ABCA4 c.769-4441G>A

Variant ID: 1-94553438-C-T

NM_000350.2(ABCA4):c.769-4441G>A

This variant was identified in 46 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs560426
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Association of Blood MCP-1 Levels with Risk of Obstructive Sleep Apnea: A Systematic Review and Meta-Analysis.

Medicina (Kaunas, Lithuania)
Imani, Mohammad Moslem MM; Sadeghi, Masoud M; Mohammadi, Mehdi M; Brühl, Annette Beatrix AB; Sadeghi-Bahmani, Dena D; Brand, Serge S
Publication Date: 2022-09-13

Variant appearance in text: rs560426
PubMed Link: 36143943
Variant Present in the following documents:
  • medicina-58-01266.pdf
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Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population.

Frontiers In Genetics
Li, Mu-Jia MJ; Shi, Jia-Yu JY; Zhang, Bi-He BH; Chen, Qian-Ming QM; Shi, Bing B; Jia, Zhong-Lin ZL
Publication Date: 2022

Variant appearance in text: rs560426
PubMed Link: 36061182
Variant Present in the following documents:
  • Main text
  • fgene-13-947126.pdf
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Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.

Scientific Reports
Slavec, Lara L; Karas Kuželički, Nataša N; Locatelli, Igor I; Geršak, Ksenija K
Publication Date: 2022-01-24

Variant appearance in text: rs560426
PubMed Link: 35075162
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2159.pdf
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Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.

Scientific Reports
Slavec, Lara L; Karas Kuželički, Nataša N; Locatelli, Igor I; Geršak, Ksenija K
Publication Date: 2022-01-24

Variant appearance in text: rs560426
PubMed Link: 35075162
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2159.pdf
View BVdb publication page



Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population.

International Journal Of Environmental Research And Public Health
Zawiślak, Alicja A; Woźniak, Krzysztof K; Agirre, Xabier X; Gupta, Satish S; Kawala, Beata B; Znamirowska-Bajowska, Anna A; Grocholewicz, Katarzyna K; Lubiński, Jan J; Prosper, Felipe F; Jakubowska, Anna A
Publication Date: 2021-10-31

Variant appearance in text: rs560426
PubMed Link: 34769998
Variant Present in the following documents:
  • Main text
  • ijerph-18-11483.pdf
View BVdb publication page



Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses.

Journal Of Korean Medical Science
Lee, Kyung Shin KS; Choi, Yoon Jung YJ; Cho, Jinwoo J; Lee, Hyunji H; Lee, Heejin H; Park, Soo Jin SJ; Park, Joong Shin JS; Hong, Yun Chul YC
Publication Date: 2021-07-19

Variant appearance in text: rs560426
PubMed Link: 34282604
Variant Present in the following documents:
  • Main text
  • jkms-36-e183.pdf
View BVdb publication page



Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis.

Life (Basel, Switzerland)
Imani, Mohammad Moslem MM; Sadeghi, Masoud M; Tadakamadla, Santosh Kumar SK; Brühl, Annette A; Sadeghi Bahmani, Dena D; Taheri, Mohammad M; Brand, Serge S
Publication Date: 2021-01-15

Variant appearance in text: rs560426
PubMed Link: 33467554
Variant Present in the following documents:
  • Main text
  • life-11-00058.pdf
View BVdb publication page



Association analysis of GWAS hits and non-syndromic cleft lip with/without palate with cleft alveolar in Han population of western China.

International Journal Of Clinical And Experimental Pathology
Duan, Shijun S; Shi, Jiayu J; Shi, Bing B; Jia, Zhonglin Z
Publication Date: 2020

Variant appearance in text: rs560426
PubMed Link: 33165418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-methylation interactions: discovering region-wise DNA methylation levels that modify SNP-associated disease risk.

Clinical Epigenetics
Romanowska, Julia J; Haaland, Øystein A ØA; Jugessur, Astanand A; Gjerdevik, Miriam M; Xu, Zongli Z; Taylor, Jack J; Wilcox, Allen J AJ; Jonassen, Inge I; Lie, Rolv T RT; Gjessing, Håkon K HK
Publication Date: 2020-07-16

Variant appearance in text: rs560426
PubMed Link: 32678018
Variant Present in the following documents:
  • Main text
  • 13148_2020_Article_881.pdf
  • 13148_2020_881_MOESM1_ESM.pdf
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DOT: Gene-set analysis by combining decorrelated association statistics.

