PMC Links for OMIM (Select 606097) - PMC

Select item 56358531.

A PIGN Mutation Responsible for Multiple Congenital Anomalies–Hypotonia–Seizures Syndrome 1 (MCAHS1) in an Israeli–Arab Family

Morad Khayat, Joseph Mark Tilghman, Ilana Chervinsky, Lucia Zalman, Aravinda Chakravarti, Stavit A. Shalev

Am J Med Genet A. Author manuscript; available in PMC 2017 Oct 11.

Published in final edited form as: Am J Med Genet A. 2016 Jan; 170A(1): 176–182. Published online 2015 Sep 14. doi: 10.1002/ajmg.a.37375

PMCID:: PMC5635853

Abstract Article PDF–1.3M

Select item 48865522.

Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

Leah Fleming, Monica Lemmon, Natalie Beck, Maria Johnson, Weiyi Mu, David Murdock, Joann Bodurtha, Julie Hoover-Fong, Ronald Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh

Am J Med Genet A. Author manuscript; available in PMC 2016 May 31.

Published in final edited form as: Am J Med Genet A. 2016 Jan; 170A(1): 77–86. Published online 2015 Sep 23. doi: 10.1002/ajmg.a.37369

PMCID:: PMC4886552

Abstract Article PDF–626K

Select item 46360553.

Replication stress links structural and numerical cancer chromosomal instability

Rebecca A. Burrell, Sarah E. McClelland, David Endesfelder, Petra Groth, Marie-Christine Weller, Nadeem Shaikh, Enric Domingo, Nnennaya Kanu, Sally M. Dewhurst, Eva Gronroos, Su Kit Chew, Andrew J. Rowan, Arne Schenk, Michal Sheffer, Michael Howell, Maik Kschischo, Axel Behrens, Thomas Helleday, Jiri Bartek, Ian P. Tomlinson, Charles Swanton

Nature. Author manuscript; available in PMC 2015 Nov 6.

Published in final edited form as: Nature. 2013 Feb 28; 494(7438): 492–496. doi: 10.1038/nature11935

Correction in:: volume 500 on page 490

PMCID:: PMC4636055

Abstract Article PDF–1.9M

Select item 251924.

MCD4 Encodes a Conserved Endoplasmic Reticulum Membrane Protein Essential for Glycosylphosphatidylinositol Anchor Synthesis in Yeast

Erin C. Gaynor, Guillaume Mondésert, Stephen J. Grimme, Steve I. Reed, Peter Orlean, Scott D. Emr

Mol Biol Cell. 1999 Mar; 10(3): 627–648. doi: 10.1091/mbc.10.3.627

PMCID:: PMC25192

Abstract Article PDF–1.0M

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