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Select item 34848761.

Reduced bone morphogenetic protein receptor type 1A signaling in neural-crest-derived cells causes facial dysmorphism

Hiromitsu Saito, Ken-ichi Yamamura, Noboru Suzuki

Dis Model Mech. 2012 Nov; 5(6): 948–955. Published online 2012 Jul 5. doi: 10.1242/dmm.009274

PMCID:: PMC3484876

Abstract Article

Select item 27758352.

Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development

Zsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorovic, Lior Zilberberg, Jiwon Choi, Carla Sens, Chester W. Brown, Robin D. Clark, Kristen E. Holland, Michael Marble, Lynn Y. Sakai, Branka Dabovic, Daniel B. Rifkin, Elaine C. Davis

Am J Hum Genet. 2009 Nov 13; 85(5): 593–605. doi: 10.1016/j.ajhg.2009.09.013

PMCID:: PMC2775835

Abstract Article PDF–1.3M

Select item 27995463.

Severe Cleidocranial dysplasia and Hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2

Areeg H. El-Gharbawy, Joseph N. Peeden, Ralph S. Lachman, John M. Graham, Stephen R. Moore, David L. Rimoin

Am J Med Genet A. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Am J Med Genet A. 2010 Jan; 152A(1): 169–174. doi: 10.1002/ajmg.a.33146

PMCID:: PMC2799546

Abstract Article PDF–1.1M

Select item 28822344.

A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis

Barbara R. Pober, Mauro Longoni, Kristin M. Noonan

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2010 Jun 8.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2009 Jan; 85(1): 76–81. doi: 10.1002/bdra.20534

PMCID:: PMC2882234

Abstract Article PDF–58K

Select item 29653065.

Early Onset Mandibuloacral Dysplasia due to Compound Heterozygous Mutations in ZMPSTE24

Zahid Ahmad, Elaine Zackai, Livija Medne, Abhimanyu Garg

Am J Med Genet A. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Am J Med Genet A. 2010 Nov; 152A(11): 2703–2710. doi: 10.1002/ajmg.a.33664

PMCID:: PMC2965306

Abstract Article PDF–906K

Select item 29870256.

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

Wenke Seifert, Julia Beninde, Katrin Hoffmann, Tom H Lindner, Christian Bassir, Fuat Aksu, Christoph Hübner, Nienke E Verbeek, Stefan Mundlos, Denise Horn

Eur J Hum Genet. 2009 Dec; 17(12): 1570–1576. Published online 2009 Jul 1. doi: 10.1038/ejhg.2009.104

PMCID:: PMC2987025

Abstract Article PDF–336K

Select item 30056777.

Cleidocranial Dysplasia: A Case Report

Gülay Karagüzel, Filiz Azar Aktürk, Emelgül Okur, Halit Reşit Gümele, Yusuf Gedik, Ayşenur Ökten

J Clin Res Pediatr Endocrinol. 2010 Sep; 2(3): 134–136. Published online 2010 Aug 9. doi: 10.4274/jcrpe.v2i3.134

PMCID:: PMC3005677

Abstract Article PDF–133K

Select item 30616238.

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 31133179.

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

Yang Xue, Tao Cai, Songtao Shi, Weiguang Wang, Yanli Zhang, Tianqiu Mao, Xiaohong Duan

Orphanet J Rare Dis. 2011; 6: 20. Published online 2011 May 10. doi: 10.1186/1750-1172-6-20

PMCID:: PMC3113317

Abstract Article PDF–1.1M

Select item 266341710.

