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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 68889442.

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh

Orphanet J Rare Dis. 2019; 14: 277. Published online 2019 Dec 2. doi: 10.1186/s13023-019-1249-4

PMCID:: PMC6888944

Article PDF–991K

Select item 67855283.

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

Muhammad M. Rahman, KM Furkan Uddin, Nesreen K. Al Jezawi, Noushad Karuvantevida, Hosneara Akter, Nushrat J. Dity, Md. Ashiquir Rahaman, Maksuda Begum, Md. Atikur Rahaman, Md. Abdul Baqui, Zeena Salwa, Serajul Islam, Marc Woodbury‐Smith, Mohammed Basiruzzaman, Mohammed Uddin

Mol Genet Genomic Med. 2019 Oct; 7(10): e00954. Published online 2019 Sep 1. doi: 10.1002/mgg3.954

PMCID:: PMC6785528

Article PDF–830K

Select item 67322844.

Impact of CHRNA5 polymorphisms on the risk of schizophrenia in the Chinese Han population

Dafei Zhan, Qiankun Yao, Shaojian Fu, Xianglai Liu, Jun Zhou, Daqiang Chen, Chuanlong Yu

Mol Genet Genomic Med. 2019 Sep; 7(9): e869. Published online 2019 Jul 24. doi: 10.1002/mgg3.869

PMCID:: PMC6732284

Article PDF–575K

Select item 67322695.

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A. Bacino, Nicola Brunetti‐Pierri

Mol Genet Genomic Med. 2019 Sep; 7(9): e844. Published online 2019 Jul 27. doi: 10.1002/mgg3.844

PMCID:: PMC6732269

Article PDF–1.4M

Select item 67026876.

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

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Select item 66881247.

Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H₂O₂ Generation

Shiguo Liu, Wenxiu Han, Yucui Zang, Hongwei Zang, Fang Wang, Pei Jiang, Hongwei Wei, Xiangju Liu, Yangang Wang, Xu Ma, Yinlin Ge

Front Endocrinol (Lausanne) 2019; 10: 526. Published online 2019 Aug 2. doi: 10.3389/fendo.2019.00526

PMCID:: PMC6688124

Article PDF–5.7M

Select item 66251478.

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu

Mol Genet Genomic Med. 2019 Jul; 7(7): e00687. Published online 2019 Jun 14. doi: 10.1002/mgg3.687

PMCID:: PMC6625147

Article PDF–1.0M

Select item 63633619.

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region

Delanie B. Macedo, Monica M. França, Luciana R. Montenegro, Marina Cunha-Silva, Danielle S. Best, Ana Paula Abreu, Ursula B. Kaiser, Berenice B. Mendonca, Alexander A.L. Jorge, Vinicius N. Brito, Ana Claudia Latronico

Neuroendocrinology. Author manuscript; available in PMC 2019 Feb 5.

Published in final edited form as: Neuroendocrinology. 2018; 107(2): 127–132. Published online 2018 May 15. doi: 10.1159/000490059

PMCID:: PMC6363361

Article PDF–471K

Select item 632764110.

Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome

Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang

Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068

PMCID:: PMC6327641

Article PDF–3.7M

Select item 631182311.

Preserved Expression of Skin Neurotrophic Factors in Advanced Diabetic Neuropathy Does Not Lead to Neural Regeneration despite Pancreas and Kidney Transplantation

František Saudek, Monika Cahová, Terezie Havrdová, Klára Zacharovová, Helena Daňková, Luděk Voska, Věra Lánská, Nurcan Üçeyler, Claudia Sommer

J Diabetes Res. 2018; 2018: 2309108. Published online 2018 Dec 10. doi: 10.1155/2018/2309108

PMCID:: PMC6311823

Article PDF–914K

Select item 626085212.

EIF4A3-induced circular RNA MMP9 (circMMP9) acts as a sponge of miR-124 and promotes glioblastoma multiforme cell tumorigenesis

Renjie Wang, Sai Zhang, Xuyi Chen, Nan Li, Jianwei Li, Ruichao Jia, Yuanqing Pan, Haiqian Liang

Mol Cancer. 2018; 17: 166. Published online 2018 Nov 23. doi: 10.1186/s12943-018-0911-0

Correction in:: Mol Cancer. 2020; 19: 153.