Plos Computational Biology
Vsevolozhskaya, Olga A OA; Shi, Min M; Hu, Fengjiao F; Zaykin, Dmitri V DV
Publication Date: 2020-04

Variant appearance in text: rs560426
PubMed Link: 32287273
Variant Present in the following documents:
  • Main text
  • pcbi.1007819.pdf
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Gene-gene interactions between BMP4 and ARHGAP29 among non-syndromic cleft lip only (NSCLO) trios from western Han Chinese population.

International Journal Of Clinical And Experimental Pathology
Wang, Yiru Y; Shi, Jiayu J; Zheng, Qian Q; Shi, Bing B; Jia, Zhonglin Z
Publication Date: 2020

Variant appearance in text: rs560426
PubMed Link: 32211112
Variant Present in the following documents:
  • Main text
View BVdb publication page



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.

Genes
van Rooij, Iris Alm IA; Ludwig, Kerstin U KU; Welzenbach, Julia J; Ishorst, Nina N; Thonissen, Michelle M; Galesloot, Tessel E TE; Ongkosuwito, Edwin E; Bergé, Stefaan J SJ; Aldhorae, Khalid K; Rojas-Martinez, Augusto A; Kiemeney, Lambertus Alm LA; Vermeesch, Joris Robert JR; Brunner, Han H; Roeleveld, Nel N; Devriendt, Koen K; Dormaar, Titiaan T; Hens, Greet G; Knapp, Michael M; Carels, Carine C; Mangold, Elisabeth E
Publication Date: 2019-12-07

Variant appearance in text: rs560426
PubMed Link: 31817908
Variant Present in the following documents:
  • Main text
  • genes-10-01023.pdf
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Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.

Plos Genetics
Huang, Lulin L; Jia, Zhonglin Z; Shi, Yi Y; Du, Qin Q; Shi, Jiayu J; Wang, Ziyan Z; Mou, Yandong Y; Wang, Qingwei Q; Zhang, Bihe B; Wang, Qing Q; Ma, Shi S; Lin, He H; Duan, Shijun S; Yin, Bin B; Lin, Yansong Y; Wang, Yiru Y; Jiang, Dan D; Hao, Fang F; Zhang, Lin L; Wang, Haixin H; Jiang, Suyuan S; Xu, Huijuan H; Yang, Chengwei C; Li, Chenghao C; Li, Jingtao J; Shi, Bing B; Yang, Zhenglin Z
Publication Date: 2019-10

Variant appearance in text: rs560426
PubMed Link: 31609978
Variant Present in the following documents:
  • Main text
  • pgen.1008357.pdf
View BVdb publication page



MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics
Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J
Publication Date: 2019-07-01

Variant appearance in text: rs560426
PubMed Link: 31262291
Variant Present in the following documents:
  • 12920_2019_546_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft.

Genomics, Proteomics & Bioinformatics
Zhang, Shi-Jian SJ; Meng, Peiqi P; Zhang, Jieni J; Jia, Peizeng P; Lin, Jiuxiang J; Wang, Xiangfeng X; Chen, Feng F; Wei, Xiaoxing X
Publication Date: 2018-10

Variant appearance in text: rs560426
PubMed Link: 30578914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic analyses in African populations identify novel risk loci for cleft palate.

