PMC Articles for MedGen (Select 321954) - PMC

Rui‐Chao Chai, Hao Yan, Song‐Yuan An, Bo Pang, Hui‐Yuan Chen, Quan‐Hua Mu, Ke‐Nan Zhang, Yao‐Wu Zhang, Yu‐Qing Liu, Xing Liu, Zheng Zhao, Tao Jiang, Yong‐Zhi Wang, Wen‐Qing Jia

Brain Pathol. 2023 Jul; 33(4): e13153. Published online 2023 Feb 7. doi: 10.1111/bpa.13153

PMCID:: PMC10307522

Abstract Article PDF–2.3M

Select item 101343615.

Pan‐cancer molecular analysis of EGFR large fragment deletion in the Asian population

Jun Pu, Huannan Guo, Ruoying Yu, Qiuxiang Ou, Hua Bao, Xue Wu, Sanyuan Tang, Qingyong Chang

Cancer Med. 2023 Apr; 12(7): 8083–8088. Published online 2023 Jan 9. doi: 10.1002/cam4.5603

PMCID:: PMC10134361

Abstract Article PDF–5.2M

Select item 99654486.

Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome

Michela Menghi, Ginevra Micangeli, Francesca Tarani, Carolina Putotto, Federica Pirro, Alessandro Mariani, Carla Petrella, Federica Pulvirenti, Bianca Cinicola, Fiorenza Colloridi, Luigi Tarani, Marco Fiore

Int J Mol Sci. 2023 Feb; 24(4): 4242. Published online 2023 Feb 20. doi: 10.3390/ijms24044242

PMCID:: PMC9965448

Abstract Article PDF–1.6M

Select item 90346817.

Phenotypic comparison of patients affected with DeSanto‐Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC

Cristina Toledo‐Gotor, Cristina García‐Muro, Alberto García‐Oguiza, Mª. Luisa Poch‐Olivé, Mª. Yolanda Ruiz‐del Prado, Elena Domínguez‐Garrido

Mol Genet Genomic Med. 2022 May; 10(5): e1910. Published online 2022 Mar 10. doi: 10.1002/mgg3.1910

PMCID:: PMC9034681

Abstract Article PDF–564K

Select item 77894048.

DSG2 expression is low in colon cancer and correlates with poor survival

Tingting Yang, Xuan Gu, Lizhou Jia, Jiaojiao Guo, Qi Tang, Jin Zhu, Wei Zhao, Zhenqing Feng

BMC Gastroenterol. 2021; 21: 7. Published online 2021 Jan 6. doi: 10.1186/s12876-020-01588-2

PMCID:: PMC7789404

Abstract Article PDF–1.4M

Select item 17344549.

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14

P. Lichtner, R. Konig, T. Hasegawa, H. Van Esch, T. Meitinger, S. Schuffenhauer

J Med Genet. 2000 Jan; 37(1): 33–37. doi: 10.1136/jmg.37.1.33

PMCID:: PMC1734454

Summary PDF–150K

Select item 454209810.

GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders

Matthias Griese, Ralf Zarbock, Ulrich Costabel, Jenna Hildebrandt, Dirk Theegarten, Michael Albert, Antonia Thiel, Andrea Schams, Joanna Lange, Katazyrna Krenke, Traudl Wesselak, Carola Schön, Matthias Kappler, Helmut Blum, Stefan Krebs, Andreas Jung, Carolin Kröner, Christoph Klein, Ilaria Campo, Maurizio Luisetti, Francesco Bonella

BMC Pulm Med. 2015; 15: 87. Published online 2015 Aug 12. doi: 10.1186/s12890-015-0083-2

PMCID:: PMC4542098

Abstract Article PDF–1.0M

Select item 555546311.

Duplication and Loss of Function of Genes Encoding RNA Polymerase III Subunit C4 Causes Hybrid Incompatibility in Rice

Giao Ngoc Nguyen, Yoshiyuki Yamagata, Yuko Shigematsu, Miyako Watanabe, Yuta Miyazaki, Kazuyuki Doi, Kosuke Tashiro, Satoru Kuhara, Hiroyuki Kanamori, Jianzhong Wu, Takashi Matsumoto, Hideshi Yasui, Atsushi Yoshimura

G3 (Bethesda) 2017 Aug; 7(8): 2565–2575. Published online 2017 Jun 7. doi: 10.1534/g3.117.043943

PMCID:: PMC5555463

Abstract Article PDF–1.6M

Select item 150541812.

Loss of Expression of Human Spectrin Src Homology Domain Binding Protein 1 is Associated with 10p Loss in Human Prostatic Adenocarcinoma

Jill A Macoska, Jiliu Xu, Dorota Ziemnicka, Tracy S Schwab, Mark A Rubin, Leszek Kotula

Neoplasia. 2001 Mar; 3(2): 99–104. doi: 10.1038/sj.neo.7900145

PMCID:: PMC1505418

Abstract Article PDF–1.9M

Select item 436912013.

Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

Bruno F. Gamba, Carla Rosenberg, Silvia Costa, Antonio Richieri-Costa, Lucilene A. Ribeiro-Bicudo

Mol Syndromol. 2015 Feb; 6(1): 39–43. Published online 2015 Jan 22. doi: 10.1159/000371404

PMCID:: PMC4369120

Abstract Article PDF–193K

Select item 795983414.

Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13–15.3 Region

Yu-qing Pan, Jian-hua Fu

Front Pediatr. 2021; 9: 603666. Published online 2021 Feb 25. doi: 10.3389/fped.2021.603666

PMCID:: PMC7959834

Abstract Article PDF–1.2M

Select item 388000315.

Spectrum of primary immunodeficiency disorders in Sri Lanka

Nilhan Rajiva de Silva, Sepali Gunawardena, Damayanthi Rathnayake, Geethani Devika Wickramasingha

Allergy Asthma Clin Immunol. 2013; 9(1): 50. Published online 2013 Dec 27. doi: 10.1186/1710-1492-9-50

PMCID:: PMC3880003

Abstract Article PDF–207K

Select item 857635816.

The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review

Simona Gatti, Giulia Gelzoni, Giulia N. Catassi, Carlo Catassi

Front Pediatr. 2021; 9: 742830. Published online 2021 Oct 26. doi: 10.3389/fped.2021.742830

PMCID:: PMC8576358

Abstract Article PDF–702K

Select item 354293517.

Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3)

R. Ruiz Esparza-Garrido, A.C. Velázquez-Wong, M.A. Araujo-Solís, J.C. Huicochea-Montiel, M.Á. Velázquez-Flores, F. Salamanca-Gómez, D.J. Arenas-Aranda

Mol Syndromol. 2012 Aug; 3(2): 82–88. Published online 2012 Jul 10. doi: 10.1159/000339639