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Select item 70271951.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Article PDF–1.2M

Select item 69782292.

Candidate modifier genes for immune function in 22q11.2 deletion syndrome

Catherina T. Pinnaro, Travis Henry, Heather J. Major, Mrutyunjaya Parida, Lucy E. DesJardin, John R. Manak, Benjamin W. Darbro

Mol Genet Genomic Med. 2020 Jan; 8(1): e1057. Published online 2019 Dec 12. doi: 10.1002/mgg3.1057

PMCID:: PMC6978229

Article PDF–761K

Select item 69063213.

Frequencies of clinically important CYP2C19 and CYP2D6 alleles are graded across Europe

Jelena Petrović, Vesna Pešić, Volker M. Lauschke

Eur J Hum Genet. 2020 Jan; 28(1): 88–94. Published online 2019 Jul 29. doi: 10.1038/s41431-019-0480-8

PMCID:: PMC6906321

Article PDF–3.6M

Select item 67831714.

Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis

Danxia Peng, Ying Dai, Xuan Xu

Medicine (Baltimore) 2019 Oct; 98(40): e17359. Published online 2019 Oct 4. doi: 10.1097/MD.0000000000017359

PMCID:: PMC6783171

Article PDF–1.0M

Select item 67752735.

Parvalbumin Promoter Methylation Altered in Major Depressive Disorder

Benjamard Thaweethee-Sukjai, Sirijit Suttajit, Samur Thanoi, Caroline F. Dalton, Gavin P. Reynolds, Sutisa Nudmamud-Thanoi

Int J Med Sci. 2019; 16(9): 1207–1214. Published online 2019 Aug 14. doi: 10.7150/ijms.36131

PMCID:: PMC6775273

Article PDF–918K

Select item 67129646.

Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review

Ting Shen, Jing Hu, Yasi Jiang, Shuai Zhao, Caixiu Lin, Xinzhen Yin, Yaping Yan, Jiali Pu, Hsin-Yi Lai, Baorong Zhang

Front Neurol. 2019; 10: 915. Published online 2019 Aug 21. doi: 10.3389/fneur.2019.00915

PMCID:: PMC6712964

Article PDF–789K

Select item 67129227.

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl

Sakshi Jain, Himani Bhasin, Marta Romani, Enza maria valente, Suvasini Sharma

J Pediatr Neurosci. 2019 Apr-Jun; 14(2): 90–93. doi: 10.4103/jpn.JPN_91_18

PMCID:: PMC6712922

Article

Select item 67026878.

Different gene expression profiles in subcutaneous & visceral adipose tissues from Mexican patients with obesity

María D. Ronquillo, Alla Mellnyk, Noemí Cárdenas-Rodríguez, Emmanuel Martínez, David A. Comoto, Liliana Carmona-Aparicio, Norma E. Herrera, Eleazar Lara, Armando Pereyra, Esaú Floriano-Sánchez

Indian J Med Res. 2019 May; 149(5): 616–626. doi: 10.4103/ijmr.IJMR_1165_17

PMCID:: PMC6702687

Article PDF–1.3M

Select item 66887899.

Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact

Nutan V. Badgujar, Bhoomi V. Tarapara, Franky D. Shah

PLoS One. 2019; 14(8): e0220711. Published online 2019 Aug 9. doi: 10.1371/journal.pone.0220711

PMCID:: PMC6688789

Article PDF–1.0M

Select item 668761910.

Association of BCR/ABL transcript variants with different blood parameters and demographic features in Iraqi chronic myeloid leukemia patients

Mahmood S. Khazaal, Farqad B. Hamdan, Qasim S. Al‐Mayah

Mol Genet Genomic Med. 2019 Aug; 7(8): e809. Published online 2019 Jun 17. doi: 10.1002/mgg3.809

PMCID:: PMC6687619

Article PDF–541K

Select item 667828211.

Possible Involvement of Intracellular Calcium-Independent Phospholipase A₂ in the Release of Secretory Phospholipases from Mast Cells—Increased Expression in Ileal Mast Cells of Crohn’s Disease

Ulrika Christerson, Åsa V. Keita, Martin E. Winberg, Johan D. Söderholm, Christina Gustafson-Svärd

Cells. 2019 Jul; 8(7): 672. Published online 2019 Jul 3. doi: 10.3390/cells8070672

PMCID:: PMC6678282

Article PDF–3.7M

Select item 650301312.

Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China

Chan Zhang, Weiwei Guo, Yujing Cheng, Qi Li, Xin Yang, Run Dai, Linhao Zhu, Wanlu Chen

Mol Genet Genomic Med. 2019 May; 7(5): e574. Published online 2019 Apr 5. doi: 10.1002/mgg3.574

PMCID:: PMC6503013

Article PDF–1.2M

Select item 635596813.

PES1 promotes the occurrence and development of papillary thyroid cancer by upregulating the ERα/ERβ protein ratio

Yi-Bo Qiu, Ling-Yao Liao, Rong Jiang, Man Xu, Lin-Wan Xu, George G. Chen, Zhi-Min Liu

Sci Rep. 2019; 9: 1032. Published online 2019 Jan 31. doi: 10.1038/s41598-018-37648-7

PMCID:: PMC6355968

Article PDF–2.0M

Select item 635333814.

PLA2G6 ‐Associated Neurodegeneration: Report of a Novel Mutation in Two Siblings with Strikingly Different Clinical Presentation

Paula Pérez‐Torre, Alfonso Escobar Villalba, Pedro Martínez Ulloa, Michal Kawiorski, Adriano Jiménez‐Escrig, Eulalia Bazán, Rafael Gonzalo‐Gobernado, Antonio S. Herranz

Mov Disord Clin Pract. 2017 Jan-Feb; 4(1): 129–131. Published online 2016 Nov 4. doi: 10.1002/mdc3.12419