://doi.org/10.1097/00125817-199901000-00070
https://doi.org/10.1097/00125817-199901000-00070
