PMC Articles for MedGen (Select 340809) - PMC

Mohammad Al-Haggar, Agnieszka Madej-Pilarczyk, Lukasz Kozlowski, Janusz M Bujnicki, Sohier Yahia, Dina Abdel-Hadi, Amany Shams, Nermin Ahmad, Sahar Hamed, Monika Puzianowska-Kuznicka

Eur J Hum Genet. 2012 Nov; 20(11): 1134–1140. Published online 2012 May 2. doi: 10.1038/ejhg.2012.77

PMCID:: PMC3476705

Abstract Article PDF–1.3M

Select item 32216784.

Polymorphisms in Genes Involved in the NF-κB Signalling Pathway Are Associated with Bone Mineral Density, Geometry and Turnover in Men

Delnaz Roshandel, Wendy Thomson, Stephen R. Pye, Steven Boonen, Herman Borghs, Dirk Vanderschueren, Ilpo T. Huhtaniemi, Judith E. Adams, Kate A. Ward, Gyorgy Bartfai, Felipe F. Casanueva, Joseph D. Finn, Gianni Forti, Aleksander Giwercman, Thang S. Han, Krzysztof Kula, Michael E. Lean, Neil Pendleton, Margus Punab, Frederick C. Wu, Kate L. Holliday, Terence W. O'Neill, the EMAS Study Group

PLoS One. 2011; 6(11): e28031. Published online 2011 Nov 21. doi: 10.1371/journal.pone.0028031

PMCID:: PMC3221678

Abstract Article PDF–162K

Select item 31780855.

Comprehensive Skeletal Phenotyping and Linkage Mapping in an Intercross of Recombinant Congenic Mouse Strains HcB-8 and HcB-23

Neema Saless, Suzanne J. Litscher, Meghan J. Houlihan, In Kyu Han, Derek Wilson, Peter Demant, Robert D. Blank

Cells Tissues Organs. 2011 Aug; 194(2-4): 244–248. Published online 2011 May 30. doi: 10.1159/000324774

PMCID:: PMC3178085

Abstract Article PDF–207K

Select item 30616236.

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 29878377.

Genome-Wide Association Meta-Analysis of Cortical Bone Mineral Density Unravels Allelic Heterogeneity at the RANKL Locus and Potential Pleiotropic Effects on Bone

Lavinia Paternoster, Mattias Lorentzon, Liesbeth Vandenput, Magnus K. Karlsson, Östen Ljunggren, Andreas Kindmark, Dan Mellstrom, John P. Kemp, Caroline E. Jarett, Jeff M. P. Holly, Adrian Sayers, Beate St. Pourcain, Nicholas J. Timpson, Panos Deloukas, George Davey Smith, Susan M. Ring, David M. Evans, Jon H. Tobias, Claes Ohlsson

PLoS Genet. 2010 Nov; 6(11): e1001217. Published online 2010 Nov 18. doi: 10.1371/journal.pgen.1001217

PMCID:: PMC2987837

Abstract Article PDF–470K

Select item 29873418.

Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3–13.1

Mira Genzer-Nir, Morad Khayat, Leonid Kogan, Hector I Cohen, Miriam Hershkowitz, Dan Geiger, Tzipora C Falik-Zaccai

Eur J Hum Genet. 2010 Jun; 18(6): 662–667. Published online 2010 Feb 10. doi: 10.1038/ejhg.2009.236

PMCID:: PMC2987341

Abstract Article PDF–427K

Select item 26820289.

Cholesterol Metabolism: the Main Pathway Acting Downstream of Cytochrome P450 Oxidoreductase in Skeletal Development of the Limb

Katy Schmidt, Catherine Hughes, J. A. Chudek, Simon R. Goodyear, Richard M. Aspden, Richard Talbot, Thomas E. Gundersen, Rune Blomhoff, Colin Henderson, C. Roland Wolf, Cheryll Tickle

Mol Cell Biol. 2009 May; 29(10): 2716–2729. Published online 2009 Mar 9. doi: 10.1128/MCB.01638-08

PMCID:: PMC2682028

Abstract Article PDF–2.6M

Select item 259805310.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Louise S Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Al‐Madani, Helen Firth, Mohammad Hassan Karimi‐Nejad, Chong Ae Kim, Kathryn Leask, Melissa Maisenbacher, Ellen Moran, John G Pappas, Paolo Prontera, Thomy de Ravel, Jean‐Pierre Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, L C Wilson, Ralph S Lachman, David L Rimoin, Daniel H Cohn, Deborah Krakow, Stephen P Robertson

J Med Genet. 2007 Feb; 44(2): 89–98. Published online 2006 Jun 26. doi: 10.1136/jmg.2006.043687

PMCID:: PMC2598053

Abstract Article PDF–1.0M

Select item 351129711.

Plasma proteomics shows an elevation of the anti-inflammatory protein APOA-IV in chronic equine laminitis

Samantha M Steelman, Bhanu P Chowdhary

BMC Vet Res. 2012; 8: 179. Published online 2012 Sep 27. doi: 10.1186/1746-6148-8-179

PMCID:: PMC3511297

Abstract Article PDF–366K

Select item 173540912.

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3

L Faivre, M Le Merrer, L Al-Gazali, M Ausems, P Bitoun, D Bacq, P Maroteaux, A Munnich, V Cormier-Daire

J Med Genet. 2003 Apr; 40(4): 282–284. doi: 10.1136/jmg.40.4.282

PMCID:: PMC1735409

Summary PDF–169K

Select item 123493613.

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

H.-J. Lüdecke, J. Schaper, P. Meinecke, P. Momeni, S. Groß, D. von Holtum, H. Hirche, M. J. Abramowicz, B. Albrecht, C. Apacik, H.-J. Christen, U. Claussen, K. Devriendt, E. Fastnacht, A. Forderer, U. Friedrich, T. H. J. Goodship, M. Greiwe, H. Hamm, R. C. M. Hennekam, G. K. Hinkel, M. Hoeltzenbein, H. Kayserili, F. Majewski, M. Mathieu, R. McLeod, A. T. Midro, U. Moog, T. Nagai, N. Niikawa, K. H. Ørstavik, E. Plöchl, C. Seitz, J. Schmidtke, L. Tranebjærg, M. Tsukahara, B. Wittwer, B. Zabel, G. Gillessen-Kaesbach, B. Horsthemke

Am J Hum Genet. 2001 Jan; 68(1): 81–91. Published online 2000 Dec 7. doi: 10.1086/316926