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Select item 36459451.

Incorporating Genotype Uncertainties Into the Genotypic TDT for Main Effects and Gene-Environment Interactions

Margaret A. Taub, Holger Schwender, Terri H. Beaty, Thomas A. Louis, Ingo Ruczinski

Genet Epidemiol. Author manuscript; available in PMC 2013 Apr 29.

Published in final edited form as: Genet Epidemiol. 2012 Apr; 36(3): 225–234. doi: 10.1002/gepi.21615

PMCID:: PMC3645945

Abstract Article PDF–2.6M

Select item 36074642.

Tbx1 regulates oral epithelial adhesion and palatal development

Noriko Funato, Masataka Nakamura, James A. Richardson, Deepak Srivastava, Hiromi Yanagisawa

Hum Mol Genet. 2012 Jun 1; 21(11): 2524–2537. Published online 2012 Feb 27. doi: 10.1093/hmg/dds071

PMCID:: PMC3607464

Abstract Article PDF–867K

Select item 36081243.

Evidence of Gene-Environment Interaction for the RUNX2 Gene and Environmental Tobacco Smoke in Controlling the Risk of Cleft Lip with/without Cleft Palate

Tao Wu, M. Daniele Fallin, Min Shi, Ingo Ruczinski, Kung Yee, Liang, Jacqueline B. Hetmanski, Hong Wang, Roxann G. Ingersoll, Shangzhi Huang, Xiaoqian Ye, Yah-Huei Wu-Chou, Philip K. Chen, Ethylin Wang Jabs, Bing Shi, Richard Redett, Alan F. Scott, Jeffrey C. Murray, Mary L. Marazita, Ronald G. Munger, Terri H. Beaty

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2013 Mar 26.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2012 Feb; 94(2): 76–83. Published online 2012 Jan 12. doi: 10.1002/bdra.22885

PMCID:: PMC3608124

Abstract Article PDF–901K

Select item 36115184.

Scoliosis in Gordon's syndrome

A. Wild, N. Schillians, M. Kumar, S. Mehdian

Eur Spine J. 2001 Oct; 10(5): 458–460. Published online 2001 Mar 20. doi: 10.1007/s005860100265

PMCID:: PMC3611518

Summary PDF–59K

Select item 36156455.

Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans

Tanda Murray, Margaret A. Taub, Ingo Ruczinski, Alan F. Scott, Jacqueline B. Hetmanski, Holger Schwender, Poorav Patel, Tian Xiao Zhang, Ronald G. Munger, Allen J. Wilcox, Xiaoqian Ye, Hong Wang, Tao Wu, Yah Huei Wu-Chou, Bing Shi, Sun Ha Jee, Samuel Chong, Vincent Yeow, Jeffrey C. Murray, Mary L. Marazita, Terri H. Beaty

Genet Epidemiol. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Genet Epidemiol. 2012 May; 36(4): 392–399. Published online 2012 Apr 16. doi: 10.1002/gepi.21633

PMCID:: PMC3615645

Abstract Article PDF–1.1M

Select item 36171276.

Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts

Min Shi, Jeffrey C Murray, Mary L Marazita, Ronald G Munger, Ingo Ruczinski, Jacqueline B Hetmanski, Tao Wu, Tanda Murray, Richard J Redett, Allen J Wilcox, Rolv T Lie, Ethylin Wang Jabs, Yah Huei Wu-Chou, Philip K Chen, Hong Wang, Xiaoqian Ye, Vincent Yeow, Samuel S Chong, Bing Shi, Kaare Christensen, Alan F Scott, Poorav Patel, Felicia Cheah, Terri H Beaty

Am J Med Genet A. Author manuscript; available in PMC 2013 Apr 4.

Published in final edited form as: Am J Med Genet A. 2012 Apr; 0(4): 784–794. Published online 2012 Mar 14. doi: 10.1002/ajmg.a.35257

PMCID:: PMC3617127

Abstract Article PDF–3.2M

Select item 36173037.

Association between MSX1 SNPs and Nonsyndromic Cleft Lip with or without Cleft Palate in the Korean Population

Na Young Kim, Young Ho Kim, Ji Wan Park, Seung-Hak Baek

J Korean Med Sci. 2013 Apr; 28(4): 522–526. Published online 2013 Mar 27. doi: 10.3346/jkms.2013.28.4.522

PMCID:: PMC3617303

Abstract Article PDF–419K

Select item 36183148.

Systematic analysis of palatal transcriptome to identify cleft palate genes within TGFβ3-knockout mice alleles: RNA-Seq analysis of TGFβ3 Mice

Ferhat Ozturk, You Li, Xiujuan Zhu, Chittibabu Guda, Ali Nawshad

BMC Genomics. 2013; 14: 113. Published online 2013 Feb 20. doi: 10.1186/1471-2164-14-113

PMCID:: PMC3618314

Abstract Article PDF–1.6M

Select item 36187079.

Multiple non-syndromic odontogenic keratocysts in three siblings

Amit Nirwan, Sangeeta Panjab Wanjari, Rashmi Saikhedkar, Vinayak Karun

BMJ Case Rep. 2013; 2013: bcr2012007503. Published online 2013 Mar 15. doi: 10.1136/bcr-2012-007503

PMCID:: PMC3618707

Abstract Article PDF–394K

Select item 362782310.