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

Smita M Purandare, Roberto Mendoza-Londono, Svetlana A Yatsenko, Dobrawa Napierala, Daryl A Scott, Tarek Sibai, Kari Casas, Patrick Wilson, Jiyun Lee, Razia Muneer, Joe C Leonard, Faridali G Ramji, Ralph Lachman, Shibo Li, Pawel Stankiewicz, Brendan Lee, John J Mulvihill

Am J Med Genet A. 2008 Feb 15; 146A(4): 453–458. doi: 10.1002/ajmg.a.31750

PMCID:: PMC2663417

Abstract Article PDF–296K

Select item 401419111.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil-Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, Jose C. Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén-Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krumina, Hane Lee, Kathleen Leppig, Sally Ann Lynch, Mark B. Mallozzi, Linda Mannini, Shane Mckee, Sarju G. Mehta, Ieva Micule, Care4Rare Canada Consortium, Shehla Mohammed, Ellen Moran, Geert R. Mortier, Joe-Ann S. Moser, Sarah E. Noon, Naohito Nozaki, Luis Nunes, John G. Pappas, Lynette S. Penney, Antonio Pérez-Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revencu, Elizabeth Roeder, Sulagna Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria M. Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick Willems, Kathleen Williamson, Louise C. Wilson, University of Washington Center for Mendelian Genomics, Hakon Hakonarson, Fabiola Quintero-Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen-Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, David W. Christianson, Ian D. Krantz, David R. Fitzpatrick, Matthew A. Deardorff

Hum Mol Genet. 2014 Jun 1; 23(11): 2888–2900. Published online 2014 Jan 8. doi: 10.1093/hmg/ddu002

PMCID:: PMC4014191

Abstract Article PDF–1.0M

Select item 405142212.

Pin1-mediated Runx2 modification is critical for skeletal development

Won-Joon Yoon, Rabia Islam, Young-Dan Cho, Kyung-Mi Woo, Jeong-Hwa Baek, Takafumi Uchida, Toshihisa Komori, Andre van Wijnen, Janet L. Stein, Jane B. Lian, Gary S. Stein, Je-Yong Choi, Suk-Chul Bae, Hyun-Mo Ryoo

J Cell Physiol. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: J Cell Physiol. 2013 Dec; 228(12): 2377–2385. doi: 10.1002/jcp.24403

PMCID:: PMC4051422

Abstract Article PDF–932K

Select item 406990913.

A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia

Ting Chen, Jin Hou, Ling-Ling Hu, Jie Gao, Bu-Ling Wu

Int J Clin Exp Pathol. 2014; 7(5): 2490–2495. Published online 2014 Apr 15.

PMCID:: PMC4069909

Abstract Article PDF–1.8M

Select item 412544614.

Runx2 is required for early stages of endochondral bone formation but delays final stages of bone repair in Axin2-deficient mice

Meghan E. McGee-Lawrence, Lomeli R. Carpio, Elizabeth W. Bradley, Amel Dudakovic, Jane B. Lian, Andre J. van Wijnen, Sanjeev Kakar, Wei Hsu, Jennifer J. Westendorf

Bone. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Bone. 2014 Sep; 66: 277–286. Published online 2014 Jun 25. doi: 10.1016/j.bone.2014.06.022

PMCID:: PMC4125446

Abstract Article PDF–1.5M

Select item 414338015.

Cranio-Lenticulo-Sutural Dysplasia associated with defects in collagen secretion

Simeon A. Boyadjiev, Sun-Don Kim, Abigail Hata, Chad Haldeman-Englert, Elaine H. Zackai, Cyrill Naydenov, Susan Hamamoto, Randy W. Schekman, Jinoh Kim

Clin Genet. Author manuscript; available in PMC 2014 Aug 25.

Published in final edited form as: Clin Genet. 2011 Aug; 80(2): 169–176. Published online 2010 Oct 12. doi: 10.1111/j.1399-0004.2010.01550.x

PMCID:: PMC4143380

Abstract Article PDF–1.1M

Select item 417008816.

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes

Alicia Cervantes, Constanza García-Delgado, Fernando Fernández-Ramírez, Carolina Galaz-Montoya, Ariadna Berenice Morales-Jiménez, Karem Nieto-Martínez, Laura Gómez-Laguna, Judith Villa-Morales, Mónica Quintana-Palma, Jaime Berúmen, Susana Kofman, Verónica F Morán-Barroso

BMC Med Genomics. 2014; 7: 55. Published online 2014 Sep 15. doi: 10.1186/1755-8794-7-55