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Items: 11

Select item 70315891.

Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report

Michele A Tchio Tchoumba, Yan Bai, Runming Jin, Xianying Yu, Musa Male

Orthop Surg. 2020 Feb; 12(1): 333–336. Published online 2019 Dec 6. doi: 10.1111/os.12546

PMCID:: PMC7031589

Abstract Article PDF–1.6M

Select item 38531322.

SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

David A. Parry, Clare V. Logan, Alexander P.A. Stegmann, Zakia A. Abdelhamed, Alistair Calder, Shabana Khan, David T. Bonthron, Virginia Clowes, Eamonn Sheridan, Neeti Ghali, Albert E. Chudley, Angus Dobbie, Constance T.R.M. Stumpel, Colin A. Johnson

Am J Hum Genet. 2013 Dec 5; 93(6): 1135–1142. doi: 10.1016/j.ajhg.2013.10.027

PMCID:: PMC3853132

Abstract Article PDF–1.5M

Select item 37898083.

Genetic Architecture of Parallel Pelvic Reduction in Ninespine Sticklebacks

Takahito Shikano, Veronika N. Laine, Gábor Herczeg, Johanna Vilkki, Juha Merilä

G3 (Bethesda) 2013 Oct; 3(10): 1833–1842. Published online 2013 Oct 1. doi: 10.1534/g3.113.007237

PMCID:: PMC3789808

Abstract Article PDF–1.3M

Select item 34748824.

Differential changes in vascular mRNA levels between rat iliac and renal arteries produced by cessation of voluntary running

Jaume Padilla, Nathan T. Jenkins, Michael D. Roberts, Arturo A. Arce-Esquivel, Jeffrey S. Martin, M. Harold Laughlin, Frank W. Booth

Exp Physiol. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Exp Physiol. 2013 Jan; 98(1): 337–347. Published online 2012 Jun 18. doi: 10.1113/expphysiol.2012.066076

PMCID:: PMC3474882

Abstract Article PDF–1.4M

Select item 30616235.

Craniofacioskeletal Syndrome: An X-Linked Dominant Disorder With Early Lethality in Males

Roger E. Stevenson, Cam K. Brasington, Cindy Skinner, Richard J. Simensen, J. Edward Spence, Shelli Kesler, Allan L. Reiss, Charles E. Schwartz

Am J Med Genet A. Author manuscript; available in PMC 2011 Mar 21.

Published in final edited form as: Am J Med Genet A. 2007 Oct 1; 143A(19): 2321–2329. doi: 10.1002/ajmg.a.31928

PMCID:: PMC3061623

Abstract Article PDF–776K

Select item 26679786.

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L. Funari, Carlos A. Bacino, Mira B. Irons, Ingrid A. Holm, Laurie Sadler, Ericka B. Okenfuss, Annelies Janssens, Thomas Voets, David L. Rimoin, Ralph S. Lachman, Bernd Nilius, Daniel H. Cohn

Am J Hum Genet. 2009 Mar 13; 84(3): 307–315. doi: 10.1016/j.ajhg.2009.01.021