Full text in PMC (nucleotide) for Gene (Select 9681) - PMC

Links from Gene

Items: 1 to 20 of 66

<< First< Prev

Page of 4

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

Abstract 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

Abstract 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

Abstract Article PDF–3.6M

Select item 68636404.

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic

SERGIO ALEJANDRO RODRÍGUEZ-QUIROGA, MARTA CORDOBA, DOLORES GONZÁLEZ-MORÓN, NANCY MEDINA, PATRICIA VEGA, CECILIA VAZQUEZ DUSEFANTE, TOMOKO ARAKAKI, NÉLIDA SUSANA GARRETTO, MARCELO ANDRES KAUFFMAN

Genet Res (Camb) 2015; 97: e10. Published online 2015 May 4. doi: 10.1017/S0016672315000087

PMCID:: PMC6863640

Abstract Article PDF–106K

Select item 68562965.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza

Front Neurosci. 2019; 13: 1135. Published online 2019 Nov 8. doi: 10.3389/fnins.2019.01135

PMCID:: PMC6856296

Abstract Article PDF–1.7M

Select item 68513936.

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari, Théo Ribierre, Elise Marsan, Homa Adle-Biassette, Sarah Ferrand-Sorbets, Christine Bulteau, Nathalie Dorison, Martine Fohlen, Marc Polivka, Sarah Weckhuysen, Georg Dorfmüller, Mathilde Chipaux, Stéphanie Baulac

Acta Neuropathol. 2019; 138(6): 885–900. Published online 2019 Aug 23. doi: 10.1007/s00401-019-02061-5

PMCID:: PMC6851393

Abstract Article PDF–2.6M

Select item 67752737.

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

Abstract Article PDF–918K

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

Abstract 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

Abstract 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

Abstract Article PDF–541K

Select item 653659211.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

Front Neurol. 2019; 10: 434. Published online 2019 May 21. doi: 10.3389/fneur.2019.00434

PMCID:: PMC6536592

Abstract Article PDF–405K

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

Abstract 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

Abstract Article PDF–2.0M

Select item 629249514.

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E. Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d’Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R Nordli, Jr, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartolomei, Anne Fabienne Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

Genet Med. 2019; 21(2): 398–408. Published online 2018 Aug 10. doi: 10.1038/s41436-018-0060-2