PMC Articles for MedGen (Select 318860) - PMC

Mary Li, Joy Olotu, Carmen J. Buxo-Martinez, Peter A. Mossey, Deepti Anand, Tamara Busch, Azeez Alade, Lord J. J. Gowans, Mekonen Eshete, Wasiu L. Adeyemo, Thirona Naicker, Waheed O. Awotoye, Sagar Gupta, Chinyere Adeleke, Valeria Bravo, Siyong Huang, Olatunbosun O. Adamson, Ada M. Toraño, Carolina A. Bello, Mairim Soto, Marilyn Soto, Ricardo Ledesma, Myrellis Marquez, Jose F. Cordero, Lydia M. Lopez-Del Valle, Maria I. Salcedo, Natalio Debs, Aline Petrin, Hannah Malloy, Khalid Elhadi, Olutayo James, Mobolanle O. Ogunlewe, Fekir Abate, Abiye Hailu, Ibrahim Mohammed, Paul Gravem, Milliard Deribew, Mulualem Gesses, Mohaned Hassan, John Pape, Solomon Obiri-Yeboah, Fareed K. N. Arthur, Alexander A. Oti, Peter Donkor, Mary L. Marazita, Salil A. Lachke, Adebowale A. Adeyemo, Jeffrey C. Murray, Azeez Butali

Oral Dis. Author manuscript; available in PMC 2023 Oct 1.

Published in final edited form as: Oral Dis. 2022 Oct; 28(7): 1921–1935. Published online 2021 Jun 21. doi: 10.1111/odi.13932

PMCID:: PMC9733635

Abstract Article PDF–568K

Select item 50767584.

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 69926675.

Methylenetetrahydrofolate reductase C677T polymorphism is not associated with the risk of nonsyndromic cleft lip/palate: An updated meta-analysis

Mohammad Moslem Imani, Negin Golchin, Mohsen Safaei, Farzad Rezaei, Hooshyar Abbasi, Masoud Sadeghi, Pia Lopez-Jornet, Hamid Reza Mozaffari, Roohollah Sharifi

Sci Rep. 2020; 10: 1531. Published online 2020 Jan 30. doi: 10.1038/s41598-020-58357-0

PMCID:: PMC6992667

Abstract Article PDF–5.7M

Select item 61128966.

Chromosomal microarray analysis in the prenatal diagnosis of orofacial clefts: Experience from a single medical center in mainland China

Han Jin, Cui Yingqiu, Liu Zequn, Huang Yanjun, Zhang Yunyan, Zhao Shufan, Chen Yiyang, Li Ru, Zhen Li, Zhang Yongling, Wang Hongtao, Liao Can

Medicine (Baltimore) 2018 Aug; 97(34): e12057. Published online 2018 Aug 24. doi: 10.1097/MD.0000000000012057

PMCID:: PMC6112896

Abstract Article PDF–182K

Select item 93384707.

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder

Ingrid Anne Mandy Schierz, Salvatore Amoroso, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Gregorio Serra, Giovanni Corsello

Ital J Pediatr. 2022; 48: 132. Published online 2022 Jul 29. doi: 10.1186/s13052-022-01330-6

PMCID:: PMC9338470

Abstract Article PDF–1.0M

Select item 49613908.

Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population

Miao He, Zhuan Bian

PLoS One. 2016; 11(7): e0159940. Published online 2016 Jul 26. doi: 10.1371/journal.pone.0159940

PMCID:: PMC4961390

Abstract Article PDF–178K

Select item 61601839.

Ept7, a quantitative trait locus that controls estrogen-induced pituitary lactotroph hyperplasia in rat, is orthologous to a locus in humans that has been associated with numerous cancer types and common diseases

Kirsten L. Dennison, Aaron C. Chack, Maureen Peters Hickman, Quincy Eckert Harenda, James D. Shull

PLoS One. 2018; 13(9): e0204727. Published online 2018 Sep 27. doi: 10.1371/journal.pone.0204727

PMCID:: PMC6160183

Abstract Article PDF–1.4M

Select item 618576210.