Human Molecular Genetics
Butali, Azeez A; Mossey, Peter A PA; Adeyemo, Wasiu L WL; Eshete, Mekonen A MA; Gowans, Lord J J LJJ; Busch, Tamara D TD; Jain, Deepti D; Yu, Wenjie W; Huan, Liu L; Laurie, Cecelia A CA; Laurie, Cathy C CC; Nelson, Sarah S; Li, Mary M; Sanchez-Lara, Pedro A PA; Magee, William P WP; Magee, Kathleen S KS; Auslander, Allyn A; Brindopke, Frederick F; Kay, Denise M DM; Caggana, Michele M; Romitti, Paul A PA; Mills, James L JL; Audu, Rosemary R; Onwuamah, Chika C; Oseni, Ganiyu O GO; Owais, Arwa A; James, Olutayo O; Olaitan, Peter B PB; Aregbesola, Babatunde S BS; Braimah, Ramat O RO; Oginni, Fadekemi O FO; Oladele, Ayodeji O AO; Bello, Saidu A SA; Rhodes, Jennifer J; Shiang, Rita R; Donkor, Peter P; Obiri-Yeboah, Solomon S; Arthur, Fareed Kow Nanse FKN; Twumasi, Peter P; Agbenorku, Pius P; Plange-Rhule, Gyikua G; Oti, Alexander Acheampong AA; Ogunlewe, Olugbenga M OM; Oladega, Afisu A AA; Adekunle, Adegbayi A AA; Erinoso, Akinwunmi O AO; Adamson, Olatunbosun O OO; Elufowoju, Abosede A AA; Ayelomi, Oluwanifemi I OI; Hailu, Taiye T; Hailu, Abiye A; Demissie, Yohannes Y; Derebew, Miliard M; Eliason, Steve S; Romero-Bustillous, Miguel M; Lo, Cynthia C; Park, James J; Desai, Shaan S; Mohammed, Muiawa M; Abate, Firke F; Abdur-Rahman, Lukman O LO; Anand, Deepti D; Saadi, Irfaan I; Oladugba, Abimibola V AV; Lachke, Salil A SA; Amendt, Brad A BA; Rotimi, Charles N CN; Marazita, Mary L ML; Cornell, Robert A RA; Murray, Jeffrey C JC; Adeyemo, Adebowale A AA
Publication Date: 2019-03-15

Variant appearance in text: rs560426
PubMed Link: 30452639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation.

Frontiers In Genetics
Indencleef, Karlijne K; Roosenboom, Jasmien J; Hoskens, Hanne H; White, Julie D JD; Shriver, Mark D MD; Richmond, Stephen S; Peeters, Hilde H; Feingold, Eleanor E; Marazita, Mary L ML; Shaffer, John R JR; Weinberg, Seth M SM; Hens, Greet G; Claes, Peter P
Publication Date: 2018

Variant appearance in text: rs560426
PubMed Link: 30410503
Variant Present in the following documents:
  • Main text
  • fgene-09-00502.pdf
View BVdb publication page



Non-syndromic Cleft Lip and Palate Polymorphisms Affect Normal Lip Morphology.

Frontiers In Genetics
Wilson-Nagrani, Caryl C; Richmond, Stephen S; Paternoster, Lavinia L
Publication Date: 2018

Variant appearance in text: rs560426
PubMed Link: 30405682
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dental genetics in Brazil: Where we are.

Molecular Genetics & Genomic Medicine
Casado, Priscila L PL; Quinelato, Valquiria V; Cataldo, Patricia P; Prazeres, Juliana J; Campello, Mariana M; Bonato, Leticia L LL; Aguiar, Telma T
Publication Date: 2018-09

Variant appearance in text: rs560426
PubMed Link: 30078197
Variant Present in the following documents:
  • Main text
  • MGG3-6-689.pdf
View BVdb publication page



High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development.

Cell Reports
Wilderman, Andrea A; VanOudenhove, Jennifer J; Kron, Jeffrey J; Noonan, James P JP; Cotney, Justin J
Publication Date: 2018-05-01

Variant appearance in text: rs560426
PubMed Link: 29719267
Variant Present in the following documents:
  • NIHMS965685-supplement-1.pdf
  • NIHMS965685-supplement-6.pdf
View BVdb publication page



Prevalence of non-syndromic orofacial clefts: based on 15,094,978 Chinese perinatal infants.

