PMC Articles for MedGen (Select 373417) - PMC

Select item 87098261.

Targeted deletion of keratin 8 in intestinal epithelial cells disrupts tissue integrity and predisposes to tumorigenesis in the colon

Carl-Gustaf A. Stenvall, Mina Tayyab, Tove J. Grönroos, Maria A. Ilomäki, Keijo Viiri, Karen M. Ridge, Lauri Polari, Diana M. Toivola

Cell Mol Life Sci. 2022 Jan; 79(1): 10. Published online 2021 Dec 24. doi: 10.1007/s00018-021-04081-5

PMCID:: PMC8709826

Article PDF–2.5M

Select item 84708522.

Treacher Collins Syndrome: Genetics, Clinical Features and Management

Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Krzysztof Dowgierd, Robert Śmigiel

Genes (Basel) 2021 Sep; 12(9): 1392. Published online 2021 Sep 9. doi: 10.3390/genes12091392

PMCID:: PMC8470852

Article PDF–20M

Select item 80771143.

Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients

Zhaoyu Pan, Hongen Xu, Bei Chen, Yongan Tian, Linlin Zhang, Sen Zhang, Danhua Liu, Huanfei Liu, Ruijun Li, Xinxin Hu, Jingyuan Guan, Wenxue Tang, Wei Lu

Mol Genet Genomic Med. 2021 Feb; 9(2): e1573. Published online 2020 Dec 17. doi: 10.1002/mgg3.1573

PMCID:: PMC8077114

Article PDF–1.2M

Select item 74843924.

Notch Signaling Mediates Differentiation in Barrett’s Esophagus and Promotes Progression to Adenocarcinoma

Bettina Kunze, Frederik Wein, Hsin-Yu Fang, Akanksha Anand, Theresa Baumeister, Julia Strangmann, Sophie Gerland, Jonas Ingermann, Natasha Stephens Münch, Maria Wiethaler, Vincenz Sahm, Ana Hidalgo Sastre, Sebastian Lange, Charles J Lightdale, Aqiba Bokhari, Gary W Falk, Richard A Friedman, Gregory G Ginsberg, Prasad G Iyer, Zhezhen Jin, Hiroshi Nakagawa, Carrie J Shawber, TheAnh Nguyen, William J. Raab, Piero Dalerba, Anil K Rustgi, Antonia R Sepulveda, Kenneth K Wang, Roland M Schmid, Timothy C. Wang, Julian A. Abrams, Michael Quante

Gastroenterology. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Gastroenterology. 2020 Aug; 159(2): 575–590. Published online 2020 Apr 20. doi: 10.1053/j.gastro.2020.04.033

PMCID:: PMC7484392

Article PDF–1.4M

Select item 58389745.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M. Kokitsu-Nakata, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Annette F. Baas, Corstiaan C. Breugem, Karen Duran, Maarten Massink, Patrick W. B. Derksen, Wilfred F. J. van IJcken, Leontine van Unen, Fernando Santos-Simarro, Pablo Lapunzina, Vera L. Gil-da Silva Lopes, Elaine Lustosa-Mendes, Max Krall, Anne Slavotinek, Victor Martinez-Glez, Jeroen Bakkers, Koen L. I. van Gassen, Annelies de Klein, Marie-José H. van den Boogaard, Gijs van Haaften

Eur J Hum Genet. 2018 Feb; 26(2): 210–219. Published online 2018 Jan 18. doi: 10.1038/s41431-017-0010-5

PMCID:: PMC5838974

Article PDF–2.6M

Select item 58237386.

Congenital Cavitary Optic Disc Anomaly and Axenfeld’s Anomaly in Wolf-Hirschhorn Syndrome: A Case Report and Review of the Literature

Mohsin H. Ali, Nathalie F. Azar, Vinay Aakalu, Felix Y. Chau, Javaneh Abbasian, Pete Setabutr, Irene H. Maumenee

Ophthalmic Genet. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Ophthalmic Genet. 2018 Apr; 39(2): 271–274. Published online 2017 Dec 4. doi: 10.1080/13816810.2017.1408850

PMCID:: PMC5823738

Article PDF–182K

Select item 56187067.

Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome

Oscar F. Chacón-Camacho, Nara Sobreira, Jing You, Raul E. Piña-Aguilar, Vanessa Villegas-Ruiz, Juan C. Zenteno

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 28.

Published in final edited form as: Am J Med Genet A. 2016 Jul; 170(7): 1934–1937. Published online 2016 May 3. doi: 10.1002/ajmg.a.37683

PMCID:: PMC5618706

Article PDF–442K

Select item 56020098.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Jacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, Marieke F van Dooren, A Jeannette M Hoogeboom, Christian Beetz, Sven Günther, Frank J Magielsen, Charlotte W Ockeloen, Maria A Ramos-Arroyo, Rolph Pfundt, Helger G Yntema, Peter J van der Spek, Philip Stanier, Dagmar Wieczorek, Andrew O M Wilkie, Ans M W van den Ouweland, Irene M J Mathijssen, Jane A Hurst

Eur J Hum Genet. 2017 Oct; 25(10): 1126–1133. Published online 2017 Jul 26. doi: 10.1038/ejhg.2017.107

PMCID:: PMC5602009

Article PDF–1.1M

Select item 50836509.

Congenital Arhinia: A Rare Case Report and Review of Literature

Uttam Mondal, Rameshwar Prasad

Indian J Otolaryngol Head Neck Surg. 2016 Dec; 68(4): 537–539. Published online 2016 Jul 8. doi: 10.1007/s12070-016-1009-x

PMCID:: PMC5083650

Article PDF–528K

Select item 452224410.

Characterization of ex vivo cultured limbal, conjunctival, and oral mucosal cells: A comparative study with implications in transplantation medicine

Kamesh Dhamodaran, Murali Subramani, Nallathambi Jeyabalan, Murugeswari Ponnalagu, Priyanka Chevour, Reshma Shetty, Himanshu Matalia, Rohit Shetty, Sabina Evan Prince, Debashish Das

Mol Vis. 2015; 21: 828–845. Published online 2015 Jul 31.

PMCID:: PMC4522244

Article PDF–5.1M

Select item 324306711.

Mandibulofacial Dysostosis in a Patient with a de novo 2;17 Translocation that Disrupts the HOXD Gene Cluster

David A. Stevenson, Steven B. Bleyl, Teresa Maxwell, Arthur R. Brothman, Sarah T. South

Am J Med Genet A. Author manuscript; available in PMC 2011 Dec 20.

Published in final edited form as: Am J Med Genet A. 2007 May 15; 143A(10): 1053–1059. doi: 10.1002/ajmg.a.31715

PMCID:: PMC3243067

Article PDF–1.9M

Select item 324064112.

MicroRNA-449a Overexpression, Reduced NOTCH1 Signals and Scarce Goblet Cells Characterize the Small Intestine of Celiac Patients

Marina Capuano, Laura Iaffaldano, Nadia Tinto, Donatella Montanaro, Valentina Capobianco, Valentina Izzo, Francesca Tucci, Giancarlo Troncone, Luigi Greco, Lucia Sacchetti

PLoS One. 2011; 6(12): e29094. Published online 2011 Dec 15. doi: 10.1371/journal.pone.0029094

Correction in:: PLoS One. 2012; 7(1): 10.1371/annotation/7db01dfd-e044-41df-b1a8-9256ae11e4e2.

PMCID:: PMC3240641

Article PDF–891K

Select item 131205913.

Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

H Konrad, J C Merriam, I S Jones

Trans Am Ophthalmol Soc. 1995; 93: 219–244. doi: 10.1016/s0002-9394(14)70557-4

PMCID:: PMC1312059

Article PDF–2.8M

Select item 105073414.

Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

E K Pivnick, G V Velagaleti, R S Wilroy, M E Smith, S R Rose, R E Tipton, A T Tharapel

J Med Genet. 1996 Sep; 33(9): 772–778. doi: 10.1136/jmg.33.9.772

PMCID:: PMC1050734

Article PDF–1.7M

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