Genome Wide Interaction Studies Identify Sex-Specific Risk Alleles for Nonsyndromic Orofacial Clefts

Jenna C. Carlson, Nichole L. Nidey, Azeez Butali, Carmen J. Buxo, Kaare Christensen, Frederic W-D Deleyiannis, Jacqueline T. Hecht, L. Leigh Field, Lina M. Moreno-Uribe, Ieda M. Orioli, Fernando A. Poletta, Carmencita Padilla, Alexandre R. Vieira, Seth M. Weinberg, George L. Wehby, Eleanor Feingold, Jeffrey C. Murray, Mary L. Marazita, Elizabeth J. Leslie

Genet Epidemiol. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Genet Epidemiol. 2018 Oct; 42(7): 664–672. Published online 2018 Sep 11. doi: 10.1002/gepi.22158

PMCID:: PMC6185762

Abstract Article PDF–269K

Select item 483328911.

DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis

Bonnie R. Joubert, Janine F. Felix, Paul Yousefi, Kelly M. Bakulski, Allan C. Just, Carrie Breton, Sarah E. Reese, Christina A. Markunas, Rebecca C. Richmond, Cheng-Jian Xu, Leanne K. Küpers, Sam S. Oh, Cathrine Hoyo, Olena Gruzieva, Cilla Söderhäll, Lucas A. Salas, Nour Baïz, Hongmei Zhang, Johanna Lepeule, Carlos Ruiz, Symen Ligthart, Tianyuan Wang, Jack A. Taylor, Liesbeth Duijts, Gemma C. Sharp, Soesma A. Jankipersadsing, Roy M. Nilsen, Ahmad Vaez, M. Daniele Fallin, Donglei Hu, Augusto A. Litonjua, Bernard F. Fuemmeler, Karen Huen, Juha Kere, Inger Kull, Monica Cheng Munthe-Kaas, Ulrike Gehring, Mariona Bustamante, Marie José Saurel-Coubizolles, Bilal M. Quraishi, Jie Ren, Jörg Tost, Juan R. Gonzalez, Marjolein J. Peters, Siri E. Håberg, Zongli Xu, Joyce B. van Meurs, Tom R. Gaunt, Marjan Kerkhof, Eva Corpeleijn, Andrew P. Feinberg, Celeste Eng, Andrea A. Baccarelli, Sara E. Benjamin Neelon, Asa Bradman, Simon Kebede Merid, Anna Bergström, Zdenko Herceg, Hector Hernandez-Vargas, Bert Brunekreef, Mariona Pinart, Barbara Heude, Susan Ewart, Jin Yao, Nathanaël Lemonnier, Oscar H. Franco, Michael C. Wu, Albert Hofman, Wendy McArdle, Pieter Van der Vlies, Fahimeh Falahi, Matthew W. Gillman, Lisa F. Barcellos, Ashish Kumar, Magnus Wickman, Stefano Guerra, Marie-Aline Charles, John Holloway, Charles Auffray, Henning W. Tiemeier, George Davey Smith, Dirkje Postma, Marie-France Hivert, Brenda Eskenazi, Martine Vrijheid, Hasan Arshad, Josep M. Antó, Abbas Dehghan, Wilfried Karmaus, Isabella Annesi-Maesano, Jordi Sunyer, Akram Ghantous, Göran Pershagen, Nina Holland, Susan K. Murphy, Dawn L. DeMeo, Esteban G. Burchard, Christine Ladd-Acosta, Harold Snieder, Wenche Nystad, Gerard H. Koppelman, Caroline L. Relton, Vincent W.V. Jaddoe, Allen Wilcox, Erik Melén, Stephanie J. London

Am J Hum Genet. 2016 Apr 7; 98(4): 680–696. Published online 2016 Mar 31. doi: 10.1016/j.ajhg.2016.02.019

PMCID:: PMC4833289

Abstract Article PDF–609K

Select item 483321412.

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

Elisabeth Mangold, Anne C. Böhmer, Nina Ishorst, Ann-Kathrin Hoebel, Pinar Gültepe, Hannah Schuenke, Johanna Klamt, Andrea Hofmann, Lina Gölz, Ruth Raff, Peter Tessmann, Stefanie Nowak, Heiko Reutter, Alexander Hemprich, Thomas Kreusch, Franz-Josef Kramer, Bert Braumann, Rudolf Reich, Gül Schmidt, Andreas Jäger, Rudolf Reiter, Sibylle Brosch, Janis Stavusis, Miho Ishida, Rimante Seselgyte, Gudrun E. Moore, Markus M. Nöthen, Guntram Borck, Khalid A. Aldhorae, Baiba Lace, Philip Stanier, Michael Knapp, Kerstin U. Ludwig

Am J Hum Genet. 2016 Apr 7; 98(4): 755–762. Published online 2016 Mar 24. doi: 10.1016/j.ajhg.2016.02.013

PMCID:: PMC4833214

Abstract Article PDF–447K

Select item 951663013.

