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Items: 18

1.
Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis–van Creveld Syndrome
Nancy Negrete-Torres, María del Carmen Chima-Galán, Ernesto Antonio Sierra-López, Janet Sánchez-Ramos, Isela Álvarez-González, Julia Reyes-Reali, María Isabel Mendoza-Ramos, Efraín Garrido-Guerrero, Dante Amato, Claudia Fabiola Méndez-Catalá, Glustein Pozo-Molina, Adolfo René Méndez-Cruz
Genes (Basel) 2023 Apr; 14(4): 887. Published online 2023 Apr 9. doi: 10.3390/genes14040887
PMCID:
PMC10137610
AbstractArticlePDF–7.3M
2.
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates
Bassam R Ali, Nadia A Akawi, Faris Chedid, Mahmood Bakir, Moghis Ur Rehman, Aiman Rahmani, Lihadh Al-Gazali
BMC Med Genet. 2010; 11: 33. Published online 2010 Feb 25. doi: 10.1186/1471-2350-11-33
PMCID:
PMC2845574
AbstractArticlePDF–762K
3.
Ellis-Van Creveld syndrome
Geneviève Baujat, Martine Le Merrer
Orphanet J Rare Dis. 2007; 2: 27. Published online 2007 Jun 4. doi: 10.1186/1750-1172-2-27
PMCID:
PMC1891277
AbstractArticlePDF–449K
4.
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations
Piranit Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, Kamornwan Katanyuwong, Chumpol Ngamphiw, Nuntigar Sonsuwan, Worrachet Intachai, Sissades Tongsima, Philip L. Beales, Worakanya Buranaphatthana
Genes (Basel) 2023 Jan; 14(1): 84. Published online 2022 Dec 27. doi: 10.3390/genes14010084
PMCID:
PMC9858533
AbstractArticlePDF–2.0M
5.
Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution
David Gokhman, Rachel M. Agoglia, Maia Kinnebrew, Wei Gordon, Danqiong Sun, Vivek K. Bajpai, Sahin Naqvi, Coral Chen, Anthony Chan, Chider Chen, Dmitri A. Petrov, Nadav Ahituv, Honghao Zhang, Yuji Mishina, Joanna Wysocka, Rajat Rohatgi, Hunter B. Fraser
Nat Genet. Author manuscript; available in PMC 2021 Sep 17.
Published in final edited form as: Nat Genet. 2021 Apr; 53(4): 467–476. Published online 2021 Mar 17. doi: 10.1038/s41588-021-00804-3
Correction in:
Nat Genet. 2021 Mar 24
PMCID:
PMC8038968
AbstractArticlePDF–1.6M
6.
Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome
Victor L. Ruiz-Perez, Stuart W. J. Tompson, Helen J. Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O. Silva, Ben Hamel, John L. Gibbs, Ian D. Young, Michael J. Wright, Judith A. Goodship
Am J Hum Genet. 2003 Mar; 72(3): 728–732. Published online 2003 Feb 4. doi: 10.1086/368063
PMCID:
PMC1180248
AbstractArticlePDF–323K
7.
Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism
Haruko Takeda, Marika Takami, Tomoko Oguni, Takehito Tsuji, Kazuhiro Yoneda, Hiroaki Sato, Naoya Ihara, Tomohito Itoh, Srinivas R. Kata, Yuji Mishina, James E. Womack, Yasuo Moritomo, Yoshikazu Sugimoto, Tetsuo Kunieda
Proc Natl Acad Sci U S A. 2002 Aug 6; 99(16): 10549–10554. Published online 2002 Jul 22. doi: 10.1073/pnas.152337899
PMCID:
PMC124971
AbstractArticlePDF–946K
8.
Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
Ranad Shaheen, Eissa Faqeih, Muneera J Alshammari, Abdulrahman Swaid, Lihadh Al-Gazali, Elham Mardawi, Shinu Ansari, Sameera Sogaty, Mohammed Z Seidahmed, Muhammed I AlMotairi, Chantal Farra, Wesam Kurdi, Shatha Al-Rasheed, Fowzan S Alkuraya
Eur J Hum Genet. 2013 Jul; 21(7): 762–768. Published online 2012 Nov 21. doi: 10.1038/ejhg.2012.254
PMCID:
PMC3722952
AbstractArticlePDF–1.4M
9.
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations
Roxann G Ingersoll, Jacqueline Hetmanski, Ji-Wan Park, M Daniele Fallin, Iain McIntosh, Yah-Huei Wu-Chou, Philip K Chen, Vincent Yeow, Samuel S Chong, Felicia Cheah, Jae Woong Sull, Sun Ha Jee, Hong Wang, Tao Wu, Tanda Murray, Shangzhi Huang, Xiaoqian Ye, Ethylin Wang Jabs, Richard Redett, Gerald Raymond, Alan F Scott, Terri H Beaty
Eur J Hum Genet. 2010 Jun; 18(6): 726–732. Published online 2010 Jan 20. doi: 10.1038/ejhg.2009.228
PMCID:
PMC2874614
AbstractArticlePDF–723K
10.
Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease
Kristen Lipscomb Sund, Stephanie Roelker, Vijaya Ramachandran, Lisa Durbin, D. Woodrow Benson
Hum Mol Genet. 2009 May 15; 18(10): 1813–1824. Published online 2009 Feb 27. doi: 10.1093/hmg/ddp098
PMCID:
PMC2671989
AbstractArticlePDF–729K
11.
EFCAB7 and IQCE regulate Hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia
Ganesh V. Pusapati, Casey E Hughes, Karolin V. Dorn, Dapeng Zhang, Priscilla Sugianto, L. Aravind, Rajat Rohatgi
Dev Cell. Author manuscript; available in PMC 2015 Mar 10.
Published in final edited form as: Dev Cell. 2014 Mar 10; 28(5): 483–496. Published online 2014 Feb 27. doi: 10.1016/j.devcel.2014.01.021
PMCID:
PMC4027042
AbstractArticlePDF–3.9M
12.
Barrier-to-Autointegration Factor Proteome Reveals Chromatin-Regulatory Partners
Rocío Montes de Oca, Christopher J. Shoemaker, Marjan Gucek, Robert N. Cole, Katherine L. Wilson
PLoS One. 2009; 4(9): e7050. Published online 2009 Sep 16. doi: 10.1371/journal.pone.0007050
PMCID:
PMC2739719
AbstractArticlePDF–509K
13.
Functional Proteomics Mapping of a Human Signaling Pathway
Frédéric Colland, Xavier Jacq, Virginie Trouplin, Christelle Mougin, Caroline Groizeleau, Alexandre Hamburger, Alain Meil, Jérôme Wojcik, Pierre Legrain, Jean-Michel Gauthier
Genome Res. 2004 Jul; 14(7): 1324–1332. doi: 10.1101/gr.2334104
PMCID:
PMC442148
AbstractArticlePDF–290K
14.
DNA Cloning Using In Vitro Site-Specific Recombination
James L. Hartley, Gary F. Temple, Michael A. Brasch
Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000
PMCID:
PMC310948
AbstractArticlePDF–1.7M
15.
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates
Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert
Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644
PMCID:
PMC10565876
AbstractArticlePDF–3.7M
16.
A dynamic protein interaction landscape of the human centrosome-cilium interface
Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier
Cell. Author manuscript; available in PMC 2016 Dec 3.
Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065
PMCID:
PMC5089374
AbstractArticlePDF–1.5M
17.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K
18.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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