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Items: 1 to 20 of 26

1.
Association between craniofacial morphological patterns and tooth agenesis-related genes
Amanda Silva Rodrigues, Ellen Cardoso Teixeira, Leonardo Santos Antunes, Paulo Nelson-Filho, Arthur Silva Cunha, Simone Carvalho Levy, Mônica Tirre de Souza Araújo, Alice Gomes de Carvalho Ramos, Giuseppe Valduga Cruz, Marjorie Ayumi Omori, Mírian Aiko Nakane Matsumoto, Alexandre Rezende Vieira, Erika Calvano Küchler, Guido Artemio Marañón-Vásquez, Lívia Azeredo Alves Antunes
Prog Orthod. 2020; 21: 9. Published online 2020 Apr 6. doi: 10.1186/s40510-020-00309-5
PMCID:
PMC7131971
AbstractArticlePDF–424K
2.
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis
N. Dinckan, R. Du, L.E. Petty, Z. Coban-Akdemir, S.N. Jhangiani, I. Paine, E.H. Baugh, A.P. Erdem, H. Kayserili, H. Doddapaneni, J. Hu, D.M. Muzny, E. Boerwinkle, R.A. Gibbs, J.R. Lupski, Z.O. Uyguner, J.E. Below, A. Letra
J Dent Res. 2018 Jan; 97(1): 49–59. Published online 2017 Aug 16. doi: 10.1177/0022034517724149
PMCID:
PMC6728545
AbstractArticlePDF–1.0M
3.
Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report
Jamila Ross, Willem Fennis, Nicole de Leeuw, Marco Cune, Annemieke Willemze, Antoine Rosenberg, Hans‐Kristian Ploos van Amstel, Marijn Créton, Marie‐José van den Boogaard
Mol Genet Genomic Med. 2019 Jun; 7(6): e679. Published online 2019 Apr 4. doi: 10.1002/mgg3.679
PMCID:
PMC6565550
AbstractArticlePDF–797K
4.
Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta
Daniela Adorno-Farias, Ana Ortega-Pinto, Paulina Gajardo, Ana Salazar, Irene Morales-Bozo, Fabiola Werlinger, Sandra Rojas-Flores, Alfredo Molina-Berríos, Sonia Echeverría-López, José Jara-Sandoval, Lilian Jara, Blanca Urzúa
J Appl Oral Sci. 2019; 27: e20180359. Published online 2019 Apr 1. doi: 10.1590/1678-7757-2018-0359
PMCID:
PMC6442841
AbstractArticlePDF–785K
5.
Genetic analysis: Wnt and other pathways in non-syndromic tooth agenesis
Miao Yu, Sing-Wai Wong, Dong Han, Tao Cai
Oral Dis. Author manuscript; available in PMC 2020 Apr 1.
Published in final edited form as: Oral Dis. 2019 Apr; 25(3): 646–651. Published online 2018 Jul 23. doi: 10.1111/odi.12931
PMCID:
PMC6318069
AbstractArticlePDF–492K
6.
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
Renqian Du, Nuriye Dinckan, Xiaofei Song, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Lauren E. Petty, Donna M. Muzny, Jennifer E. Below, Eric Boerwinkle, Nan Wu, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Ariadne Letra, Z. Oya Uyguner
Hum Genet. Author manuscript; available in PMC 2019 Sep 1.
Published in final edited form as: Hum Genet. 2018 Sep; 137(9): 689–703. Published online 2018 Jul 26. doi: 10.1007/s00439-018-1907-y
PMCID:
PMC6165673
AbstractArticlePDF–942K
7.
The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis
Meredith A. Williams, Ariadne Letra
Genes (Basel) 2018 May; 9(5): 255. Published online 2018 May 16. doi: 10.3390/genes9050255
PMCID:
PMC5977195
AbstractArticlePDF–7.3M
8.
A Biallelic ANTXR1 Variant Expands the Anthrax Toxin Receptor Associated Phenotype to Tooth Agenesis
Nuriye Dinckan, Renqian Du, Zeynep Coban Akdemir, Yavuz Bayram, Shalini Jhiangiani, Harsha Doddapaneni, Jianhong Hu, Donna M. Muzny, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Eric Boerwinkle, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Zehra Oya Uyguner, Ariadne Letra
Am J Med Genet A. Author manuscript; available in PMC 2019 Apr 1.
Published in final edited form as: Am J Med Genet A. 2018 Apr; 176(4): 1015–1022. Published online 2018 Feb 13. doi: 10.1002/ajmg.a.38625
PMCID:
PMC5933053
AbstractArticlePDF–714K
9.
Role of WNT10A in failure of tooth development in humans and zebrafish
Qiuping Yuan, Min Zhao, Bhavna Tandon, Lorena Maili, Xiaoming Liu, Anqi Zhang, Evan H. Baugh, Tam Tran, Renato M. Silva, Jacqueline T. Hecht, Eric C. Swindell, Daniel S. Wagner, Ariadne Letra
Mol Genet Genomic Med. 2017 Nov; 5(6): 730–741. Published online 2017 Sep 14. doi: 10.1002/mgg3.332
PMCID:
PMC5702573
AbstractArticlePDF–2.1M
10.
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis
Binghui Zeng, Qi Zhao, Sijie Li, Hui Lu, Jiaxuan Lu, Lan Ma, Wei Zhao, Dongsheng Yu
Genes (Basel) 2017 Oct; 8(10): 259. Published online 2017 Oct 5. doi: 10.3390/genes8100259
PMCID:
PMC5664109
AbstractArticlePDF–7.0M
11.
Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis
Akiko Murakami, Shinji Yasuhira, Hisayo Mayama, Hiroyuki Miura, Chihaya Maesawa, Kazuro Satoh
PLoS One. 2017; 12(10): e0186260. Published online 2017 Oct 12. doi: 10.1371/journal.pone.0186260
PMCID:
PMC5638407
AbstractArticlePDF–2.1M
12.
Amelogenesis Imperfecta; Genes, Proteins, and Pathways
Claire E. L. Smith, James A. Poulter, Agne Antanaviciute, Jennifer Kirkham, Steven J. Brookes, Chris F. Inglehearn, Alan J. Mighell
Front Physiol. 2017; 8: 435. Published online 2017 Jun 26. doi: 10.3389/fphys.2017.00435
PMCID:
PMC5483479
AbstractArticlePDF–2.9M
13.
Hypodontia: An Update on Its Etiology, Classification, and Clinical Management
Azza Husam Al-Ani, Joseph Safwat Antoun, William Murray Thomson, Tony Raymond Merriman, Mauro Farella
Biomed Res Int. 2017; 2017: 9378325. Published online 2017 Mar 19. doi: 10.1155/2017/9378325
PMCID:
PMC5376450
AbstractArticlePDF–954K
14.
Tooth agenesis and orofacial clefting: genetic brothers in arms?
M. Phan, F. Conte, K. D. Khandelwal, C. W. Ockeloen, T. Bartzela, T. Kleefstra, H. van Bokhoven, M. Rubini, H. Zhou, C. E. L. Carels
Hum Genet. 2016; 135(12): 1299–1327. Published online 2016 Oct 3. doi: 10.1007/s00439-016-1733-z
PMCID:
PMC5065589
AbstractArticlePDF–1.1M
15.
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis
Alon Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas-Volkov, Marina Eskin-Schwartz, Christopher A. Adase, Natalia Malchin, Ron Bochner, Gilad Fainberg, Ilan Goldberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, Chen Luxenburg, Noam Adir, Olivier Duverger, Maria Morasso, Stavit Shalev, Richard L. Gallo, Noam Shomron, Ralf Paus, Eli Sprecher
PLoS Genet. 2016 Oct; 12(10): e1006369. Published online 2016 Oct 13. doi: 10.1371/journal.pgen.1006369
PMCID:
PMC5065119
AbstractArticlePDF–2.4M
16.
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families
Yasmin A Issa, Lara Kamal, Amal Abu Rayyan, Dima Dweik, Sarah Pierce, Ming K Lee, Mary-Claire King, Tom Walsh, Moien Kanaan
Eur J Hum Genet. 2016 Oct; 24(10): 1430–1435. Published online 2016 Apr 6. doi: 10.1038/ejhg.2016.29
PMCID:
PMC5027678
AbstractArticlePDF–1.0M
17.
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
Charlotte W. Ockeloen, Kriti D. Khandelwal, Karoline Dreesen, Kerstin U. Ludwig, Robert Sullivan, Iris A.L.M. van Rooij, Michelle Thonissen, Steven Swinnen, Milien Phan, Federica Conte, Nina Ishorst, Christian Gilissen, Laury RoaFuentes, Maartje van de Vorst, Arjen Henkes, Marloes Steehouwer, Ellen van Beusekom, Marjon Bloemen, Bruno Vankeirsbilck, Stefaan Bergé, Greet Hens, Joseph Schoenaers, Vincent Vander Poorten, Jasmien Roosenboom, An Verdonck, Koen Devriendt, Nel Roeleveldt, Shalini N. Jhangiani, Lisenka E.L.M. Vissers, James R. Lupski, Joep de Ligt, Johannes W. Von den Hoff, Rolph Pfundt, Han G. Brunner, Huiqing Zhou, Jill Dixon, Elisabeth Mangold, Hans van Bokhoven, Michael J. Dixon, Tjitske Kleefstra, Alexander Hoischen, Carine E.L. Carels
Genet Med. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: Genet Med. 2016 Nov; 18(11): 1158–1162. Published online 2016 Mar 10. doi: 10.1038/gim.2016.10
PMCID:
PMC5018235
AbstractArticlePDF–588K
18.
Mutations in WNT10B Are Identified in Individuals with Oligodontia
Ping Yu, Wenli Yang, Dong Han, Xi Wang, Sen Guo, Jinchen Li, Fang Li, Xiaoxia Zhang, Sing-Wai Wong, Baojing Bai, Yao Liu, Jie Du, Zhong Sheng Sun, Songtao Shi, Hailan Feng, Tao Cai
Am J Hum Genet. 2016 Jul 7; 99(1): 195–201. Published online 2016 Jun 16. doi: 10.1016/j.ajhg.2016.05.012
PMCID:
PMC5005437
AbstractArticlePDF–1.4M
19.
Timing, rates and spectra of human germline mutation
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet. Author manuscript; available in PMC 2016 Jun 14.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
AbstractArticlePDF–1.6M
20.
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia
Maarten P.G. Massink, Marijn A. Créton, Francesca Spanevello, Willem M.M. Fennis, Marco S. Cune, Sanne M.C. Savelberg, Isaäc J. Nijman, Madelon M. Maurice, Marie-José H. van den Boogaard, Gijs van Haaften
Am J Hum Genet. 2015 Oct 1; 97(4): 621–626. Published online 2015 Sep 17. doi: 10.1016/j.ajhg.2015.08.014
PMCID:
PMC4596913
AbstractArticlePDF–722K

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