Oncotarget
Fan, Dazhi D; Wu, Shuzhen S; Liu, Li L; Xia, Qing Q; Tian, Guo G; Wang, Wen W; Ye, Shaoxin S; Wang, Lijuan L; Rao, Jiaming J; Yang, Xiao X; Yu, Zhen Z; Xin, Lihong L; Li, Song S; Duan, Zhenghua Z; Zhang, Tianchen T; Wu, Song S; Guo, Xiaoling X; Liu, Zhengping Z
Publication Date: 2018-03-02

Variant appearance in text: rs560426
PubMed Link: 29568410
Variant Present in the following documents:
  • Main text
  • oncotarget-09-13981.pdf
View BVdb publication page



Simulating autosomal genotypes with realistic linkage disequilibrium and a spiked-in genetic effect.

Bmc Bioinformatics
Shi, M M; Umbach, D M DM; Wise, A S AS; Weinberg, C R CR
Publication Date: 2018-01-02

Variant appearance in text: rs560426
PubMed Link: 29291710
Variant Present in the following documents:
  • Main text
  • 12859_2017_Article_2004.pdf
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A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts.

Journal Of Dental Research
Moreno Uribe, L M LM; Fomina, T T; Munger, R G RG; Romitti, P A PA; Jenkins, M M MM; Gjessing, H K HK; Gjerdevik, M M; Christensen, K K; Wilcox, A J AJ; Murray, J C JC; Lie, R T RT; Wehby, G L GL
Publication Date: 2017-10

Variant appearance in text: rs560426
PubMed Link: 28662356
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.

Nature Communications
Liu, Huan H; Leslie, Elizabeth J EJ; Carlson, Jenna C JC; Beaty, Terri H TH; Marazita, Mary L ML; Lidral, Andrew C AC; Cornell, Robert A RA
Publication Date: 2017-03-13

Variant appearance in text: rs560426
PubMed Link: 28287101
Variant Present in the following documents:
  • Main text
View BVdb publication page



New insights from GWAS for the cleft palate among han Chinese population.

Medicina Oral, Patologia Oral Y Cirugia Bucal
Duan, S-J SJ; Huang, N N; Zhang, B-H BH; Shi, J-Y JY; He, S S; Ma, J J; Yu, Q-Q QQ; Shi, B B; Jia, Z-L ZL
Publication Date: 2017-03-01

Variant appearance in text: rs560426
PubMed Link: 28160584
Variant Present in the following documents:
  • medoral-22-e219.pdf
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Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.

Human Molecular Genetics
Ludwig, Kerstin U KU; Böhmer, Anne C AC; Bowes, John J; Nikolic, Miloš M; Ishorst, Nina N; Wyatt, Niki N; Hammond, Nigel L NL; Gölz, Lina L; Thieme, Frederic F; Barth, Sandra S; Schuenke, Hannah H; Klamt, Johanna J; Spielmann, Malte M; Aldhorae, Khalid K; Rojas-Martinez, Augusto A; Nöthen, Markus M MM; Rada-Iglesias, Alvaro A; Dixon, Michael J MJ; Knapp, Michael M; Mangold, Elisabeth E
Publication Date: 2017-02-15

Variant appearance in text: rs560426
PubMed Link: 28087736
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data.

Genomics Data
Dunkhase, Eva E; Ludwig, Kerstin U KU; Knapp, Michael M; Skibola, Christine F CF; Figueiredo, Jane C JC; Hosking, Fay Julie FJ; Ellinghaus, Eva E; Landi, Maria Teresa MT; Ma, Hongxia H; Nakagawa, Hidewaki H; Kim, Jong-Won JW; Han, Jiali J; Yang, Ping P; Böhmer, Anne C AC; Mattheisen, Manuel M; Nöthen, Markus M MM; Mangold, Elisabeth E
Publication Date: 2016-12

Variant appearance in text: rs560426
PubMed Link: 27630819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta-analysis.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Wattanawong, Kachin K; Rattanasiri, Sasivimol S; McEvoy, Mark M; Attia, John J; Thakkinstian, Ammarin A
Publication Date: 2016-09

Variant appearance in text: rs560426
PubMed Link: 27511269
Variant Present in the following documents:
  • BDRA-106-773.pdf
View BVdb publication page