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol Clericuzio, Joanne M. Drautz, Jill A. Rosenfeld, Lisa G. Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J. Harris, James F. Gusella, Eric C. Liao, Cynthia C. Morton

Hum Genet. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Hum Genet. 2013 May; 132(5): 537–552. Published online 2013 Jan 25. doi: 10.1007/s00439-013-1263-x

PMCID:: PMC3627823

Abstract Article PDF–1.7M

Select item 363489911.

Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Non-syndromic CL(P)

Azeez Butali, Satoshi Suzuki, Margaret E. Cooper, Adela M. Mansilla, Karen Cuenco, Elizabeth J Leslie, Yasushi Suzuki, Teruyuki Niimi, Masahiko Yamamoto, Gongorjav Ayanga, Tudevdorj Erkhembaatar, Hiroo Furukawa, Kumiko Fujiwawa, Hideto Imura, Aline L. Petrin, Nagato Natsume, Terri H. Beaty, Mary L. Marazita, Jeffery C. Murray

Am J Med Genet A. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Am J Med Genet A. 2013 May; 161(5): 965–972. Published online 2013 Mar 5. doi: 10.1002/ajmg.a.35749

PMCID:: PMC3634899

Abstract Article PDF–313K

Select item 364464112.

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay Burrage, Peter Turnpenny, Jorge Román Corona-Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler, Brendan H. Lee

Am J Hum Genet. 2013 May 2; 92(5): 781–791. doi: 10.1016/j.ajhg.2013.03.020

PMCID:: PMC3644641

Abstract Article PDF–1.3M

Select item 360649213.

A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts

Yah-Huei Wu-Chou, Lun-Jou Lo, Kuo-Ting Philip Chen, Chun-Shin Frank Chang, Yu-Ray Chen

BMC Med Genet. 2013; 14: 37. Published online 2013 Mar 20. doi: 10.1186/1471-2350-14-37

PMCID:: PMC3606492

Abstract Article PDF–171K

Select item 365038414.

TGF-β-activated Kinase 1 (Tak1) Mediates Agonist-induced Smad Activation and Linker Region Phosphorylation in Embryonic Craniofacial Neural Crest-derived Cells

Kenji Yumoto, Penny S. Thomas, Jamie Lane, Kouichi Matsuzaki, Maiko Inagaki, Jun Ninomiya-Tsuji, Gregory J. Scott, Manas K. Ray, Mamoru Ishii, Robert Maxson, Yuji Mishina, Vesa Kaartinen

J Biol Chem. 2013 May 10; 288(19): 13467–13480. Published online 2013 Apr 1. doi: 10.1074/jbc.M112.431775

PMCID:: PMC3650384

Abstract Article PDF–4.6M

Select item 365083015.

Associated Anomalies among Infants with Oral Clefts at Birth and during a 1 year Follow-up

Monica Rittler, Viviana Cosentino, Jorge S López-Camelo, Jeffrey C Murray, George Wehby, Eduardo E Castilla

Am J Med Genet A. Author manuscript; available in PMC 2013 May 10.

Published in final edited form as: Am J Med Genet A. 2011 Jul; 0(7): 1588–1596. Published online 2011 Jun 10. doi: 10.1002/ajmg.a.34046

PMCID:: PMC3650830

Abstract Article PDF–67K

Select item 366018116.

Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate

Sibele Nascimento de Aquino, Ana Camila Messetti, Elizabete Bagordakis, Hercílio Martelli-Júnior, Mario Sergio Oliveira Swerts, Edgard Graner, Ricardo D Coletta

BMC Med Genet. 2013; 14: 53. Published online 2013 May 16. doi: 10.1186/1471-2350-14-53

PMCID:: PMC3660181

Abstract Article PDF–685K

Select item 366119917.

Roles of BMP Signaling Pathway in Lip and Palate Development

Carolina Parada, Yang Chai

Front Oral Biol. Author manuscript; available in PMC 2013 May 22.

Published in final edited form as: Front Oral Biol. 2012; 16: 60–70. Published online 2012 Jun 25. doi: 10.1159/000337617

PMCID:: PMC3661199

Abstract Article PDF–299K

Select item 366886618.

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population

Lívia M. Paranaíba, Sibele N. de Aquino, Andreia Bufalino, Hercílio Martelli-Júnior, Edgard Graner, Luciano A. Brito, Maria R. Passos-Bueno, Ricardo-D. Coletta, Mário S. Swerts

Med Oral Patol Oral Cir Bucal. 2013 May; 18(3): e414–e420. Published online 2013 Mar 25. doi: 10.4317/medoral.18357

PMCID:: PMC3668866

Abstract Article PDF–484K

Select item 367481819.

Mosaicism in Stickler syndrome

David A. Stevenson, Rena Vanzo, Kristy Damjanovich, Heather Hanson, Harlan Muntz, Robert O. Hoffman, Pinar Bayrak-Toydemir

Eur J Med Genet. Author manuscript; available in PMC 2013 Jun 6.

Published in final edited form as: Eur J Med Genet. 2012 Jun; 55(0): 418–422. Published online 2012 Mar 30. doi: 10.1016/j.ejmg.2012.03.006

PMCID:: PMC3674818

Abstract Article PDF–1.5M

Select item 367959520.

The origin recognition complex in human diseases

Zhen Shen

Biosci Rep. 2013; 33(3): e00044. Prepublished online 2013 May 13. Published online 2013 Jun 11. doi: 10.1042/BSR20130036

PMCID:: PMC3679595

Abstract Article PDF–436K

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