PMC Articles for MedGen (Select 41938) - PMC

David J. Davido, Eleain M. Tu, Hong Wang, Maria Korom, Andreu Gazquez Casals, P. Jahnu Reddy, Heba H. Mostafa, Benjamin Combs, Steve D. Haenchen, Lynda A. Morrison

J Virol. 2018 Sep 1; 92(17): e01036-18. Prepublished online 2018 Jun 27. Published online 2018 Aug 16. doi: 10.1128/JVI.01036-18

PMCID:: PMC6096795

Abstract Article PDF–2.3M

Select item 30666075.

Trichiasis Surgery in The Gambia: A 4-Year Prospective Study

Saul N. Rajak, Pateh Makalo, Ansumana Sillah, Martin J. Holland, David C. W. Mabey, Robin L. Bailey, Matthew J. Burton

Invest Ophthalmol Vis Sci. 2010 Oct; 51(10): 4996–5001. doi: 10.1167/iovs.10-5169

PMCID:: PMC3066607

Abstract Article PDF–76K

Select item 35273506.

Post-Operative Recurrent Trachomatous Trichiasis Is Associated with Increased Conjunctival Expression of S100A7 (Psoriasin)

Matthew J. Burton, Saul N. Rajak, Athumani Ramadhani, Helen A. Weiss, Esmael Habtamu, Baye Abera, Paul M. Emerson, Peng T. Khaw, David C. W. Mabey, Martin J. Holland, Robin L. Bailey

PLoS Negl Trop Dis. 2012 Dec; 6(12): e1985. Published online 2012 Dec 20. doi: 10.1371/journal.pntd.0001985

Correction in:: PLoS Negl Trop Dis. 2013 Sep; 7(9): 10.1371/annotation/e55f440e-5c3a-4a69-810c-cd41b69797bf.

PMCID:: PMC3527350

Abstract Article PDF–223K

Select item 35165917.

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, Alexandra Segref, Holger Thiele, Andrew Edwards, Mark J. Arends, Xavier Miró, Jacqueline K. White, Julie Désir, Marc Abramowicz, Maria Lisa Dentici, Francesca Lepri, Kay Hofmann, Adi Har-Zahav, Edward Ryder, Natasha A. Karp, Jeanne Estabel, Anna-Karin B. Gerdin, Christine Podrini, Neil J. Ingham, Janine Altmüller, Gudrun Nürnberg, Peter Frommolt, Sonia Abdelhak, Metsada Pasmanik-Chor, Osnat Konen, Richard I. Kelley, Mordechai Shohat, Peter Nürnberg, Jonathan Flint, Karen P. Steel, Thorsten Hoppe, Christian Kubisch, David J. Adams, Guntram Borck

Am J Hum Genet. 2012 Dec 7; 91(6): 998–1010. doi: 10.1016/j.ajhg.2012.10.011

PMCID:: PMC3516591

Abstract Article PDF–1.0M

Select item 34200538.

Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene

H Du, S R Grob, L Zhao, J Lee, M El-Sahn, G Hughes, J Luo, K Schaf, Y Duan, J Quach, X Wei, P Shaw, D Granet, K Zhang

Eye (Lond) 2012 Aug; 26(8): 1039–1043. Published online 2012 Jun 1. doi: 10.1038/eye.2012.80

PMCID:: PMC3420053

Abstract Article PDF–262K

Select item 33781669.

Knockout of Mkp-1 exacerbates colitis in Il-10-deficient mice

Ranyia Matta, John A. Barnard, Lyn M. Wancket, Jing Yan, Jianjing Xue, Jessica Grieves, W. Joshua Frazier, Leif Nelin, Andrew C. B. Cato, Yusen Liu

Am J Physiol Gastrointest Liver Physiol. 2012 Jun 1; 302(11): G1322–G1335. Published online 2012 Mar 29. doi: 10.1152/ajpgi.00018.2012

PMCID:: PMC3378166

Abstract Article

Select item 327665910.

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 327205211.