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

Journal Of Dental Research
Gowans, L J J LJ; Adeyemo, W L WL; Eshete, M M; Mossey, P A PA; Busch, T T; Aregbesola, B B; Donkor, P P; Arthur, F K N FK; Bello, S A SA; Martinez, A A; Li, M M; Augustine-Akpan, E A EA; Deressa, W W; Twumasi, P P; Olutayo, J J; Deribew, M M; Agbenorku, P P; Oti, A A AA; Braimah, R R; Plange-Rhule, G G; Gesses, M M; Obiri-Yeboah, S S; Oseni, G O GO; Olaitan, P B PB; Abdur-Rahman, L L; Abate, F F; Hailu, T T; Gravem, P P; Ogunlewe, M O MO; Buxó, C J CJ; Marazita, M L ML; Adeyemo, A A AA; Murray, J C JC; Butali, A A
Publication Date: 2016-10

Variant appearance in text: rs560426
PubMed Link: 27369588
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk prediction models for oral clefts allowing for phenotypic heterogeneity.

Frontiers In Genetics
Wen, Yalu Y; Lu, Qing Q
Publication Date: 2015

Variant appearance in text: rs560426
PubMed Link: 26322076
Variant Present in the following documents:
  • Main text
  • fgene-06-00264.pdf
View BVdb publication page



Developments in our understanding of the genetic basis of birth defects.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Webber, Daniel M DM; MacLeod, Stewart L SL; Bamshad, Michael J MJ; Shaw, Gary M GM; Finnell, Richard H RH; Shete, Sanjay S SS; Witte, John S JS; Erickson, Stephen W SW; Murphy, Linda D LD; Hobbs, Charlotte C
Publication Date: 2015-08

Variant appearance in text: rs560426
PubMed Link: 26033863
Variant Present in the following documents:
  • Main text
View BVdb publication page



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.

American Journal Of Human Genetics
Leslie, Elizabeth J EJ; Taub, Margaret A MA; Liu, Huan H; Steinberg, Karyn Meltz KM; Koboldt, Daniel C DC; Zhang, Qunyuan Q; Carlson, Jenna C JC; Hetmanski, Jacqueline B JB; Wang, Hang H; Larson, David E DE; Fulton, Robert S RS; Kousa, Youssef A YA; Fakhouri, Walid D WD; Naji, Ali A; Ruczinski, Ingo I; Begum, Ferdouse F; Parker, Margaret M MM; Busch, Tamara T; Standley, Jennifer J; Rigdon, Jennifer J; Hecht, Jacqueline T JT; Scott, Alan F AF; Wehby, George L GL; Christensen, Kaare K; Czeizel, Andrew E AE; Deleyiannis, Frederic W-B FW; Schutte, Brian C BC; Wilson, Richard K RK; Cornell, Robert A RA; Lidral, Andrew C AC; Weinstock, George M GM; Beaty, Terri H TH; Marazita, Mary L ML; Murray, Jeffrey C JC
Publication Date: 2015-03-05

Variant appearance in text: rs560426
PubMed Link: 25704602
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and genomics in Brazil: a promising future.

Molecular Genetics & Genomic Medicine
Passos-Bueno, Maria Rita MR; Bertola, Debora D; Horovitz, Dafne Dain Gandelman DD; de Faria Ferraz, Victor Evangelista VE; Brito, Luciano Abreu LA
Publication Date: 2014-07

Variant appearance in text: rs560426
PubMed Link: 25077170
Variant Present in the following documents:
  • mgg30002-0280.pdf
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Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate.

Journal Of Anatomy
Miller, Steven F SF; Weinberg, Seth M SM; Nidey, Nichole L NL; Defay, David K DK; Marazita, Mary L ML; Wehby, George L GL; Moreno Uribe, Lina M LM
Publication Date: 2014-06

Variant appearance in text: rs560426
PubMed Link: 24738728
Variant Present in the following documents:
  • Main text
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Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.

American Journal Of Medical Genetics. Part A
Leslie, Elizabeth J EJ; Mancuso, Jennifer L JL; Schutte, Brian C BC; Cooper, Margaret E ME; Durda, Kate M KM; L'Heureux, Jamie J; Zucchero, Theresa M TM; Marazita, Mary L ML; Murray, Jeffrey C JC
Publication Date: 2013-10

Variant appearance in text: rs560426
PubMed Link: 23949966
Variant Present in the following documents:
  • Main text
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Further evidence of association of the ABCA4 gene with cleft lip/palate.

