PMC Articles for MedGen (Select 816353) - PMC

Select item 113909541.

Dhiran Sivasubramanian, Ahila Ayyavoo

Cureus. 2024 Aug; 16(8): e66692. Published online 2024 Aug 12. doi: 10.7759/cureus.66692

PMCID:: PMC11390954

Select item 109994332.

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature

Amarens Hoogenboom, Farah A. Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M. van Haelst

Eur J Hum Genet. 2024 Apr; 32(4): 435–439. Published online 2024 Jan 25. doi: 10.1038/s41431-023-01527-1

PMCID:: PMC10999433

Abstract Article PDF–1.0M

Select item 108893993.

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders

Emily Baum, Wenming Huang, Catherine Vincent-Delorme, Perrine Brunelle, Adam Antebi, Hormos Salimi Dafsari

Int J Mol Sci. 2024 Feb; 25(4): 2053. Published online 2024 Feb 8. doi: 10.3390/ijms25042053

PMCID:: PMC10889399

Abstract Article PDF–4.0M

Select item 91393834.

Scribble Controls Social Motivation Behavior through the Regulation of the ERK/Mnk1 Pathway

Maïté M. Moreau, Susanna Pietropaolo, Jérôme Ezan, Benjamin J. A. Robert, Sylvain Miraux, Marlène Maître, Yoon Cho, Wim E. Crusio, Mireille Montcouquiol, Nathalie Sans

Cells. 2022 May; 11(10): 1601. Published online 2022 May 10. doi: 10.3390/cells11101601

PMCID:: PMC9139383

Abstract Article PDF–5.4M

Select item 85022615.

Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

Xingyu Zhang, Bo Wang, Guoling You, Ying Xiang, Qihua Fu, Yongguo Yu, Xiaoqing Zhang

BMC Med Genomics. 2021; 14: 243. Published online 2021 Oct 9. doi: 10.1186/s12920-021-01090-y

PMCID:: PMC8502261

Abstract Article PDF–895K

Select item 80794496.

Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity

Jerome Ezan, Maité M. Moreau, Tamrat M. Mamo, Miki Shimbo, Maureen Decroo, Melanie Richter, Ronan Peyroutou, Rivka Rachel, Fadel Tissir, Froylan Calderon de Anda, Nathalie Sans, Mireille Montcouquiol

Sci Rep. 2021; 11: 9106. Published online 2021 Apr 27. doi: 10.1038/s41598-021-88147-1

PMCID:: PMC8079449

Abstract Article PDF–5.9M

Select item 68366707.

Copy number of 8q24.3 drives HSF1 expression and patient outcome in cancer: an individual patient data meta-analysis

Nele Brusselaers, Karl Ekwall, Mickael Durand-Dubief

Hum Genomics. 2019; 13: 54. Published online 2019 Nov 7. doi: 10.1186/s40246-019-0241-3

PMCID:: PMC6836670

Abstract Article PDF–2.5M

Select item 66976228.

Integrative copy number analysis of uveal melanoma reveals novel candidate genes involved in tumorigenesis including a tumor suppressor role for PHF10/ BAF45a

Hima Anbunathan, Ruth Verstraten, A. Singh, J. William Harbour, Anne M. Bowcock

Clin Cancer Res. Author manuscript; available in PMC 2020 Feb 15.

Published in final edited form as: Clin Cancer Res. 2019 Aug 15; 25(16): 5156–5166. Published online 2019 Jun 21. doi: 10.1158/1078-0432.CCR-18-3052

PMCID:: PMC6697622

Abstract Article PDF–782K

Select item 61997339.

Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature

Qiong Xu, Chun-yang Li, Yi Wang, Hui-ping Li, Bing-bing Wu, Yong-hui Jiang, Xiu Xu

BMC Med Genomics. 2018; 11: 92. Published online 2018 Oct 23. doi: 10.1186/s12920-018-0421-3

PMCID:: PMC6199733

Abstract Article PDF–807K

Select item 576547610.

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Jin J. Zhao, Jonatan Halvardson, Cecilia S. Zander, Ammar Zaghlool, Patrik Georgii‐Hemming, Else Månsson, Göran Brandberg, Helena E. Sävmarker, Carina Frykholm, Ekaterina Kuchinskaya, Ann‐Charlotte Thuresson, Lars Feuk

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan; 177(1): 10–20. Published online 2017 Oct 9. doi: 10.1002/ajmg.b.32574

PMCID:: PMC5765476

Abstract Article PDF–525K

Select item 515976811.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre

Eur J Hum Genet. 2017 Jan; 25(1): 43–51. Published online 2016 Nov 2. doi: 10.1038/ejhg.2016.133

PMCID:: PMC5159768

Abstract Article PDF–1.1M

Select item 512048912.

A systematic comparison of copy number alterations in four types of female cancer

Fatemeh Kaveh, Lars O. Baumbusch, Daniel Nebdal, Anne-Lise Børresen-Dale, Ole Christian Lingjærde, Hege Edvardsen, Vessela N. Kristensen, Hiroko K. Solvang

BMC Cancer. 2016; 16: 913. Published online 2016 Nov 22. doi: 10.1186/s12885-016-2899-4

Correction in:: BMC Cancer. 2018; 18: 80.

PMCID:: PMC5120489

Abstract Article PDF–3.5M

Select item 509496513.

Copy number variations in urine cell free DNA as biomarkers in advanced prostate cancer

Yun Xia, Chiang-Ching Huang, Rachel Dittmar, Meijun Du, Yuan Wang, Hongyan Liu, Niraj Shenoy, Liang Wang, Manish Kohli

Oncotarget. 2016 Jun 14; 7(24): 35818–35831. Published online 2016 Apr 26. doi: 10.18632/oncotarget.9027

PMCID:: PMC5094965

Abstract Article PDF–1.8M

Select item 481840114.

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci

Hamid Reza Saadati, Michael Wittig, Ingo Helbig, Robert Häsler, Carl A. Anderson, Christopher G. Mathew, Limas Kupcinskas, Miles Parkes, Tom Hemming Karlsen, Philip Rosenstiel, Stefan Schreiber, Andre Franke

BMC Med Genet. 2016; 17: 26. Published online 2016 Apr 1. doi: 10.1186/s12881-016-0289-z

PMCID:: PMC4818401

Abstract Article PDF–1.8M

Select item 452177415.

UNIQUE GENOMIC PROFILE OF FIBROLAMELLAR HEPATOCELLULAR CARCINOMA

Helena Cornella, Clara Alsinet, Sergi Sayols, Zhongyang Zhang, Ke Hao, Laia Cabellos, Yujin Hoshida, Augusto Villanueva, Swan Thung, Stephen C. Ward, Leonardo Rodriguez-Carunchio, Maria Vila-Casadesús, Sandrine Imbeaud, Anja Lachenmayer, Alberto Quaglia, David M. Nagorney, Beatriz Minguez, Flair Carrilho, Lewis R. Roberts, Samuel Waxman, Vincenzo Mazzaferro, Myron Schwartz, Manel Esteller, Nigel D. Heaton, Jessica Zucman-Rossi, Josep M. Llovet

Gastroenterology. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Gastroenterology. 2015 Apr; 148(4): 806–18.e10. Published online 2014 Dec 31. doi: 10.1053/j.gastro.2014.12.028

PMCID:: PMC4521774

Abstract Article PDF–1.5M

Select item 382412916.

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M. Jodelka, Maria Kibaek, Susanne Kjaergaard, Bruno Leheup, Danielle Martinet, Malgorzata J.M. Nowaczyk, Jill A. Rosenfeld, Susan Zeesman, Janice Zunich, Jacques S. Beckmann, Joel N. Hirschhorn, Michelle L. Hastings, Sebastien Jacquemont, Nicholas Katsanis

Am J Hum Genet. 2013 Nov 7; 93(5): 798–811. doi: 10.1016/j.ajhg.2013.09.010

Correction in:: Am J Hum Genet. 2013 Nov 7; 93(5): 994.

PMCID:: PMC3824129

Abstract Article PDF–1.5M

Select item 304989117.

A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci

Nathaniel Rothman, Montserrat Garcia-Closas, Nilanjan Chatterjee, Nuria Malats, Xifeng Wu, Jonine Figueroa, Francisco X Real, David Van Den Berg, Giuseppe Matullo, Dalsu Baris, Michael Thun, Lambertus A Kiemeney, Paolo Vineis, Immaculata De Vivo, Demetrius Albanes, Mark P Purdue, Thorunn Rafnar, Michelle A T Hildebrandt, Anne E Kiltie, Olivier Cussenot, Klaus Golka, Rajiv Kumar, Jack A Taylor, Jose I Mayordomo, Kevin B Jacobs, Manolis Kogevinas, Amy Hutchinson, Zhaoming Wang, Yi-Ping Fu, Ludmila Prokunina-Olsson, Laurie Burdette, Meredith Yeager, William Wheeler, Adonina Tardón, Consol Serra, Alfredo Carrato, Reina García-Closas, Josep Lloreta, Alison Johnson, Molly Schwenn, Margaret R Karagas, Alan Schned, Gerald Andriole, Jr, Robert Grubb, III, Amanda Black, Eric J Jacobs, W Ryan Diver, Susan M Gapstur, Stephanie J Weinstein, Jarmo Virtamo, Victoria K Cortessis, Manuela Gago-Dominguez, Malcolm C Pike, Mariana C Stern, Jian-Min Yuan, David Hunter, Monica McGrath, Colin P Dinney, Bogdan Czerniak, Meng Chen, Hushan Yang, Sita H Vermeulen, Katja K Aben, J Alfred Witjes, Remco R Makkinje, Patrick Sulem, Soren Besenbacher, Kari Stefansson, Elio Riboli, Paul Brennan, Salvatore Panico, Carmen Navarro, Naomi E Allen, H Bas Bueno-de-Mesquita, Dimitrios Trichopoulos, Neil Caporaso, Maria Teresa Landi, Federico Canzian, Borje Ljungberg, Anne Tjonneland, Francoise Clavel-Chapelon, David T Bishop, Mark T W Teo, Margaret A Knowles, Simonetta Guarrera, Silvia Polidoro, Fulvio Ricceri, Carlotta Sacerdote, Alessandra Allione, Geraldine Cancel-Tassin, Silvia Selinski, Jan G Hengstler, Holger Dietrich, Tony Fletcher, Peter Rudnai, Eugen Gurzau, Kvetoslava Koppova, Sophia C E Bolick, Ashley Godfrey, Zongli Xu, José I Sanz-Velez, María D García-Prats, Manuel Sanchez, Gabriel Valdivia, Stefano Porru, Simone Benhamou, Robert N Hoover, Joseph F Fraumeni, Jr., Debra T Silverman, Stephen J Chanock

Nat Genet. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Nat Genet. 2010 Nov; 42(11): 978–984. Published online 2010 Oct 24. doi: 10.1038/ng.687

PMCID:: PMC3049891

Abstract Article PDF–519K

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