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Select item 50655891.

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

Abstract Article PDF–1.1M

Select item 54375572.

Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

Lisa Friedlander, Rémy Choquet, Eva Galliani, Myriam de Chalendar, Claude Messiaen, Amélie Ruel, Marie-Paule Vazquez, Ariane Berdal, Corinne Alberti, Muriel De La Dure Molla

Orphanet J Rare Dis. 2017; 12: 94. Published online 2017 May 19. doi: 10.1186/s13023-017-0650-0

PMCID:: PMC5437557

Abstract Article PDF–1.3M

Select item 42890833.

Evidence of Olfactory Deficits as part of the Phenotypic Spectrum of Nonsyndromic Orofacial Clefting

Maureen A. May, Carla A. Sanchez, Frederic W.B. Deleyiannis, Mary L. Marazita, Seth M. Weinberg

J Craniofac Surg. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: J Craniofac Surg. 2015 Jan; 26(1): 84–86. doi: 10.1097/SCS.0000000000001242

PMCID:: PMC4289083

Abstract Article PDF–130K

Select item 88108754.

Allele-specific transcription factor binding in a cellular model of orofacial clefting

Katharina L. M. Ruff, Ronja Hollstein, Julia Fazaal, Frederic Thieme, Jan Gehlen, Elisabeth Mangold, Michael Knapp, Julia Welzenbach, Kerstin U. Ludwig

Sci Rep. 2022; 12: 1807. Published online 2022 Feb 2. doi: 10.1038/s41598-022-05876-7

PMCID:: PMC8810875

Abstract Article PDF–1.4M

Select item 68128575.

Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft

Lulin Huang, Zhonglin Jia, Yi Shi, Qin Du, Jiayu Shi, Ziyan Wang, Yandong Mou, Qingwei Wang, Bihe Zhang, Qing Wang, Shi Ma, He Lin, Shijun Duan, Bin Yin, Yansong Lin, Yiru Wang, Dan Jiang, Fang Hao, Lin Zhang, Haixin Wang, Suyuan Jiang, Huijuan Xu, Chengwei Yang, Chenghao Li, Jingtao Li, Bing Shi, Zhenglin Yang

PLoS Genet. 2019 Oct; 15(10): e1008357. Published online 2019 Oct 14. doi: 10.1371/journal.pgen.1008357

PMCID:: PMC6812857

Abstract Article PDF–2.3M

Select item 54112086.

Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China

Dongmei Li, Tingting Liu, Xiangbiao Meng, Qiang Guo, Jinna Shi, Yanru Hao, Xiaohui Jiao, Kewen Lv, Tao Song

Medicine (Baltimore) 2017 Apr; 96(14): e6550. Published online 2017 Apr 7. doi: 10.1097/MD.0000000000006550

PMCID:: PMC5411208

Abstract Article PDF–279K

Select item 56082187.

Stage specific requirement of platelet-derived growth factor receptor-α in embryonic development

Chen Qian, Carol Wing Yan Wong, Zhongluan Wu, Qiuming He, Huimin Xia, Paul Kwong Hang Tam, Kenneth Kak Yuen Wong, Vincent Chi Hang Lui

PLoS One. 2017; 12(9): e0184473. Published online 2017 Sep 21. doi: 10.1371/journal.pone.0184473

PMCID:: PMC5608218

Abstract Article PDF–38M

Select item 107018848.

Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders

Brent H. Wyatt, Thomas O. Raymond, Lisa A. Lansdon, Benjamin W. Darbro, Jeffrey C. Murray, John Robert Manak, Amanda J. G. Dickinson

Genesis. Author manuscript; available in PMC 2023 Dec 7.

Published in final edited form as: Genesis. 2021 Feb; 59(1-2): e23394. Published online 2020 Sep 11. doi: 10.1002/dvg.23394

PMCID:: PMC10701884

Abstract Article PDF–2.6M

Select item 69475979.

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

Iris ALM van Rooij, Kerstin U Ludwig, Julia Welzenbach, Nina Ishorst, Michelle Thonissen, Tessel E Galesloot, Edwin Ongkosuwito, Stefaan J Bergé, Khalid Aldhorae, Augusto Rojas-Martinez, Lambertus ALM Kiemeney, Joris Robert Vermeesch, Han Brunner, Nel Roeleveld, Koen Devriendt, Titiaan Dormaar, Greet Hens, Michael Knapp, Carine Carels, Elisabeth Mangold

Genes (Basel) 2019 Dec; 10(12): 1023. Published online 2019 Dec 7. doi: 10.3390/genes10121023

PMCID:: PMC6947597

Abstract Article PDF–1.5M

Select item 530313910.

Determinants of orofacial clefting II: Effects of 5-Aza-2′-deoxycytidine on gene methylation during development of the first branchial arch

Ratnam S. Seelan, Partha Mukhopadhyay, Dennis R. Warner, Irina A. Smolenkova, M. Michele Pisano, Robert M. Greene

Reprod Toxicol. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Reprod Toxicol. 2017 Jan; 67: 100–110. Published online 2016 Dec 5. doi: 10.1016/j.reprotox.2016.11.020

PMCID:: PMC5303139

Abstract Article PDF–1.0M

Select item 927363411.