Spatiotemporal MicroRNA-Gene Expression Network Related to Orofacial Clefts

F. Yan, L.M. Simon, A. Suzuki, C. Iwaya, P. Jia, J. Iwata, Z. Zhao

J Dent Res. 2022 Oct; 101(11): 1398–1407. Published online 2022 Jun 30. doi: 10.1177/00220345221105816

PMCID:: PMC9516630

Abstract Article PDF–3.2M

Select item 479504814.

Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

Ingeborg Barisic, Ljubica Boban, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Jorieke EH Bergman, Paula Braz, Elizabeth S Draper, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Anna Pierini, Annette Queisser-Luft, Judith Rankin, Anke Rissmann, Christine Verellen-Dumoulin

Eur J Hum Genet. 2015 Jun; 23(6): 746–752. Published online 2014 Sep 3. doi: 10.1038/ejhg.2014.174

PMCID:: PMC4795048

Abstract Article PDF–306K

Select item 478814415.

Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

Kerstin U. Ludwig, Syeda Tasnim Ahmed, Anne C. Böhmer, Nasim Bahram Sangani, Sheryil Varghese, Johanna Klamt, Hannah Schuenke, Pinar Gültepe, Andrea Hofmann, Michele Rubini, Khalid Ahmed Aldhorae, Regine P. Steegers-Theunissen, Augusto Rojas-Martinez, Rudolf Reiter, Guntram Borck, Michael Knapp, Mitsushiro Nakatomi, Daniel Graf, Elisabeth Mangold, Heiko Peters

PLoS Genet. 2016 Mar; 12(3): e1005914. Published online 2016 Mar 11. doi: 10.1371/journal.pgen.1005914

PMCID:: PMC4788144

Abstract Article PDF–967K

Select item 477452816.

Ectodermal Wnt Controls Nasal Pit Morphogenesis Through Modulation of the BMP/FGF/JNK Signaling Axis

Xiao-Jing Zhu, Yudong Liu, Xueyan Yuan, Min Wang, Wanxin Zhao, Xueqin Yang, Xiaoyun Zhang, Wei Hsu, Mengsheng Qiu, Ze Zhang, Zunyi Zhang

Dev Dyn. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Dev Dyn. 2016 Mar; 245(3): 414–426. Published online 2016 Jan 8. doi: 10.1002/dvdy.24376

PMCID:: PMC4774528

Abstract Article PDF–1.7M

Select item 518009217.

Validation of a genome-wide association study implied that SHTIN1 may involve in the pathogenesis of NSCL/P in Chinese population

Yirui Wang, Yimin Sun, Yongqing Huang, Yongchu Pan, Aihua Yin, Bing Shi, Xuefei Du, Lan Ma, Feifei Lan, Min Jiang, Jiayu Shi, Lei Zhang, Xue Xiao, Zhongwei Zhou, Hongbing Jiang, Lin Wang, Yinxue Yang, Jing Cheng

Sci Rep. 2016; 6: 38872. Published online 2016 Dec 23. doi: 10.1038/srep38872

PMCID:: PMC5180092

Abstract Article PDF–390K

Select item 475579118.

Toward an Orofacial Gene Regulatory Network

Youssef A. Kousa, Brian C. Schutte

Dev Dyn. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Dev Dyn. 2016 Mar; 245(3): 220–232. Published online 2015 Sep 17. doi: 10.1002/dvdy.24341

PMCID:: PMC4755791

Abstract Article PDF–1.2M

Select item 475165219.

Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population

Nurul Syazana Mohamad Shah, Iman Salahshourifar, Sarina Sulong, Wan Azman Wan Sulaiman, Ahmad Sukari Halim

BMC Genet. 2016; 17: 39. Published online 2016 Feb 11. doi: 10.1186/s12863-016-0345-x

PMCID:: PMC4751652

Abstract Article PDF–1.0M

Select item 472623120.

SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination

Nathan R. Wilson, Adam J. Olm-Shipman, Diana S. Acevedo, Kanagaraj Palaniyandi, Everett G. Hall, Edina Kosa, Kelly M. Stumpff, Guerin J. Smith, Lenore Pitstick, Eric C. Liao, Bryan C. Bjork, Andras Czirok, Irfan Saadi

Sci Rep. 2016; 6: 17735. Published online 2016 Jan 20. doi: 10.1038/srep17735

PMCID:: PMC4726231

Abstract Article PDF–2.7M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity