PMC Articles for MedGen (Select 1616382) - PMC

Select item 70571291.

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone

Mol Genet Genomic Med. 2020 Mar; 8(3): e1064. Published online 2020 Jan 14. doi: 10.1002/mgg3.1064

PMCID:: PMC7057129

Abstract Article PDF–592K

Select item 54182052.

Zhongxi Yang, Heechul Jun, Chan‐II Choi, Ki Hyun Yoo, Chang Hoon Cho, Syed Mohammed Qasim Hussaini, Ambrosia J. Simmons, Seonhee Kim, Jan M. van Deursen, Darren J. Baker, Mi‐Hyeon Jang

Aging Cell. 2017 Jun; 16(3): 598–601. Published online 2017 Apr 6. doi: 10.1111/acel.12594

PMCID:: PMC5418205

Abstract Article PDF–1.9M

Select item 37852943.

p21 Both Attenuates and Drives Senescence and Aging in BubR1 Progeroid Mice

Darren J. Baker, Robbyn L. Weaver, Jan M. van Deursen

Cell Rep. Author manuscript; available in PMC 2014 Apr 25.

Published in final edited form as: Cell Rep. 2013 Apr 25; 3(4): 1164–1174. Published online 2013 Apr 18. doi: 10.1016/j.celrep.2013.03.028

PMCID:: PMC3785294

Abstract Article PDF–1.9M

Select item 36062814.

Confirmation of the Reported Association of Clonal Chromosomal Mosaicism with an Increased Risk of Incident Hematologic Cancer

Ursula M. Schick, Andrew McDavid, Paul K. Crane, Noah Weston, Kelly Ehrlich, Katherine M. Newton, Robert Wallace, Ebony Bookman, Tabitha Harrison, Aaron Aragaki, David R. Crosslin, Sophia S. Wang, Alex P. Reiner, Rebecca D. Jackson, Ulrike Peters, Eric B. Larson, Gail P. Jarvik, Christopher S. Carlson

PLoS One. 2013; 8(3): e59823. Published online 2013 Mar 22. doi: 10.1371/journal.pone.0059823

PMCID:: PMC3606281

Abstract Article PDF–959K

Select item 35353415.

Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage

Shawn L. Chavez, Kevin E. Loewke, Jinnuo Han, Farshid Moussavi, Pere Colls, Santiago Munne, Barry Behr, Renee A. Reijo Pera

Nat Commun. 2012 Dec 4; 3: 1251. Published online 2012 Dec 4. doi: 10.1038/ncomms2249

PMCID:: PMC3535341

Abstract Article PDF–3.2M

Select item 29643776.

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a non-affected mosaic parent: molecular analysis and ethical implications

Aline L. Petrin, Sandra Daack-Hirsch, Jamie L’Heureux, Jeffrey C Murray

Cleft Palate Craniofac J. Author manuscript; available in PMC 2011 Mar 10.

Published in final edited form as: Cleft Palate Craniofac J. 2011 Mar; 48(2): 222–230. Published online 2010 May 4. doi: 10.1597/09-149

PMCID:: PMC2964377

Abstract Article PDF–1.0M

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