PMC Articles for MedGen (Select 334588) - PMC

Select item 72005971.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al-Gazali, Natalie Canham, Victor Faundes, Frances Flinter, Jozef Hertecant, Muriel Holder-Espinasse, Brian Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M. Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard Trembath, David van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, Genomics England Research Consortium, Anne Barton, Susan J. Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka

Genet Med. 2020; 22(5): 867–877. Published online 2020 Jan 17. doi: 10.1038/s41436-019-0743-3

Correction in:: Genet Med. 2020; 22(5): 980.

PMCID:: PMC7200597

Abstract Article PDF–1.5M

Select item 31965972.

Agpat6—a Novel Lipid Biosynthetic Gene Required for Triacylglycerol Production in Mammary Epithelium

Anne P. Beigneux, Laurent Vergnes, Xin Qiao, Steven Quatela, Ryan Davis, Steven M. Watkins, Rosalind A. Coleman, Rosemary L. Walzem, Mark Philips, Karen Reue, Stephen G. Young

J Lipid Res. Author manuscript; available in PMC 2011 Oct 19.

Published in final edited form as: J Lipid Res. 2006 Apr; 47(4): 734–744. Published online 2006 Jan 31. doi: 10.1194/jlr.M500556-JLR200

PMCID:: PMC3196597

Abstract Article PDF–4.6M

Select item 29303533.

The ATP-Binding Cassette Transporter ABCA4: Structural and Functional Properties and Role in Retinal Disease

Yaroslav Tsybovsky, Robert S. Molday, Krzysztof Palczewski

Adv Exp Med Biol. Author manuscript; available in PMC 2010 Aug 31.

Published in final edited form as: Adv Exp Med Biol. 2010; 703: 105–125. doi: 10.1007/978-1-4419-5635-4_8

PMCID:: PMC2930353

Abstract Article PDF–1.7M

Select item 22895144.

Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain

J Cell Biol. 1992 Jul 1; 118(1): 203–212. doi: 10.1083/jcb.118.1.203

PMCID:: PMC2289514

Summary PDF–5.8M

Select item 10158505.

The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.

W G Cole, E Patterson, J Bonadio, P E Campbell, D W Fortune

J Med Genet. 1992 Feb; 29(2): 112–118. doi: 10.1136/jmg.29.2.112

PMCID:: PMC1015850

Summary Page Browse PDF–3.1M

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