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Select item 45106611.

The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: evidence for a protective role

Firoozeh RAFIGHDOOST, Amir RAFIGHDOOST, Houshang RAFIGHDOOST, Mohammad-Ayoob RIGI-LADEZ, Mohammad HASHEMI, Ebrahim ESKANDARI-NASAB

J Appl Oral Sci. 2015 May-Jun; 23(3): 272–278. doi: 10.1590/1678-775720140473

PMCID:: PMC4510661

Abstract Article PDF–267K

Select item 114452862.

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology

Petra Nord, Ashley H. Ebanks, Petra Peterson, Erik Iwarsson, Matthew T. Harting, Carmen Mesas Burgos, For the Congenital Diaphragmatic Hernia Study Group

Pediatr Surg Int. 2024; 40(1): 259. Published online 2024 Oct 1. doi: 10.1007/s00383-024-05843-5

PMCID:: PMC11445286

Abstract Article PDF–690K

Select item 57281763.

Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes

Jenna C. Carlson, Jennifer Standley, Aline Petrin, John R. Shaffer, Azeez Butali, Carmen J. Buxo, Eduardo Castilla, Kaare Christensen, Frederic W-D Deleyiannis, Jacqueline T. Hecht, L. Leigh Field, Ariuntuul Garidkhuu, Lina M. Moreno Uribe, Natsume Nagato, Ieda M. Orioli, Carmencita Padilla, Fernando Poletta, Satoshi Suzuki, Alexandre R. Vieira, George L. Wehby, Seth M. Weinberg, Terri H. Beaty, Eleanor Feingold, Jeffrey C. Murray, Mary L. Marazita, Elizabeth J. Leslie

Genet Epidemiol. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Genet Epidemiol. 2017 Dec; 41(8): 887–897. Published online 2017 Nov 10. doi: 10.1002/gepi.22090

PMCID:: PMC5728176

Abstract Article PDF–1.0M

Select item 55498614.

Identifying genetic sources of phenotypic heterogeneity in orofacial clefts by targeted sequencing

Jenna C. Carlson, Margaret A. Taub, Eleanor Feingold, Terri H. Beaty, Jeffrey C. Murray, Mary L. Marazita, Elizabeth J. Leslie

Birth Defects Res. Author manuscript; available in PMC 2018 Jul 17.

Published in final edited form as: Birth Defects Res. 2017 Jul 17; 109(13): 1030–1038. doi: 10.1002/bdr2.23605

PMCID:: PMC5549861

Abstract Article PDF–1.5M

Select item 53170975.

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

Elizabeth J. Leslie, Jenna C. Carlson, John R. Shaffer, Azeez Butali, Carmen J. Buxó, Eduardo E. Castilla, Kaare Christensen, Fred W.-B. Deleyiannis, L. Leigh Field, Jacqueline T. Hecht, Lina Moreno, Ieda M. Orioli, Carmencita Padilla, Alexandre R. Vieira, George L. Wehby, Eleanor Feingold, Seth M. Weinberg, Jeffrey C. Murray, Terri H. Beaty, Mary L. Marazita

Hum Genet. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Hum Genet. 2017 Mar; 136(3): 275–286. Published online 2017 Jan 4. doi: 10.1007/s00439-016-1754-7

PMCID:: PMC5317097

Abstract Article PDF–1.2M

Select item 52307386.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

Martina M. A. Muggenthaler, Biswajit Chowdhury, S. Naimul Hasan, Harold E. Cross, Brian Mark, Gaurav V. Harlalka, Michael A. Patton, Miho Ishida, Elijah R. Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L. Baple, Fowzan S. Alkuraya, Andrew H. Crosby, Barbara Triggs-Raine, Barry A. Chioza

PLoS Genet. 2017 Jan; 13(1): e1006470. Published online 2017 Jan 12. doi: 10.1371/journal.pgen.1006470

PMCID:: PMC5230738

Abstract Article PDF–1.8M

Select item 51816327.

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

Elizabeth J. Leslie, Jenna C. Carlson, John R. Shaffer, Eleanor Feingold, George Wehby, Cecelia A. Laurie, Deepti Jain, Cathy C. Laurie, Kimberly F. Doheny, Toby McHenry, Judith Resick, Carla Sanchez, Jennifer Jacobs, Beth Emanuele, Alexandre R. Vieira, Katherine Neiswanger, Andrew C. Lidral, Luz Consuelo Valencia-Ramirez, Ana Maria Lopez-Palacio, Dora Rivera Valencia, Mauricio Arcos-Burgos, Andrew E. Czeizel, L. Leigh Field, Carmencita D. Padilla, Eva Maria, C. Cutiongco-de la Paz, Frederic Deleyiannis, Kaare Christensen, Ronald G. Munger, Rolv T. Lie, Allen Wilcox, Paul A. Romitti, Eduardo E. Castilla, Juan C. Mereb, Fernando A. Poletta, Iêda M. Orioli, Flavia M. Carvalho, Jacqueline T. Hecht, Susan H. Blanton, Carmen J. Buxó, Azeez Butali, Peter A. Mossey, Wasiu L. Adeyemo, Olutayo James, Ramat O. Braimah, Babatunde S. Aregbesola, Mekonen A. Eshete, Fikre Abate, Mine Koruyucu, Figen Seymen, Lian Ma, Javier Enríquez de Salamanca, Seth M. Weinberg, Lina Moreno, Jeffrey C. Murray, Mary L. Marazita

Hum Mol Genet. 2016 Jul 1; 25(13): 2862–2872. Published online 2016 Mar 30. doi: 10.1093/hmg/ddw104

PMCID:: PMC5181632

Abstract Article PDF–816K

Select item 48332898.

