Title: <i>CRELD1</i> mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome
Abstract: American Journal of Medical Genetics Part AVolume 140A, Issue 22 p. 2501-2505 Research Letter CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome† Cheryl L. Maslen, Corresponding Author Cheryl L. Maslen [email protected] Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, Oregon Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon Heart Research Center, Oregon Health & Science University, Portland, OregonOregon Health & Science University, L-465, 3181 SW Sam Jackson Park Rd., Portland, OR 97239.Search for more papers by this authorDarcie Babcock, Darcie Babcock Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, OregonSearch for more papers by this authorSusan W. Robinson, Susan W. Robinson Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, OregonSearch for more papers by this authorLora J. H. Bean, Lora J. H. Bean Department of Human Genetics, Emory University, Atlanta, GeorgiaSearch for more papers by this authorKenneth J. Dooley, Kenneth J. Dooley Department of Pediatrics, Sibley Heart Center, Cardiology, Children's Healthcare of Atlanta, Emory University, Atlanta, GeorgiaSearch for more papers by this authorVirginia L. Willour, Virginia L. Willour Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MarylandSearch for more papers by this authorStephanie L. Sherman, Stephanie L. Sherman Department of Human Genetics, Emory University, Atlanta, GeorgiaSearch for more papers by this author Cheryl L. Maslen, Corresponding Author Cheryl L. Maslen [email protected] Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, Oregon Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon Heart Research Center, Oregon Health & Science University, Portland, OregonOregon Health & Science University, L-465, 3181 SW Sam Jackson Park Rd., Portland, OR 97239.Search for more papers by this authorDarcie Babcock, Darcie Babcock Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, OregonSearch for more papers by this authorSusan W. Robinson, Susan W. Robinson Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, OregonSearch for more papers by this authorLora J. H. Bean, Lora J. H. Bean Department of Human Genetics, Emory University, Atlanta, GeorgiaSearch for more papers by this authorKenneth J. Dooley, Kenneth J. Dooley Department of Pediatrics, Sibley Heart Center, Cardiology, Children's Healthcare of Atlanta, Emory University, Atlanta, GeorgiaSearch for more papers by this authorVirginia L. Willour, Virginia L. Willour Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MarylandSearch for more papers by this authorStephanie L. Sherman, Stephanie L. Sherman Department of Human Genetics, Emory University, Atlanta, GeorgiaSearch for more papers by this author First published: 26 October 2006 https://doi.org/10.1002/ajmg.a.31494Citations: 65 † How to cite this article: Maslen CL, Babcock D, Robinson SW, Bean LJH, Dooley KJ, Willour VL, Sherman SL. 2006. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet Part A 140A:2501–2505. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Babcock D, Gasner C, Francke U, Maslen C. 1998. A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. Hum Genet 103: 22–28. Barlow GM, Chen XN, Shi ZY, Lyons GE, Kurnit DM, Celle L, Spinner NB, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans MJ, Mjaatvedt CH, Korenberg JR. 2001. Down syndrome congenital heart disease: A narrowed region and a candidate gene. 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Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). Clin Genet 67: 526–528. Citing Literature Volume140A, Issue2215 November 2006Pages 2501-2505 ReferencesRelatedInformation
Publication Year: 2006
Publication Date: 2006-10-11
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 87
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