PMCID:: PMC6260852

Article PDF–7.1M

Select item 619025613.

Integrated miRNA and mRNA expression profiling to identify mRNA targets of dysregulated miRNAs in pulmonary tuberculosis

Xing Zhang, Min Zhu, Xiaolong Hu

Epigenomics. 2018 Aug; 10(8): 1051–1069. Published online 2018 Jul 30. doi: 10.2217/epi-2018-0028

PMCID:: PMC6190256

Article PDF–3.9M

Select item 617617714.

Altered expression pattern of circular RNAs in metastatic oral mucosal melanoma

Houyu Ju, Liming Zhang, Lu Mao, Shuli Liu, Weiya Xia, Jingzhou Hu, Min Ruan, Guoxin Ren

Am J Cancer Res. 2018; 8(9): 1788–1800. Published online 2018 Sep 1.

PMCID:: PMC6176177

Article PDF–2.0M

Select item 616167315.

MiRNA-BD: an evidence-based bioinformatics model and software tool for microRNA biomarker discovery

Yuxin Lin, Wentao Wu, Zhandong Sun, Li Shen, Bairong Shen

RNA Biol. 2018; 15(8): 1093–1105. Published online 2018 Sep 17. doi: 10.1080/15476286.2018.1502590

PMCID:: PMC6161673

Article PDF–2.4M

Select item 616071316.

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader‐Willi male

Talia Eldar‐Geva, Varda Gross‐Tsur, Harry J. Hirsch, Gheona Altarescu, Reeval Segal, Sharon Zeligson, Eliahu Golomb, Silvina Epsztejn‐Litman, Rachel Eiges

Mol Genet Genomic Med. 2018 Sep; 6(5): 811–818. Published online 2018 Jul 12. doi: 10.1002/mgg3.448

PMCID:: PMC6160713

Article PDF–3.7M

Select item 609792717.

Genetic determinants of co-accessible chromatin regions in activated T cells across humans

Rachel E. Gate, Christine S. Cheng, Aviva P. Aiden, Atsede Siba, Marcin Tabaka, Dmytro Lituiev, Ido Machol, M. Grace Gordon, Meena Subramaniam, Muhammad Shamim, Kendrick L. Hougen, Ivo Wortman, Su-Chen Huang, Neva C. Durand, Ting Feng, Philip L. De Jager, Howard Y. Chang, Erez Lieberman Aiden, Christophe Benoist, Michael A. Beer, Chun J. Ye, Aviv Regev

Nat Genet. Author manuscript; available in PMC 2019 Jan 9.

Published in final edited form as: Nat Genet. 2018 Aug; 50(8): 1140–1150. Published online 2018 Jul 9. doi: 10.1038/s41588-018-0156-2

PMCID:: PMC6097927

Article PDF–1.3M

Select item 605971918.

Two rare missense mutations in the fibrillin-1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome

Miao Zhang, Yaqi Zhou, Yang Peng, Lijun Jin

Mol Med Rep. 2018 Jul; 18(1): 877–881. Published online 2018 May 22. doi: 10.3892/mmr.2018.9041

PMCID:: PMC6059719

Article PDF–1.5M

Select item 602124819.

Interferon-stimulated gene 20 kDa protein serum levels and clinical outcome of hepatitis B virus-related liver diseases

Hoang Van Tong, Nghiem Xuan Hoan, Mai Thanh Binh, Dao Thanh Quyen, Christian G. Meyer, Le Huu Song, Nguyen Linh Toan, Thirumalaisamy P. Velavan

Oncotarget. 2018 Jun 12; 9(45): 27858–27871. Published online 2018 Jun 12. doi: 10.18632/oncotarget.25559

PMCID:: PMC6021248

Article PDF–2.2M

Select item 599643120.

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

Mario Torrado, Emilia Maneiro, Juan Pablo Trujillo-Quintero, Arturo Evangelista, Alexander T. Mikhailov, Lorenzo Monserrat

Biomed Res Int. 2018; 2018: 3536495. Published online 2018 May 29. doi: 10.1155/2018/3536495

PMCID:: PMC5996431

Article PDF–1.3M

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