European Journal Of Oral Sciences
Fontoura, Clarissa C; Silva, Renato M RM; Granjeiro, Jose M JM; Letra, Ariadne A
Publication Date: 2012-12

Variant appearance in text: rs560426
PubMed Link: 23167473
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study identifies five loci influencing facial morphology in Europeans.

Plos Genetics
Liu, Fan F; van der Lijn, Fedde F; Schurmann, Claudia C; Zhu, Gu G; Chakravarty, M Mallar MM; Hysi, Pirro G PG; Wollstein, Andreas A; Lao, Oscar O; de Bruijne, Marleen M; Ikram, M Arfan MA; van der Lugt, Aad A; Rivadeneira, Fernando F; Uitterlinden, André G AG; Hofman, Albert A; Niessen, Wiro J WJ; Homuth, Georg G; de Zubicaray, Greig G; McMahon, Katie L KL; Thompson, Paul M PM; Daboul, Amro A; Puls, Ralf R; Hegenscheid, Katrin K; Bevan, Liisa L; Pausova, Zdenka Z; Medland, Sarah E SE; Montgomery, Grant W GW; Wright, Margaret J MJ; Wicking, Carol C; Boehringer, Stefan S; Spector, Timothy D TD; Paus, Tomáš T; Martin, Nicholas G NG; Biffar, Reiner R; Kayser, Manfred M
Publication Date: 2012-09

Variant appearance in text: rs560426
PubMed Link: 23028347
Variant Present in the following documents:
  • Main text
  • pgen.1002932.pdf
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Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

Nature Genetics
Ludwig, Kerstin U KU; Mangold, Elisabeth E; Herms, Stefan S; Nowak, Stefanie S; Reutter, Heiko H; Paul, Anna A; Becker, Jessica J; Herberz, Ruth R; AlChawa, Taofik T; Nasser, Entessar E; Böhmer, Anne C AC; Mattheisen, Manuel M; Alblas, Margrieta A MA; Barth, Sandra S; Kluck, Nadine N; Lauster, Carola C; Braumann, Bert B; Reich, Rudolf H RH; Hemprich, Alexander A; Pötzsch, Simone S; Blaumeiser, Bettina B; Daratsianos, Nikolaos N; Kreusch, Thomas T; Murray, Jeffrey C JC; Marazita, Mary L ML; Ruczinski, Ingo I; Scott, Alan F AF; Beaty, Terri H TH; Kramer, Franz-Josef FJ; Wienker, Thomas F TF; Steegers-Theunissen, Regine P RP; Rubini, Michele M; Mossey, Peter A PA; Hoffmann, Per P; Lange, Christoph C; Cichon, Sven S; Propping, Peter P; Knapp, Michael M; Nöthen, Markus M MM
Publication Date: 2012-09

Variant appearance in text: rs560426
PubMed Link: 22863734
Variant Present in the following documents:
  • Main text
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Association of AXIN2 with non-syndromic oral clefts in multiple populations.

Journal Of Dental Research
Letra, A A; Bjork, B B; Cooper, M E ME; Szabo-Rogers, H H; Deleyiannis, F W B FW; Field, L L LL; Czeizel, A E AE; Ma, L L; Garlet, G P GP; Poletta, F A FA; Mereb, J C JC; Lopez-Camelo, J S JS; Castilla, E E EE; Orioli, I M IM; Wendell, S S; Blanton, S H SH; Liu, K K; Hecht, J T JT; Marazita, M L ML; Vieira, A R AR; Silva, R M RM
Publication Date: 2012-05

Variant appearance in text: rs560426
PubMed Link: 22370446
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.

