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Select item 33286421.

Diverse functional networks of Tbx3 in development and disease

Andrew J. Washkowitz, Svetlana Gavrilov, Salma Begum, Virginia E. Papaioannou

Wiley Interdiscip Rev Syst Biol Med. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Wiley Interdiscip Rev Syst Biol Med. 2012 May; 4(3): 273–283. Published online 2012 Feb 14. doi: 10.1002/wsbm.1162

PMCID:: PMC3328642

Abstract Article PDF–1.5M

Select item 31935732.

PATHOGENESIS-BASED THERAPY REVERSES CUTANEOUS ABNORMALITIES IN AN INHERITED DISORDER OF DISTAL CHOLESTEROL METABOLISM

Amy S. Paller, Maurice A. M. van Steensel, Marina Rodriguez-Martín, Jennifer Sorrell, Candrice Heath, Debra Crumrine, Michel van Geel, Antonio Noda Cabrera, Peter M. Elias

J Invest Dermatol. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: J Invest Dermatol. 2011 Nov; 131(11): 2242–2248. Published online 2011 Jul 14. doi: 10.1038/jid.2011.189

PMCID:: PMC3193573

Abstract Article PDF–1.0M

Select item 31981523.

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

Christine M Armour, Dennis E Bulman, Olga Jarinova, Richard Curtis Rogers, Kate B Clarkson, Barbara R DuPont, Alka Dwivedi, Frank O Bartel, Laura McDonell, Charles E Schwartz, Kym M Boycott, David B Everman, Gail E Graham

Eur J Hum Genet. 2011 Nov; 19(11): 1144–1151. Published online 2011 Jun 1. doi: 10.1038/ejhg.2011.97

PMCID:: PMC3198152

Abstract Article PDF–670K

Select item 32001184.

Matrix Gla Protein Polymorphism, But Not Concentrations, Is Associated with Radiographic Hand Osteoarthritis

DEVYANI MISRA, SARAH L. BOOTH, MICHAEL D. CROSIER, JOSE M. ORDOVAS, DAVID T. FELSON, TUHINA NEOGI

J Rheumatol. Author manuscript; available in PMC 2012 Sep 1.

Published in final edited form as: J Rheumatol. 2011 Sep; 38(9): 1960–1965. Published online 2011 Jul 1. doi: 10.3899/jrheum.100985

PMCID:: PMC3200118

Abstract Article PDF–551K

Select item 10134465.

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.

V Ventruto, R Di Girlamo, B Festa, A Romano, G Sebastio, L Sebastio

J Med Genet. 1976 Oct; 13(5): 394–398. doi: 10.1136/jmg.13.5.394

PMCID:: PMC1013446

Summary Page Browse PDF–1.5M

Select item 32343666.

Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

Byung-Joo Min, Namshin Kim, Taesu Chung, Ok-Hwa Kim, Gen Nishimura, Chin Youb Chung, Hae Ryong Song, Hyun Woo Kim, Hye Ran Lee, Jiwoong Kim, Tae-Hoon Kang, Myung-Eui Seo, San-Deok Yang, Do-Hwan Kim, Seung-Bok Lee, Jong-Il Kim, Jeong-Sun Seo, Ji-Yeob Choi, Daehee Kang, Dongsup Kim, Woong-Yang Park, Tae-Joon Cho

Am J Hum Genet. 2011 Dec 9; 89(6): 760–766. doi: 10.1016/j.ajhg.2011.10.015

PMCID:: PMC3234366

Abstract Article PDF–549K

Select item 32537277.

Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects

Robert J Pignolo, Eileen M Shore, Frederick S Kaplan

Orphanet J Rare Dis. 2011; 6: 80. Published online 2011 Dec 1. doi: 10.1186/1750-1172-6-80

PMCID:: PMC3253727

Abstract Article PDF–2.2M

Select item 32766598.

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, Brendan H. Lee

Am J Hum Genet. 2012 Feb 10; 90(2): 282–289. doi: 10.1016/j.ajhg.2011.11.023

PMCID:: PMC3276659

Abstract Article PDF–1.1M

Select item 32784989.

Putative Function of TAP63α during Endochondral Bone Formation

Feifei Li, Yaojuan Lu, Ming Ding, Guojun Wu, Satrajit Sinha, Siying Wang, Qiping Zheng

Gene. Author manuscript; available in PMC 2013 Mar 10.

Published in final edited form as: Gene. 2012 Mar 10; 495(2): 95–103. Published online 2012 Jan 5. doi: 10.1016/j.gene.2011.12.057

PMCID:: PMC3278498

Abstract Article PDF–2.7M

Select item 329875210.

Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype

Bridget C. O’Connor, Erica L. Macke, Catherine E. Keegan

Mamm Genome. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Mamm Genome. 2011 Dec; 22(11-12): 714–721. Published online 2011 Oct 22. doi: 10.1007/s00335-011-9360-4

PMCID:: PMC3298752

Abstract Article PDF–640K

Select item 329875311.

Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis

Christopher N. Vlangos, Bridget C. O’Connor, Madeleine J. Morley, Andrea S. Krause, Gail A. Osawa, Catherine E. Keegan

Dev Biol. Author manuscript; available in PMC 2012 Mar 11.

Published in final edited form as: Dev Biol. 2009 Oct 15; 334(2): 418–428. Published online 2009 Aug 3. doi: 10.1016/j.ydbio.2009.07.038

PMCID:: PMC3298753

Abstract Article PDF–2.4M

Select item 331379712.

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

Alyson Ashe, Natalie C. Butterfield, Liam Town, Andrew D. Courtney, Ashley N. Cooper, Charles Ferguson, Rachael Barry, Fredrik Olsson, Karel F. Liem, Jr, Robert G. Parton, Brandon J. Wainwright, Kathryn V. Anderson, Emma Whitelaw, Carol Wicking

Hum Mol Genet. 2012 Apr 15; 21(8): 1808–1823. Published online 2012 Jan 6. doi: 10.1093/hmg/ddr613

PMCID:: PMC3313797

Abstract Article PDF–740K

Select item 332246513.

Growth of Limb Muscle is Dependent on Skeletal-Derived Indian Hedgehog

Yvette Bren-Mattison, Melissa Hausburg, Bradley B. Olwin

Dev Biol. Author manuscript; available in PMC 2012 Aug 15.

Published in final edited form as: Dev Biol. 2011 Aug 15; 356(2): 486–495. Published online 2011 Jun 13. doi: 10.1016/j.ydbio.2011.06.002

PMCID:: PMC3322465

Abstract Article PDF–3.7M

Select item 101366914.

Familial radioulnar synostosis.

R A Spritz

J Med Genet. 1978 Apr; 15(2): 160–162. doi: 10.1136/jmg.15.2.160

PMCID:: PMC1013669

Summary Page Browse PDF–547K

Select item 332955115.

Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance

Julia Zimmer, Sandra C. Doelken, Denise Horn, Jay C. Groppe, Eileen M. Shore, Frederick S. Kaplan, Petra Seemann

PLoS One. 2012; 7(4): e35062. Published online 2012 Apr 18. doi: 10.1371/journal.pone.0035062

PMCID:: PMC3329551

Abstract Article PDF–386K

Select item 335526016.

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Eva Klopocki, Christian Kähler, Nicola Foulds, Hitesh Shah, Benjamin Joseph, Hermann Vogel, Sabine Lüttgen, Rainer Bald, Regina Besoke, Karsten Held, Stefan Mundlos, Ingo Kurth

Eur J Hum Genet. 2012 Jun; 20(6): 705–708. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.264

PMCID:: PMC3355260

Abstract Article PDF–331K

Select item 336061217.

Bmp2, Bmp4 and Bmp7 Are Co-Required in the Mouse AER for Normal Digit Patterning but Not Limb Outgrowth

Kyung-Suk Choi, Chanmi Lee, Danielle M. Maatouk, Brian D. Harfe

PLoS One. 2012; 7(5): e37826. Published online 2012 May 25. doi: 10.1371/journal.pone.0037826

PMCID:: PMC3360612

Abstract Article PDF–3.4M

Select item 337475418.

The ulnar-mammary syndrome gene, Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development

Reyna Deeya Ballim, Cathy Mendelsohn, Virginia E. Papaioannou, Sharon Prince

Mol Biol Cell. 2012 Jun 15; 23(12): 2362–2372. doi: 10.1091/mbc.E11-09-0790

PMCID:: PMC3374754

Abstract Article PDF–1.4M

Select item 341208319.

FGFR2 Mutation Confers a Less Drastic Gain of Function in Mesenchymal Stem Cells Than in Fibroblasts

Erika Yeh, Rodrigo Atique, Felipe A. A. Ishiy, Roberto Dalto Fanganiello, Nivaldo Alonso, Hamilton Matushita, Katia Maria da Rocha, Maria Rita Passos-Bueno

Stem Cell Rev. 2012; 8(3): 685–695. Published online 2011 Nov 3. doi: 10.1007/s12015-011-9327-6

Correction in:: Stem Cell Rev. 2013; 9: 875.

PMCID:: PMC3412083

Abstract Article PDF–501K

Select item 342406720.

Neogenin regulates Sonic hedgehog pathway activity during digit patterning

Mingi Hong, Karen A. Schachter, Guoying Jiang, Robert S. Krauss

Dev Dyn. Author manuscript; available in PMC 2013 Mar 1.

Published in final edited form as: Dev Dyn. 2012 Mar; 241(3): 627–637. doi: 10.1002/dvdy.23745

PMCID:: PMC3424067

Abstract Article PDF–3.8M

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DC174707 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st5p18...
DC174707 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st5p18 5', mRNA sequence
gi|119155610|gnl|dbEST|43420084|dbj 4707.1|

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