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Select item 37553751.

Brett T. Chiquet, Andrew C. Lidral, Samuel Stal, John B. Mulliken, Lina M. Moreno, Mauricio Arco-Burgos, Consuelo Valencia-Ramirez, Susan H. Blanton, Jacqueline T. Hecht

Hum Mol Genet. Author manuscript; available in PMC 2013 Aug 28.

Published in final edited form as: Hum Mol Genet. 2007 Sep 15; 16(18): 2241–2248. Published online 2007 Jul 5. doi: 10.1093/hmg/ddm176

Correction in:: Hum Mol Genet, volume 17 on page 1061

PMCID:: PMC3755375

Abstract Article PDF–1.1M

Select item 68399242.

Mice with a Deletion of Rsph1 Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype

Weining Yin, Alessandra Livraghi-Butrico, Patrick R. Sears, Troy D. Rogers, Kimberlie A. Burns, Barbara R. Grubb, Lawrence E. Ostrowski

Am J Respir Cell Mol Biol. 2019 Sep; 61(3): 312–321. doi: 10.1165/rcmb.2017-0387OC

PMCID:: PMC6839924

Abstract Article PDF–1.4M

Select item 66376063.

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė

BMC Med Genet. 2019; 20: 127. Published online 2019 Jul 17. doi: 10.1186/s12881-019-0859-y

PMCID:: PMC6637606

Abstract Article PDF–775K

Select item 63673384.

High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism

Catarina Inês Gonçalves, Filipa Marina Patriarca, José Maria Aragüés, Davide Carvalho, Fernando Fonseca, Sofia Martins, Olinda Marques, Bernardo Dias Pereira, José Martinez-de-Oliveira, Manuel Carlos Lemos

Sci Rep. 2019; 9: 1597. Published online 2019 Feb 7. doi: 10.1038/s41598-018-38178-y

PMCID:: PMC6367338

Abstract Article PDF–1.4M

Select item 109485595.

Molecular pathology in diagnosis and prognostication of head and neck tumors

Alena Skálová, Martina Bradová, Michael Michal, Jr., Elaheh Mosaieby, Natálie Klubíčková, Tomáš Vaněček, Ilmo Leivo

Virchows Arch. 2024; 484(2): 215–231. Published online 2024 Jan 13. doi: 10.1007/s00428-023-03731-2

PMCID:: PMC10948559

Abstract Article PDF–5.2M

Select item 61227756.

A neonate with marked prolonged mixed apneas and CHARGE syndrome: a case report

M. A. Riedijk, A. M. König-Jung, J. B. M. van Woensel, F. H. Kruisinga

J Med Case Rep. 2018; 12: 267. Published online 2018 Sep 4. doi: 10.1186/s13256-018-1748-2

PMCID:: PMC6122775

Abstract Article PDF–830K

Select item 58348667.

Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely

Christian Niederwanger, Silvia Lechner, Lisa König, Andreas R. Janecke, Claus Pototschnig, Beatrice Häussler, Sabine Scholl-Bürgi, Thomas Müller, Peter Heinz-Erian

Eur J Med Res. 2018; 23: 13. Published online 2018 Mar 2. doi: 10.1186/s40001-018-0312-2

PMCID:: PMC5834866

Abstract Article PDF–756K

Select item 57473118.

Choanal Atresia and Craniosynostosis: Development and Disease

Ms. Kate M. Lesciotto, Dr. Yann Heuzé, Dr. Ethylin Wang Jabs, Dr. Joseph M. Bernstein, Dr. Joan T. Richtsmeier

Plast Reconstr Surg. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Plast Reconstr Surg. 2018 Jan; 141(1): 156–168. doi: 10.1097/PRS.0000000000003928

PMCID:: PMC5747311

Abstract Article PDF–1.2M

Select item 57434609.

Epigenomic characterization of a p53-regulated 3p22.2 tumor suppressor that inhibits STAT3 phosphorylation via protein docking and is frequently methylated in esophageal and other carcinomas

Lili Li, Juan Xu, Guohua Qiu, Jianming Ying, Zhenfang Du, Tingxiu Xiang, Kai Yau Wong, Gopesh Srivastava, Xiao-Feng Zhu, Tony S Mok, Anthony TC Chan, Francis KL Chan, Richard F Ambinder, Qian Tao

Theranostics. 2018; 8(1): 61–77. Published online 2018 Jan 1. doi: 10.7150/thno.20893

Correction in:: Theranostics. 2022; 12(4): 1736–1737.

PMCID:: PMC5743460

Abstract Article PDF–3.7M

Select item 510238710.

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

CL Hale, AN Niederriter, GE Green, DM Martin

Am J Med Genet A. Author manuscript; available in PMC 2017 Feb 1.

Published in final edited form as: Am J Med Genet A. 2016 Feb; 170A(2): 344–354. Published online 2015 Nov 21. doi: 10.1002/ajmg.a.37435

PMCID:: PMC5102387

Abstract Article PDF–1.5M

Select item 417779811.

