PMC Links for Nucleotide (Select 1780222575) - PMC

Select item 61666821.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 58151762.

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

Mingyan Hei, Xiangyu Gao, Lingqian Wu

BMC Pediatr. 2018; 18: 64. Published online 2018 Feb 16. doi: 10.1186/s12887-018-1004-3

PMCID:: PMC5815176

Abstract Article PDF–547K

Select item 65465563.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Hui Guo, Michael H. Duyzend, Bradley P. Coe, Carl Baker, Kendra Hoekzema, Jennifer Gerdts, Tychele N. Turner, Michael C. Zody, Jennifer S. Beighley, Shwetha C. Murali, Bradley J. Nelson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Raphael A. Bernier, Evan E. Eichler

Genet Med. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Genet Med. 2019 Jul; 21(7): 1611–1620. Published online 2018 Dec 3. doi: 10.1038/s41436-018-0380-2

PMCID:: PMC6546556

Abstract Article PDF–1.0M

Select item 57281024.

Systematic STAT3 sequencing in patients with unexplained cytopenias identifies unsuspected large granular lymphocytic leukemia

Elizabeth A. Morgan, Mark N. Lee, Daniel J. DeAngelo, David P. Steensma, Richard M. Stone, Frank C. Kuo, Jon C. Aster, Christopher J. Gibson, R. Coleman Lindsley

Blood Adv. 2017 Sep 26; 1(21): 1786–1789. Published online 2017 Sep 13. doi: 10.1182/bloodadvances.2017011197

PMCID:: PMC5728102

Article PDF–766K

Select item 44464575.

Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas

Paul J. Newey, M. Andrew Nesbit, Andrew J. Rimmer, Moustafa Attar, Rosie T. Head, Paul T. Christie, Caroline M. Gorvin, Michael Stechman, Lorna Gregory, Radu Mihai, Greg Sadler, Gil McVean, David Buck, Rajesh V. Thakker

J Clin Endocrinol Metab. 2012 Oct; 97(10): E1995–E2005. Published online 2012 Aug 1. doi: 10.1210/jc.2012-2303

PMCID:: PMC4446457

Abstract Article

Select item 37988346.

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

André Mégarbané, Florian Noguier, Samantha Stora, Laurent Manchon, Clotilde Mircher, Roman Bruno, Nathalie Dorison, Fabien Pierrat, Marie-Odile Rethoré, Bernadette Trentin, Aimé Ravel, Marine Morent, Gerard Lefranc, David Piquemal

Eur J Hum Genet. 2013 Nov; 21(11): 1253–1259. Published online 2013 Feb 20. doi: 10.1038/ejhg.2013.24

PMCID:: PMC3798834

Abstract Article PDF–410K

Select item 31320467.

Regulation of chondrocyte gene expression by osteogenic protein-1

Susan Chubinskaya, Lori Otten, Stephan Soeder, Jeffrey A Borgia, Thomas Aigner, David C Rueger, Richard F Loeser

Arthritis Res Ther. 2011; 13(2): R55. Published online 2011 Mar 29. doi: 10.1186/ar3300

PMCID:: PMC3132046

Abstract Article PDF–415K

Select item 30580998.

Expression analysis of mitotic spindle checkpoint genes in breast carcinoma: role of NDC80/HEC1 in early breast tumorigenicity, and a two-gene signature for aneuploidy

Ivan Bièche, Sophie Vacher, François Lallemand, Sengül Tozlu-Kara, Hind Bennani, Michèle Beuzelin, Keltouma Driouch, Etienne Rouleau, Florence Lerebours, Hugues Ripoche, Géraldine Cizeron-Clairac, Frédérique Spyratos, Rosette Lidereau

Mol Cancer. 2011; 10: 23. Published online 2011 Feb 27. doi: 10.1186/1476-4598-10-23

PMCID:: PMC3058099

Abstract Article PDF–540K

Select item 29234299.

Mutations and Variants in the Cohesion factor genes NIPBL, SMC1A and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange Syndrome

Juan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, Eduardo López-Viñas, María Pilar Ribate, María Arnedo, Matthew A. Deardorff, Beatriz Puisac, Jesús Legarreta, Juan Carlos de Karam, Encarnación Rubio, Inés Bueno, Antonio Baldellou, Mª Teresa Calvo, Nuria Casals, José Luis Olivares, Ana Losada, Fausto G. Hegardt, Ian D. Krantz, Paulino Gómez-Puertas, Feliciano J. Ramos

Am J Med Genet A. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Am J Med Genet A. 2010 Apr; 152A(4): 924–929. doi: 10.1002/ajmg.a.33348

PMCID:: PMC2923429

Abstract Article PDF–409K

Select item 182915610.

Transcriptional analysis of early lineage commitment in human embryonic stem cells

Andrew L Laslett, Sean Grimmond, Brooke Gardiner, Lincon Stamp, Adelia Lin, Susan M Hawes, Sam Wormald, David Nikolic-Paterson, David Haylock, Martin F Pera

BMC Dev Biol. 2007; 7: 12. Published online 2007 Mar 2. doi: 10.1186/1471-213X-7-12

PMCID:: PMC1829156

Abstract Article PDF–1.1M

Select item 182110111.

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pie, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, Kaj Lillquist, Victoria Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz

Am J Hum Genet. 2007 Mar; 80(3): 485–494. Published online 2007 Jan 17. doi: 10.1086/511888

PMCID:: PMC1821101

Abstract Article PDF–4.1M

Select item 163606612.

SMC3 knockdown triggers genomic instability and p53-dependent apoptosis in human and zebrafish cells

Giancarlo Ghiselli

Mol Cancer. 2006; 5: 52. Published online 2006 Nov 2. doi: 10.1186/1476-4598-5-52

PMCID:: PMC1636066

Abstract Article PDF–2.1M

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