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Items: 1 to 20 of 39

1.
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis
Hugo H. Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Genes (Basel) 2023 Dec; 14(12): 2212. Published online 2023 Dec 14. doi: 10.3390/genes14122212
PMCID:
PMC10742884
AbstractArticlePDF–4.1M
2.
Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza
Tanya Novak, Jeremy Chase Crawford, Georg Hahn, Mark W. Hall, Simone A. Thair, Margaret M. Newhams, Janet Chou, Peter M. Mourani, Keiko M. Tarquinio, Barry Markovitz, Laura L. Loftis, Scott L. Weiss, Renee Higgerson, Adam J. Schwarz, Neethi P. Pinto, Neal J. Thomas, Rainer G. Gedeit, Ronald C. Sanders, Jr., Sidharth Mahapatra, Bria M. Coates, Natalie Z. Cvijanovich, Kate G. Ackerman, David W. Tellez, Patrick McQuillen, Stephen C. Kurachek, Steven L. Shein, Christoph Lange, Paul G. Thomas, Adrienne G. Randolph
Front Immunol. 2023; 14: 1220028. Published online 2023 Jul 18. doi: 10.3389/fimmu.2023.1220028
PMCID:
PMC10390830
AbstractArticlePDF–2.0M
3.
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio Percesepe
Genes (Basel) 2023 Jun; 14(6): 1241. Published online 2023 Jun 10. doi: 10.3390/genes14061241
PMCID:
PMC10297877
AbstractArticlePDF–750K
4.
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018
Antonie D. Kline, Ian D. Krantz, Masashige Bando, Katsuhiko Shirahige, Stephenson Chea, Toyonori Sakata, Suhas Rao, Dale Dorsett, Vijay Pratap Singh, Jennifer L. Gerton, Julia A. Horsfield, Anne L. Calof, Olivia Katz, Marco Grados, Sarah Raible, Kristin Barañano, Gholson Lyon, Antonio Musio, Cheri S. Carrico, Douglas K. Clemens, Patti Caudill, Valentina Massa, Bryan E. McGill, Aila Dommestrup, Julia O’Connor, Richard E. Haaland
Am J Med Genet A. Author manuscript; available in PMC 2023 Mar 6.
Published in final edited form as: Am J Med Genet A. 2019 Jun; 179(6): 1080–1090. Published online 2019 Mar 15. doi: 10.1002/ajmg.a.61108
PMCID:
PMC9987326
AbstractArticlePDF–113K
5.
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, Gonzalo González García, Ángela Ascaso, Ana Latorre-Pellicer, María Arnedo, Cristina Lucia-Campos, Marta Gil-Salvador, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié, Gloria Bueno-Lozano
Int J Cardiovasc Imaging. 2022; 38(11): 2291–2302. Published online 2022 May 19. doi: 10.1007/s10554-022-02612-0
PMCID:
PMC9700592
AbstractArticlePDF–2.1M
6.
Esco2 and cohesin regulate CRL4 ubiquitin ligase ddb1 expression and thalidomide teratogenicity
Annie C. Sanchez, Elise D. Thren, M. Kathryn Iovine, Robert V. Skibbens
Cell Cycle. 2022; 21(5): 501–513. Published online 2022 Jan 6. doi: 10.1080/15384101.2021.2023304
PMCID:
PMC8942496
AbstractArticlePDF–2.6M
7.
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies
Andreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, Ji Xinge, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An-Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal
Neurology. 2022 Mar 15; 98(11): e1163–e1174. doi: 10.1212/WNL.0000000000200028
PMCID:
PMC8935441
AbstractArticlePDF–780K
8.
Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis
Boguslaw Nedoszytko, Michel Arock, Jonathan J. Lyons, Guillaume Bachelot, Lawrence B. Schwartz, Andreas Reiter, Mohamad Jawhar, Juliana Schwaab, Magdalena Lange, Georg Greiner, Gregor Hoermann, Marek Niedoszytko, Dean D. Metcalfe, Peter Valent
Int J Mol Sci. 2021 Jan; 22(1): 411. Published online 2021 Jan 2. doi: 10.3390/ijms22010411
PMCID:
PMC7795405
AbstractArticlePDF–848K
9.
Whole genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, Ortal Avraham, Judith Dagan, Ayala Frumkin, James R. Lupski, Anna Lindstrand, Tamar Harel
Am J Med Genet A. Author manuscript; available in PMC 2020 Sep 20.
Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1143–1151. Published online 2020 Mar 3. doi: 10.1002/ajmg.a.61539
PMCID:
PMC7502196
AbstractArticlePDF–608K
10.
Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes
Suhas Ganesh, Husayn Ahmed P., Ravi K. Nadella, Ravi P. More, Manasa Seshadri, Biju Viswanath, Mahendra Rao, Sanjeev Jain, The ADBS Consortium, Odity Mukherjee
Psychiatry Clin Neurosci. 2019 Jan; 73(1): 11–19. Published online 2018 Dec 12. doi: 10.1111/pcn.12788
PMCID:
PMC7380025
AbstractArticlePDF–701K
11.
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange–like presentation
Aixa Gonzalez Garcia, Julia Malone, Hong Li
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005322. doi: 10.1101/mcs.a005322
PMCID:
PMC7304356
AbstractArticlePDF–1.0M
12.
An International Multi-Center Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition
Jason D. Roberts, S. Yukiko Asaki, Andrea Mazzanti, J. Martijn Bos, Izabela Tuleta, Alison R. Muir, Lia Crotti, Andrew D. Krahn, Valentina Kutyifa, M. Benjamin Shoemaker, Christopher L. Johnsrude, Takeshi Aiba, Luciana Marcondes, Anwar Baban, Sharmila Udupa, Brynn Dechert, Peter Fischbach, Linda M. Knight, Eric Vittinghoff, Deni Kukavica, Birgit Stallmeyer, John R. Giudicessi, Carla Spazzolini, Keiko Shimamoto, Rafik Tadros, Julia Cadrin-Tourigny, Henry J. Duff, Christopher S. Simpson, Thomas M. Roston, Yanushi D. Wijeyeratne, Imane El Hajjaji, Maisoon D. Yousif, Lorne J. Gula, Peter Leong-Sit, Nikhil Chavali, Andrew P. Landstrom, Gregory M. Marcus, Sven Dittmann, Arthur A. M. Wilde, Elijah R. Behr, Jacob Tfelt-Hansen, Melvin M. Scheinman, Marco V. Perez, Juan Pablo Kaski, Robert M. Gow, Fabrizio Drago, Peter F. Aziz, Dominic J. Abrams, Michael H. Gollob, Jonathan R. Skinner, Wataru Shimizu, Elizabeth S. Kaufman, Dan M. Roden, Wojciech Zareba, Peter J. Schwartz, Eric Schulze-Bahr, Susan P. Etheridge, Silvia G. Priori, Michael J. Ackerman
Circulation. Author manuscript; available in PMC 2021 Feb 11.
Published in final edited form as: Circulation. 2020 Feb 11; 141(6): 429–439. Published online 2020 Jan 16. doi: 10.1161/CIRCULATIONAHA.119.043114
PMCID:
PMC7035205
AbstractArticlePDF–614K
13.
Cancer Risks for PMS2-Associated Lynch Syndrome
Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Stefan Aretz, Inge Bernstein, Daniel D. Buchanan, Albert de la Chapelle, Gabriel Capella, Mark Clendenning, Christoph Engel, Steven Gallinger, Encarna Gomez Garcia, Jane C. Figueiredo, Robert Haile, Heather L. Hampel, Liselotte van Hest, John L. Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loic Le Marchand, Tom G.W. Letteboer, Mark A. Jenkins, Annika Lindblom, Noralane M. Lindor, Arjen R. Mensenkamp, Pål Møller, Polly A. Newcomb, Theo A.M. van Os, Rachel Pearlman, Marta Pineda, Nils Rahner, Egbert J.W. Redeker, Maran J.W. Olderode-Berends, Christophe Rosty, Hans K. Schackert, Rodney Scott, Leigha Senter, Liesbeth Spruijt, Verena Steinke-Lange, Manon Suerink, Stephen Thibodeau, Yvonne J. Vos, Anja Wagner, Ingrid Winship, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, Maartje Nielsen, Aung Ko Win
J Clin Oncol. 2018 Oct 10; 36(29): 2961–2968. Published online 2018 Aug 30. doi: 10.1200/JCO.2018.78.4777
Correction in:
J Clin Oncol. 2019 Mar 20; 37(9): 761.
PMCID:
PMC6349460
AbstractArticlePDF–920K
14.
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasag
BMC Med Genet. 2019; 20: 1. Published online 2019 Jan 3. doi: 10.1186/s12881-018-0738-y
PMCID:
PMC6318863
AbstractArticlePDF–819K
15.
Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders
James Slack, Michael H Albert, Dmitry Balashov, Bernd H Belohradsky, Alice Bertaina, Jack Bleesing, Claire Booth, Jochen Büchner, Rebecca H Buckley, Marie Ouachée-Chardin, Elena Deripapa, Katarzyna Drabko, Mary Eapen, Tobias Feuchtinger, Andrea Finocchi, H Bobby Gaspar, Sujal Ghosh, Alfred Gillio, Luis I Gonzalez-Granado, Eyal Grunebaum, Tayfun Güngör, Carsten Heilmann, Merja Helminen, Kohei Higuchi, Kohsuke Imai, Krzysztof Kalwak, Nubuo Kanazawa, Gülsün Karasu, Zeynep Y Kucuk, Alexandra Laberko, Andrzej Lange, Nizar Mahlaoui, Roland Meisel, D Moshous, Hideki Muramatsu, Suhag Parikh, Srdjan Pasic, Irene Schmid, Catharina Schuetz, Ansgar Schulz, Kirk R Schultz, Peter J Shaw, Mary A Slatter, Karl-Walter Sykora, Shinobu Tamura, Mervi Taskinen, Angela Wawer, Beata Wolska-Kuśnierz, Morton J Cowan, Alain Fischer, Andrew R Gennery
J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Jan 1.
Published in final edited form as: J Allergy Clin Immunol. 2018 Jan; 141(1): 322–328.e10. Published online 2017 Apr 7. doi: 10.1016/j.jaci.2017.02.036
PMCID:
PMC5632132
AbstractArticlePDF–175K
16.
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR
Kobe C. Yuen, Baoshan Xu, Ian D. Krantz, Jennifer L. Gerton
Cell Rep. Author manuscript; available in PMC 2016 Jun 13.
Published in final edited form as: Cell Rep. 2016 Jan 5; 14(1): 93–102. Published online 2015 Dec 24. doi: 10.1016/j.celrep.2015.12.012
PMCID:
PMC4904785
AbstractArticlePDF–577K
17.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
Ian D Krantz, Jennifer McCallum, Cheryl DeScipio, Maninder Kaur, Lynette A Gillis, Dinah Yaeger, Lori Jukofsky, Nora Wasserman, Armand Bottani, Colleen A Morris, Malgorzata J M Nowaczyk, Helga Toriello, Michael J Bamshad, John C Carey, Eric Rappaport, Shimako Kawauchi, Arthur D Lander, Anne L Calof, Hui-hua Li, Marcella Devoto, Laird G Jackson
Nat Genet. Author manuscript; available in PMC 2016 Jun 10.
Published in final edited form as: Nat Genet. 2004 Jun; 36(6): 631–635. Published online 2004 May 16. doi: 10.1038/ng1364
PMCID:
PMC4902017
AbstractArticlePDF–1.2M
18.
Exclusion of Linkage to the CDL1 Gene Region on Chromosome 3q26.3 in Some Familial Cases of Cornelia de Lange Syndrome
Ian D. Krantz, Emma Tonkin, Melanie Smith, Marcella Devoto, Armand Bottani, Claire Simpson, Mary Hofreiter, Vinod Abraham, Lori Jukofsky, Brian P. Conti, Tom Strachan, Laird Jackson
Am J Med Genet. Author manuscript; available in PMC 2016 Jun 7.
Published in final edited form as: Am J Med Genet. 2001 Jun 15; 101(2): 120–129.
PMCID:
PMC4896160
AbstractArticlePDF–1.1M
19.
Defective sister chromatid cohesion is synthetically lethal with impaired APC/C function
Job de Lange, Atiq Faramarz, Anneke B. Oostra, Renee X. de Menezes, Ida H. van der Meulen, Martin A. Rooimans, Davy A. Rockx, Ruud H. Brakenhoff, Victor W. van Beusechem, Randall W. King, Johan P. de Winter, Rob M. F. Wolthuis
Nat Commun. 2015; 6: 8399. Published online 2015 Oct 1. doi: 10.1038/ncomms9399
PMCID:
PMC4600715
AbstractArticlePDF–2.7M
20.
Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
Mi-Ae Jang, Chang-Woo Lee, Jin-Kyung Kim, Chang-Seok Ki
Ann Lab Med. 2015 Nov; 35(6): 639–642. Published online 2015 Sep 1. doi: 10.3343/alm.2015.35.6.639
PMCID:
PMC4579110
AbstractArticlePDF–425K

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