The substantial hospitalization burden of influenza in central China: surveillance for severe, acute respiratory infection, and influenza viruses, 2010–2012

Hongjie Yu, Jigui Huang, Yang Huai, Xuhua Guan, John Klena, Shali Liu, Youxing Peng, Hui Yang, Jun Luo, Jiandong Zheng, Maoyi Chen, Zhibin Peng, Nijuan Xiang, Xixiang Huo, Lin Xiao, Hui Jiang, Hui Chen, Yuzhi Zhang, Xuesen Xing, Zhen Xu, Zijian Feng, Faxian Zhan, Weizhong Yang, Timothy M Uyeki, Yu Wang, Jay K Varma

Influenza Other Respir Viruses. 2014 Jan; 8(1): 53–65. Published online 2013 Nov 10. doi: 10.1111/irv.12205

PMCID:: PMC4177798

Abstract Article PDF–641K

Select item 409884812.

CHARGE Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Non-Immunologic Phenotypic Features

Soma Jyonouchi, Donna M. McDonald-McGinn, Sherri Bale, Elaine H. Zackai, Kathleen E. Sullivan

Pediatrics. Author manuscript; available in PMC 2014 Jul 15.

Published in final edited form as: Pediatrics. 2009 May; 123(5): e871–e877. doi: 10.1542/peds.2008-3400

PMCID:: PMC4098848

Abstract Article PDF–54K

Select item 392458513.

The Role of CHD7 Mutations in Patients with Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Hyung-Goo Kim, Lawrence C. Layman

Mol Cell Endocrinol. Author manuscript; available in PMC 2014 Feb 14.

Published in final edited form as: Mol Cell Endocrinol. 2011 Oct 22; 346(0): 74–83. Published online 2011 Aug 2. doi: 10.1016/j.mce.2011.07.013

PMCID:: PMC3924585

Abstract Article PDF–2.8M

Select item 627576414.

The tumor supressor function of STGC3 and its reduced expression in nasopharyngeal carcinoma

Xiu-Sheng He, Min Deng, Shuai Yang, Zhi-Qiang Xiao, Qiao Luo, Zhi-min He, Bo Hu, Zhu-Chu Chen

Cell Mol Biol Lett. 2008 Sep; 13(3): 339–352. Published online 2008 Feb 29. doi: 10.2478/s11658-008-0006-9

PMCID:: PMC6275764

Summary PDF–640K

Select item 361601615.

MACC1 Down-Regulation Inhibits Proliferation and Tumourigenicity of Nasopharyngeal Carcinoma Cells through Akt/β-Catenin Signaling Pathway

Fengjiao Meng, Hui Li, Huijuan Shi, Qingxu Yang, Fenfen Zhang, Yang Yang, Lili Kang, Tiantian Zhen, Sujuan Dai, Yu Dong, Anjia Han

PLoS One. 2013; 8(4): e60821. Published online 2013 Apr 3. doi: 10.1371/journal.pone.0060821

PMCID:: PMC3616016

Abstract Article PDF–1.3M

Select item 357922216.

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

Michael E. Talkowski, Zehra Ordulu, Vamsee Pillalamarri, Carol B. Benson, Ian Blumenthal, Susan Connolly, Carrie Hanscom, Naveed Hussain, Shahrin Pereira, Jonathan Picker, Jill A. Rosenfeld, Lisa G. Shaffer, Louise E. Wilkins-Haug, James F. Gusella, Cynthia C. Morton

N Engl J Med. Author manuscript; available in PMC 2013 Jun 6.

Published in final edited form as: N Engl J Med. 2012 Dec 6; 367(23): 2226–2232. doi: 10.1056/NEJMoa1208594

PMCID:: PMC3579222

Abstract Article PDF–1.0M

Select item 357110617.

Bacterial and viral interactions within the nasopharynx contribute to the risk of acute otitis media

Aino Ruohola, Melinda M. Pettigrew, Laura Lindholm, Jari Jalava, Kati S. Räisänen, Raija Vainionpää, Matti Waris, Paula A. Tähtinen, Miia K. Laine, Elina Lahti, Olli Ruuskanen, Pentti Huovinen

J Infect. 2013 Mar; 66(3): 247–254. Published online 2012 Dec 22. doi: 10.1016/j.jinf.2012.12.002

PMCID:: PMC3571106

Abstract Article PDF–785K

Select item 355639318.

TISSUE SPECIFIC RESPONSES TO ABERRANT FGF SIGNALING IN COMPLEX HEAD PHENOTYPES

Neus Martínez-Abadías, Susan M. Motch, Talia L. Pankratz, Yingli Wang, Kristina Aldridge, Ethylin Wang Jabs, Joan T. Richtsmeier

Dev Dyn. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Dev Dyn. 2013 Jan; 242(1): 80–94. Published online 2012 Dec 5. doi: 10.1002/dvdy.23903

PMCID:: PMC3556393

Abstract Article PDF–5.3M

Select item 293333619.

Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans

Audrey C. Au, Paolo A. Hernandez, Ernest Lieber, Ali M. Nadroo, Yu-Ming Shen, Kevin A. Kelley, Bruce D. Gelb, George A. Diaz

Am J Hum Genet. 2010 Sep 10; 87(3): 436–444. doi: 10.1016/j.ajhg.2010.08.008

PMCID:: PMC2933336

Abstract Article PDF–990K

Select item 291335820.

CD137 Is Required for M Cell Functional Maturation but Not Lineage Commitment

En Hui Hsieh, Xiomara Fernandez, Jing Wang, Mary Hamer, Stephanie Calvillo, Michael Croft, Byoung S. Kwon, David D. Lo

Am J Pathol. 2010 Aug; 177(2): 666–676. doi: 10.2353/ajpath.2010.090811

PMCID:: PMC2913358

Abstract Article PDF–1.2M

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