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 47950489.

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 478814410.

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 469075011.

CIGARETTE SMOKE INDUCES PROTEASOMAL-MEDIATED DEGRADATION OF DNA METHYLTRANSFERASES AND METHYL CpG-/CpG DOMAIN-BINDING PROTEINS IN EMBRYONIC OROFACIAL CELLS

Partha Mukhopadhyay, Robert M. Greene, M. Michele Pisano

Reprod Toxicol. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Reprod Toxicol. 2015 Dec; 58: 140–148. Published online 2015 Oct 22. doi: 10.1016/j.reprotox.2015.10.009

PMCID:: PMC4690750

Abstract Article PDF–730K

Select item 457388512.

The Roles of Hedgehog Signaling in Upper Lip Formation

Hiroshi Kurosaka

Biomed Res Int. 2015; 2015: 901041. Published online 2015 Sep 3. doi: 10.1155/2015/901041

PMCID:: PMC4573885

Abstract Article PDF–2.6M

Select item 453034513.

Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting

B.J. Howe, M.E. Cooper, A.R. Vieira, S.M. Weinberg, J.M. Resick, N.L. Nidey, G.L. Wehby, M.L. Marazita, L.M. Moreno Uribe

J Dent Res. 2015 Jul; 94(7): 905–912. doi: 10.1177/0022034515588281

PMCID:: PMC4530345

Abstract Article PDF–368K

Select item 575580914.

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

PMCID:: PMC5755809

Abstract Article PDF–956K

Select item 440297415.

Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans

Zhonglin Jia, Elizabeth J. Leslie, Margaret E. Cooper, Azeez Butali, Jennifer Standley, Jennifer Rigdon, Satoshi Suzuki1, Ayana Gongorjav, T. Enkhtur Shonkhuuz, Nagato Natsume, Bing Shi, Mary L. Marazita, Jeffrey C. Murray

Am J Med Genet A. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Am J Med Genet A. 2015 May; 167(5): 1054–1060. Published online 2015 Mar 18. doi: 10.1002/ajmg.a.36912

PMCID:: PMC4402974

Abstract Article PDF–221K

Select item 437542016.

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

Elizabeth J. Leslie, Margaret A. Taub, Huan Liu, Karyn Meltz Steinberg, Daniel C. Koboldt, Qunyuan Zhang, Jenna C. Carlson, Jacqueline B. Hetmanski, Hang Wang, David E. Larson, Robert S. Fulton, Youssef A. Kousa, Walid D. Fakhouri, Ali Naji, Ingo Ruczinski, Ferdouse Begum, Margaret M. Parker, Tamara Busch, Jennifer Standley, Jennifer Rigdon, Jacqueline T. Hecht, Alan F. Scott, George L. Wehby, Kaare Christensen, Andrew E. Czeizel, Frederic W.-B. Deleyiannis, Brian C. Schutte, Richard K. Wilson, Robert A. Cornell, Andrew C. Lidral, George M. Weinstock, Terri H. Beaty, Mary L. Marazita, Jeffrey C. Murray

Am J Hum Genet. 2015 Mar 5; 96(3): 397–411. doi: 10.1016/j.ajhg.2015.01.004

PMCID:: PMC4375420

Abstract Article PDF–2.7M

Select item 437069717.

Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate

Zena T. Wolf, Harrison A. Brand, John R. Shaffer, Elizabeth J. Leslie, Boaz Arzi, Cali E. Willet, Timothy C. Cox, Toby McHenry, Nicole Narayan, Eleanor Feingold, Xioajing Wang, Saundra Sliskovic, Nili Karmi, Noa Safra, Carla Sanchez, Frederic W. B. Deleyiannis, Jeffrey C. Murray, Claire M. Wade, Mary L. Marazita, Danika L. Bannasch

PLoS Genet. 2015 Mar; 11(3): e1005059. Published online 2015 Mar 23. doi: 10.1371/journal.pgen.1005059

PMCID:: PMC4370697

Abstract Article PDF–974K

Select item 416484418.

Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate

Kamil K. Hozyasz, Adrianna Mostowska, Piotr Wójcicki, Agnieszka Lasota, Barbara Offert, Adam Balcerek, Izabella Dunin-Wilczyńska, Paweł P. Jagodziński

Fam Cancer. 2014; 13(3): 415–421. Published online 2014 May 17. doi: 10.1007/s10689-014-9727-2

PMCID:: PMC4164844

Abstract Article PDF–544K

Select item 402589619.

Exploratory genotype–phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate

Steven F Miller, Seth M Weinberg, Nichole L Nidey, David K Defay, Mary L Marazita, George L Wehby, Lina M Moreno Uribe

J Anat. 2014 Jun; 224(6): 688–709. Published online 2014 Apr 16. doi: 10.1111/joa.12182

PMCID:: PMC4025896

Abstract Article PDF–1.4M

Select item 376016320.

The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

Mary L. Marazita

Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2013 Sep 3.

Published in final edited form as: Annu Rev Genomics Hum Genet. 2012; 13: 263–283. Published online 2012 Jun 6. doi: 10.1146/annurev-genom-090711-163729