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

Alireza Haghighi, Hannah Verdin, Hamidreza Haghighi-Kakhki, Niloofar Piri, Nasrollah Saleh Gohari, Elfride De Baere

Mol Vis. 2012; 18: 211–218. Published online 2012 Jan 26.

PMCID:: PMC3272052

Abstract Article PDF–3.0M

Select item 321339912.

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate E. Chandler, Bronwyn Kerr, May Tassabehji, Sally-Ann Lynch, Malgorzata Krajewska-Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

Am J Hum Genet. 2011 Nov 11; 89(5): 675–681. doi: 10.1016/j.ajhg.2011.10.008

PMCID:: PMC3213399

Abstract Article PDF–538K

Select item 317993313.

Early onset sebaceous carcinoma

Dongjin Sung, Sara A Kaltreider, Federico Gonzalez-Fernandez

Diagn Pathol. 2011; 6: 81. Published online 2011 Sep 5. doi: 10.1186/1746-1596-6-81

PMCID:: PMC3179933

Abstract Article PDF–2.7M

Select item 313870014.

Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis

Yujin Zhang, Winston W.-Y. Kao, Emanuele Pelosi, David Schlessinger, Chia-Yang Liu

J Cell Sci. 2011 Aug 1; 124(15): 2561–2572. doi: 10.1242/jcs.085001

PMCID:: PMC3138700

Abstract Article

Select item 308856015.

Changes in Gene Expression in Human Meibomian Gland Dysfunction

Shaohui Liu, Stephen M. Richards, Kristine Lo, Mark Hatton, Aaron Fay, David A. Sullivan

Invest Ophthalmol Vis Sci. 2011 Apr; 52(5): 2727–2740. Published online 2011 Apr 25. doi: 10.1167/iovs.10-6482

PMCID:: PMC3088560

Abstract Article PDF–122K

Select item 359184516.

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg, Christian Gilissen, Fangjian Gao, Marloes van Zwam, Cornelis L. Harteveld, Anthonie J. van Essen, Ben C.J. Hamel, Tjitske Kleefstra, Michèl A.A.P. Willemsen, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner, Thomas G. Boyer, Arjan P.M. de Brouwer

Am J Hum Genet. 2013 Mar 7; 92(3): 401–406. doi: 10.1016/j.ajhg.2013.01.007

PMCID:: PMC3591845

Abstract Article PDF–554K

Select item 303820917.

Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

Shanshan Hu, Junjing Guo, Binbin Wang, Jing Wang, Zhou Zhou, Guangkai Zhou, Xuchen Ding, Xu Ma, Yanhua Qi

Mol Vis. 2011; 17: 436–442. Published online 2011 Feb 9.

PMCID:: PMC3038209

Abstract Article PDF–2.4M

Select item 302830318.

Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy

Mika H Martikainen, Reetta Hinttala, Kari Majamaa

BMJ Case Rep. 2010; 2010: bcr0120102604. Published online 2010 Sep 29. doi: 10.1136/bcr.01.2010.2604

PMCID:: PMC3028303

Abstract Article PDF–385K

Select item 302509919.

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families

Arif O. Khan, Jameela Shinwari, Aisha Omar, Latifa Al-Sharif, Dania S. Khalil, Mohammed Alanazi, Abdullah Al-Amri, Nada Al Tassan

Mol Vis. 2011; 17: 218–224. Published online 2011 Jan 20.

PMCID:: PMC3025099

Abstract Article PDF–881K

Select item 297896020.

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Asli Sirmaci, Tom Walsh, Hatice Akay, Michail Spiliopoulos, Yıldırım Bayezit Şakalar, Aylin Hasanefendioğlu-Bayrak, Duygu Duman, Amjad Farooq, Mary-Claire King, Mustafa Tekin

Am J Hum Genet. 2010 Nov 12; 87(5): 679–686. doi: 10.1016/j.ajhg.2010.09.018

PMCID:: PMC2978960

Abstract Article PDF–1000K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 199

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity