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Items: 1 to 20 of 408

1.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
HGG Adv. 2024 Apr 11; 5(2): 100273. Published online 2024 Jan 30. doi: 10.1016/j.xhgg.2024.100273
PMCID:
PMC10876629
AbstractArticlePDF–3.1M
2.
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3
Emma T. Tonkin, Melanie Smith, Piet Eichhorn, Sandie Jones, Burhan Imamwerdi, Susan Lindsay, Mike Jackson, Tzu-Jou Wang, Maggie Ireland, John Burn, Ian D. Krantz, Philippa Carr, Tom Strachan
Hum Genet. Author manuscript; available in PMC 2016 Jun 6.
Published in final edited form as: Hum Genet. 2004 Jul; 115(2): 139–148. Published online 2004 May 27. doi: 10.1007/s00439-004-1134-6
PMCID:
PMC4894837
AbstractArticlePDF–774K
3.
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome
Beatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez-Puertas, Frank J. Kaiser, Feliciano J. Ramos, Lena Ström, Juan Pié
Int J Mol Sci. 2017 Mar; 18(3): 481. Published online 2017 Feb 23. doi: 10.3390/ijms18030481
PMCID:
PMC5372497
AbstractArticlePDF–3.0M
4.
Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration
Debbie L.C. van den Berg, Roberta Azzarelli, Koji Oishi, Ben Martynoga, Noelia Urbán, Dick H.W. Dekkers, Jeroen A. Demmers, François Guillemot
Neuron. 2017 Jan 18; 93(2): 348–361. doi: 10.1016/j.neuron.2016.11.047
PMCID:
PMC5263256
AbstractArticle
5.
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders
Matthew A. Deardorff, Nicholas J. Porter, David W. Christianson
Protein Sci. 2016 Nov; 25(11): 1965–1976. Published online 2016 Sep 16. doi: 10.1002/pro.3030
PMCID:
PMC5079251
AbstractArticlePDF–3.0M
6.
The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency
Bruce D. Gelb
PLoS Biol. 2016 Sep; 14(9): e2000494. Published online 2016 Sep 8. doi: 10.1371/journal.pbio.2000494
PMCID:
PMC5015829
AbstractArticlePDF–141K
7.
Genetic Enhancement of Limb Defects in a Mouse Model of Cornelia de Lange Syndrome
MARTHA E. LOPEZ-BURKS, ROSAYSELA SANTOS, SHIMAKO KAWAUCHI, ANNE L. CALOF, ARTHUR D. LANDER
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2016 Jun 27.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2016 Jun; 172(2): 146–154. Published online 2016 Apr 27. doi: 10.1002/ajmg.c.31491
PMCID:
PMC4921392
AbstractArticlePDF–1.0M
8.
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
9.
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report
Claudia Santoro, Andrea Apicella, Fiorina Casale, Angela La Manna, Martina Di Martino, Daniela Di Pinto, Cristiana Indolfi, Silverio Perrotta
BMC Cancer. 2016; 16: 365. Published online 2016 Jun 13. doi: 10.1186/s12885-016-2402-2
PMCID:
PMC4904356
AbstractArticlePDF–403K
10.
Natural History of Aging in Cornelia de Lange Syndrome
Dr ANTONIE D. KLINE, Dr MARCO GRADOS, Dr PAUL SPONSELLER, Dr HOWARD P. LEVY, Dr NATALIE BLAGOWIDOW, Dr CHRISTIANNE SCHOEDEL, Ms. JONI RAMPOLLA, Dr DOUGLAS K. CLEMENS, Dr IAN KRANTZ, Ms AMY KIMBALL, Dr CARMEN PICHARD, Dr DAVID TUCHMAN
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2016 Jun 10.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2007 Aug 15; 145C(3): 248–260. doi: 10.1002/ajmg.c.30137
PMCID:
PMC4902018
AbstractArticlePDF–762K
11.
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
12.
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
13.
Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With Chromosome Rearrangements
Cheryl DeScipio, Maninder Kaur, Dinah Yaeger, Jeffrey W. Innis, Nancy B. Spinner, Laird G. Jackson, Ian D. Krantz
Am J Med Genet A. Author manuscript; available in PMC 2016 Jun 7.
Published in final edited form as: Am J Med Genet A. 2005 Sep 1; 137A(3): 276–282. doi: 10.1002/ajmg.a.30857
PMCID:
PMC4896149
AbstractArticlePDF–364K
14.
Cohesin and Human Disease
Jinglan Liu, Ian D. Krantz
Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2016 Jun 6.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2008; 9: 303–320. doi: 10.1146/annurev.genom.9.081307.164211
PMCID:
PMC4894839
AbstractArticlePDF–1.2M
15.
Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein–Taybi Syndromes
Hayley Crawford, Jane Waite, Chris Oliver
J Autism Dev Disord. 2017; 47(12): 3728–3740. Published online 2017 Jan 31. doi: 10.1007/s10803-016-3015-y
PMCID:
PMC5676833
AbstractArticlePDF–1.0M
16.
Dominant Paternal Transmission of Cornelia de Lange Syndrome: A New Case and Review of 25 Previously Reported Familial Recurrences
Karen L. Russell, Jeffrey E. Ming, Ketan Patel, Lori Jukofsky, Mark Magnusson, Ian D. Krantz
Am J Med Genet. Author manuscript; available in PMC 2016 Jun 6.
Published in final edited form as: Am J Med Genet. 2001 Dec 15; 104(4): 267–276. doi: 10.1002/ajmg.10066
PMCID:
PMC4894663
AbstractArticlePDF–2.4M
17.
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome
María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Jelena Pozojevic, Ilaria Parenti, Carolina Baquero-Montoya, María C. Gil-Rodríguez, Diana Braunholz, Andreas Dalski, María Hernández-Marcos, Ariadna Ayerza, María L. Bernal, Feliciano J. Ramos, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Juan Pié, Frank J. Kaiser
Biomed Res Int. 2016; 2016: 8742939. Published online 2016 Jan 26. doi: 10.1155/2016/8742939
PMCID:
PMC4746300
AbstractArticlePDF–1.9M
18.
Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome
Linda Mannini, Fabien C. Lamaze, Francesco Cucco, Clelia Amato, Valentina Quarantotti, Ilaria M Rizzo, Ian D Krantz, Steve Bilodeau, Antonio Musio
Sci Rep. 2015; 5: 16803. Published online 2015 Nov 19. doi: 10.1038/srep16803
PMCID:
PMC4652179
AbstractArticlePDF–1.0M
19.
Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior
Yaning Wu, Maria Gause, Dongbin Xu, Ziva Misulovin, Cheri A. Schaaf, Ramya C. Mosarla, Elizabeth Mannino, Megan Shannon, Emily Jones, Mi Shi, Wen-Feng Chen, Olivia L. Katz, Amita Sehgal, Thomas A. Jongens, Ian D. Krantz, Dale Dorsett
PLoS Genet. 2015 Nov; 11(11): e1005655. Published online 2015 Nov 6. doi: 10.1371/journal.pgen.1005655
PMCID:
PMC4636142
AbstractArticlePDF–3.8M
20.
Biochemical and Structural Characterization of HDAC8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders
Christophe Decroos, Nicolas H. Christianson, Laura E. Gullett, Christine M. Bowman, Karen E. Christianson, Matthew A. Deardorff, David W. Christianson
Biochemistry. 2015 Oct 27; 54(42): 6501–6513. Published online 2015 Oct 14. doi: 10.1021/acs.biochem.5b00881
PMCID:
PMC4624487
AbstractArticlePDF–7.4M

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