The Cleft Palate-Craniofacial Journal : Official Publication Of The American Cleft Palate-Craniofacial Association
Butali, A A; Mossey, P A PA; Adeyemo, W L WL; Jezewski, P A PA; Onwuamah, C K CK; Ogunlewe, M O MO; Ugboko, V I VI; Adejuyigbe, O O; Adigun, A I AI; Abdur-Rahman, L O LO; Onah, I I II; Audu, R A RA; Idigbe, E O EO; Mansilla, M A MA; Dragan, E A EA; Petrin, A L AL; Bullard, S A SA; Uduezue, A O AO; Akpata, O O; Osaguona, A O AO; Olasoji, H O HO; Ligali, T O TO; Kejeh, B M BM; Iseh, K R KR; Olaitan, P B PB; Adebola, A R AR; Efunkoya, E E; Adesina, O A OA; Oluwatosin, O M OM; Murray, J C JC; ,
Publication Date: 2011-11

Variant appearance in text: rs560426
PubMed Link: 21740177
Variant Present in the following documents:
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Genetic determination of human facial morphology: links between cleft-lips and normal variation.

European Journal Of Human Genetics : Ejhg
Boehringer, Stefan S; van der Lijn, Fedde F; Liu, Fan F; Günther, Manuel M; Sinigerova, Stella S; Nowak, Stefanie S; Ludwig, Kerstin U KU; Herberz, Ruth R; Klein, Stefan S; Hofman, Albert A; Uitterlinden, Andre G AG; Niessen, Wiro J WJ; Breteler, Monique M B MM; van der Lugt, Aad A; Würtz, Rolf P RP; Nöthen, Markus M MM; Horsthemke, Bernhard B; Wieczorek, Dagmar D; Mangold, Elisabeth E; Kayser, Manfred M
Publication Date: 2011-11

Variant appearance in text: rs560426
PubMed Link: 21694738
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Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A
Yuan, Qiuping Q; Blanton, Susan H SH; Hecht, Jacqueline T JT
Publication Date: 2011-06

Variant appearance in text: rs560426
PubMed Link: 21567910
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Genetics of nonsyndromic orofacial clefts.

The Cleft Palate-Craniofacial Journal : Official Publication Of The American Cleft Palate-Craniofacial Association
Rahimov, Fedik F; Jugessur, Astanand A; Murray, Jeffrey C JC
Publication Date: 2012-01

Variant appearance in text: rs560426
PubMed Link: 21545302
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Cleft lip and palate: understanding genetic and environmental influences.

Nature Reviews. Genetics
Dixon, Michael J MJ; Marazita, Mary L ML; Beaty, Terri H TH; Murray, Jeffrey C JC
Publication Date: 2011-03

Variant appearance in text: rs560426
PubMed Link: 21331089
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A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

Nature Genetics
Beaty, Terri H TH; Murray, Jeffrey C JC; Marazita, Mary L ML; Munger, Ronald G RG; Ruczinski, Ingo I; Hetmanski, Jacqueline B JB; Liang, Kung Yee KY; Wu, Tao T; Murray, Tanda T; Fallin, M Daniele MD; Redett, Richard A RA; Raymond, Gerald G; Schwender, Holger H; Jin, Sheng-Chih SC; Cooper, Margaret E ME; Dunnwald, Martine M; Mansilla, Maria A MA; Leslie, Elizabeth E; Bullard, Stephen S; Lidral, Andrew C AC; Moreno, Lina M LM; Menezes, Renato R; Vieira, Alexandre R AR; Petrin, Aline A; Wilcox, Allen J AJ; Lie, Rolv T RT; Jabs, Ethylin W EW; Wu-Chou, Yah Huei YH; Chen, Philip K PK; Wang, Hong H; Ye, Xiaoqian X; Huang, Shangzhi S; Yeow, Vincent V; Chong, Samuel S SS; Jee, Sun Ha SH; Shi, Bing B; Christensen, Kaare K; Melbye, Mads M; Doheny, Kimberly F KF; Pugh, Elizabeth W EW; Ling, Hua H; Castilla, Eduardo E EE; Czeizel, Andrew E AE; Ma, Lian L; Field, L Leigh LL; Brody, Lawrence L; Pangilinan, Faith F; Mills, James L JL; Molloy, Anne M AM; Kirke, Peadar N PN; Scott, John M JM; Scott, James M JM; Arcos-Burgos, Mauricio M; Scott, Alan F AF
Publication Date: 2010-06

Variant appearance in text: rs560426
PubMed Link: 20436469
Variant Present in the following documents:
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