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate

Waheed Awotoye, Peter A. Mossey, Jacqueline B. Hetmanski, Lord J. J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Azeez Alade, Erliang Zeng, Olawale Adamson, Thirona Naicker, Deepti Anand, Chinyere Adeleke, Tamara Busch, Mary Li, Aline Petrin, Babatunde S. Aregbesola, Ramat O. Braimah, Fadekemi O. Oginni, Ayodeji O. Oladele, Abimbola Oladayo, Sami Kayali, Joy Olotu, Mohaned Hassan, John Pape, Peter Donkor, Fareed K. N. Arthur, Solomon Obiri-Yeboah, Daniel K. Sabbah, Pius Agbenorku, Gyikua Plange-Rhule, Alexander Acheampong Oti, Rose A. Gogal, Terri H. Beaty, Margaret Taub, Mary L. Marazita, Michael J. Schnieders, Salil A. Lachke, Adebowale A. Adeyemo, Jeffrey C. Murray, Azeez Butali

Sci Rep. 2022; 12: 11743. Published online 2022 Jul 11. doi: 10.1038/s41598-022-15885-1

PMCID:: PMC9273634

Abstract Article PDF–3.2M

Select item 1045482012.

Inhibition of Cxcr4 Disrupts Mouse Embryonic Palatal Mesenchymal Cell Migration and Induces Cleft Palate Occurrence

Xiaoyu Zheng, Xige Zhao, Yijia Wang, Jing Chen, Xiaotong Wang, Xia Peng, Li Ma, Juan Du

Int J Mol Sci. 2023 Aug; 24(16): 12740. Published online 2023 Aug 13. doi: 10.3390/ijms241612740

PMCID:: PMC10454820

Abstract Article PDF–9.1M

Select item 511792813.

MSX1 mutations and associated disease phenotypes: genotype-phenotype relations

Jia Liang, Johannes Von den Hoff, Joanna Lange, Yijin Ren, Zhuan Bian, Carine E L Carels

Eur J Hum Genet. 2016 Dec; 24(12): 1663–1670. Published online 2016 Jul 6. doi: 10.1038/ejhg.2016.78

PMCID:: PMC5117928

Abstract Article PDF–1.3M

Select item 575386314.

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans

Lisa A. Lansdon, Benjamin W. Darbro, Aline L. Petrin, Alissa M. Hulstrand, Jennifer M. Standley, Rachel B. Brouillette, Abby Long, M. Adela Mansilla, Robert A. Cornell, Jeffrey C. Murray, Douglas W. Houston, J. Robert Manak

Genetics. 2018 Jan; 208(1): 283–296. Published online 2017 Nov 21. doi: 10.1534/genetics.117.300535

PMCID:: PMC5753863

Abstract Article PDF–1.8M

Select item 507675815.

Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations

L.J.J. Gowans, W.L. Adeyemo, M. Eshete, P.A. Mossey, T. Busch, B. Aregbesola, P. Donkor, F.K.N. Arthur, S.A. Bello, A. Martinez, M. Li, E.A. Augustine-Akpan, W. Deressa, P. Twumasi, J. Olutayo, M. Deribew, P. Agbenorku, A.A. Oti, R. Braimah, G. Plange-Rhule, M. Gesses, S. Obiri-Yeboah, G.O. Oseni, P.B. Olaitan, L. Abdur-Rahman, F. Abate, T. Hailu, P. Gravem, M.O. Ogunlewe, C.J. Buxó, M.L. Marazita, A.A. Adeyemo, J.C. Murray, A. Butali

J Dent Res. 2016 Oct; 95(11): 1245–1256. Published online 2016 Jul 1. doi: 10.1177/0022034516657003

PMCID:: PMC5076758

Abstract Article PDF–328K

Select item 101331916.

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.

J G Hall, H Herrod

J Med Genet. 1975 Dec; 12(4): 397–400. doi: 10.1136/jmg.12.4.397

PMCID:: PMC1013319

Summary Page Browse PDF–969K

Select item 1028755217.

Genetics and orofacial clefts: a clinical perspective

Usha Kini

Br Dent J. 2023; 234(12): 947–952. Published online 2023 Jun 23. doi: 10.1038/s41415-023-5994-3

PMCID:: PMC10287552

Abstract Article PDF–603K

Select item 575580918.

Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate

M.A. Eshete, H. Liu, M. Li, W.L. Adeyemo, L.J.J Gowans, P.A. Mossey, T. Busch, W. Deressa, P. Donkor, P.B. Olaitan, B.S. Aregbesola, R.O. Braimah, G.O. Oseni, F. Oginni, R. Audu, C. Onwuamah, O. James, E. Augustine-Akpan, L.A. Rahman, M.O. Ogunlewe, F.K.N. Arthur, S.A. Bello, P. Agbenorku, P. Twumasi, F. Abate, T. Hailu, Y. Demissie, A. Hailu, G. Plange-Rhule, S. Obiri-Yeboah, M.M. Dunnwald, P.E. Gravem, M.L. Marazita, A.A. Adeyemo, J.C. Murray, R.A. Cornell, A. Butali

J Dent Res. 2018 Jan; 97(1): 41–48. Published online 2017 Sep 8. doi: 10.1177/0022034517729819