Literature DB >> 21319277

Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia.

Astanand Jugessur1, Min Shi, Håkon Kristian Gjessing, Rolv Terje Lie, Allen James Wilcox, Clarice Ring Weinberg, Kaare Christensen, Abee Lowman Boyles, Sandra Daack-Hirsch, Truc Trung Nguyen, Lene Christiansen, Andrew Carl Lidral, Jeffrey Clark Murray.   

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Year:  2010        PMID： 21319277      PMCID： PMC3407039          DOI： 10.1002/bdra.20747

Source DB:  PubMed          Journal:  Birth Defects Res A Clin Mol Teratol        ISSN： 1542-0752


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  45 in total

1.  Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.

Authors:  K Suzuki; D Hu; T Bustos; J Zlotogora; A Richieri-Costa; J A Helms; R A Spritz
Journal:  Nat Genet       Date:  2000-08       Impact factor: 38.330

2.  Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.

Authors:  R Richardson; D Donnai; F Meire; M J Dixon
Journal:  J Med Genet       Date:  2004-01       Impact factor: 6.318

3.  Changing lifestyles and oral clefts occurrence in Denmark.

Authors:  Camilla Bille; Lisbeth B Knudsen; Kaare Christensen
Journal:  Cleft Palate Craniofac J       Date:  2005-05

4.  Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Authors:  William A Paznekas; Simeon A Boyadjiev; Robert E Shapiro; Otto Daniels; Bernd Wollnik; Catherine E Keegan; Jeffrey W Innis; Mary Beth Dinulos; Cathy Christian; Mark C Hannibal; Ethylin Wang Jabs
Journal:  Am J Hum Genet       Date:  2002-11-27       Impact factor: 11.025

5.  Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium for Oral Clefts Genetics.

Authors:  Laura E Mitchell; Terri H Beaty; Andrew C Lidral; Ronald G Munger; Jeffrey C Murray; Howard M Saal; Diego F Wyszynski
Journal:  Cleft Palate Craniofac J       Date:  2002-01

6.  Vinculin controls PTEN protein level by maintaining the interaction of the adherens junction protein beta-catenin with the scaffolding protein MAGI-2.

Authors:  M Cecilia Subauste; Perihan Nalbant; Eileen D Adamson; Klaus M Hahn
Journal:  J Biol Chem       Date:  2004-12-05       Impact factor: 5.157

Review 7.  Current concepts in the embryology and genetics of cleft lip and cleft palate.

Authors:  Mary L Marazita; Mark P Mooney
Journal:  Clin Plast Surg       Date:  2004-04       Impact factor: 2.017

8.  Transcription factor AP-2 essential for cranial closure and craniofacial development.

Authors:  H Schorle; P Meier; M Buchert; R Jaenisch; P J Mitchell
Journal:  Nature       Date:  1996-05-16       Impact factor: 49.962

9.  Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Authors:  Shinji Kondo; Brian C Schutte; Rebecca J Richardson; Bryan C Bjork; Alexandra S Knight; Yoriko Watanabe; Emma Howard; Renata L L Ferreira de Lima; Sandra Daack-Hirsch; Achim Sander; Donna M McDonald-McGinn; Elaine H Zackai; Edward J Lammer; Arthur S Aylsworth; Holly H Ardinger; Andrew C Lidral; Barbara R Pober; Lina Moreno; Mauricio Arcos-Burgos; Consuelo Valencia; Claude Houdayer; Michel Bahuau; Danilo Moretti-Ferreira; Antonio Richieri-Costa; Michael J Dixon; Jeffrey C Murray
Journal:  Nat Genet       Date:  2002-09-03       Impact factor: 38.330

10.  A powerful approach to sub-phenotype analysis in population-based genetic association studies.

Authors:  Andrew P Morris; Cecilia M Lindgren; Eleftheria Zeggini; Nicholas J Timpson; Timothy M Frayling; Andrew T Hattersley; Mark I McCarthy
Journal:  Genet Epidemiol       Date:  2010-05       Impact factor: 2.135
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  14 in total

Review 1.  Genetics of nonsyndromic orofacial clefts.

Authors:  Fedik Rahimov; Astanand Jugessur; Jeffrey C Murray
Journal:  Cleft Palate Craniofac J       Date:  2011-05-05

2.  Cleft palate only: current concepts.

Authors:  L Tettamanti; A Avantaggiato; M Nardone; J Silvestre-Rangil; A Tagliabue
Journal:  Oral Implantol (Rome)       Date:  2017-04-10

Review 3.  Microtia: epidemiology and genetics.

Authors:  Daniela V Luquetti; Carrie L Heike; Anne V Hing; Michael L Cunningham; Timothy C Cox
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

4.  Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.

Authors:  Min Shi; Jeffrey C Murray; Mary L Marazita; Ronald G Munger; Ingo Ruczinski; Jacqueline B Hetmanski; Tao Wu; Tanda Murray; Richard J Redett; Allen J Wilcox; Rolv T Lie; Ethylin Wang Jabs; Yah Huei Wu-Chou; Philip K Chen; Hong Wang; Xiaoqian Ye; Vincent Yeow; Samuel S Chong; Bing Shi; Kaare Christensen; Alan F Scott; Poorav Patel; Felicia Cheah; Terri H Beaty
Journal:  Am J Med Genet A       Date:  2012-03-14       Impact factor: 2.802

5.  Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Authors:  Sébastien Mbuyi-Musanzayi; Aimé Lumaka; Toni Lubala Kasole; Erick Kasamba Ilunga; Bienvenu Yogolelo Asani; Prosper Lukusa Tshilobo; Prosper Kalenga Muenze; Hervé Reychler; François Tshilombo Katombe; Koenraad Devriendt
Journal:  J Pediatr Genet       Date:  2017-03-07

6.  Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.

Authors:  Justyna Dąbrowska; Barbara Biedziak; Anna Szponar-Żurowska; Margareta Budner; Paweł P Jagodziński; Rafał Płoski; Adrianna Mostowska
Journal:  Mol Genet Genomics       Date:  2022-07-01       Impact factor: 2.980

7.  Investigation of connexin 43 uncoupling and prolongation of the cardiac QRS complex in preclinical and marketed drugs.

Authors:  M P Burnham; P M Sharpe; C Garner; R Hughes; C E Pollard; J Bowes
Journal:  Br J Pharmacol       Date:  2014-08-13       Impact factor: 8.739

8.  Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia.

Authors:  Daniela V Luquetti; Babette S Saltzman; Kathleen C Sie; Craig B Birgfeld; Brian G Leroux; Kelly N Evans; James M Smartt; David D Tieu; Daniel J Dudley; Carrie L Heike
Journal:  Am J Med Genet A       Date:  2013-04-24       Impact factor: 2.802

9.  Utility and limitations of animal models for the functional validation of human sequence variants.

Authors:  Timothy C Cox
Journal:  Mol Genet Genomic Med       Date:  2015-08-03       Impact factor: 2.183

10.  Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate.

Authors:  Sibele Nascimento de Aquino; Ana Camila Messetti; Elizabete Bagordakis; Hercílio Martelli-Júnior; Mario Sergio Oliveira Swerts; Edgard Graner; Ricardo D Coletta
Journal:  BMC Med Genet       Date:  2013-05-16       Impact factor: 2.103
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