Literature DB >> 17036341

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12.

Steven B Bleyl1, Lorenzo D Botto, John C Carey, Luciana T Young, Michael J Bamshad, Mark F Leppert, Kenneth Ward.   

Abstract

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Year:  2006        PMID： 17036341     DOI： 10.1002/ajmg.a.31471

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  A Novel Mouse Model for Cilia-Associated Cardiovascular Anomalies with a High Penetrance of Total Anomalous Pulmonary Venous Return.

Authors:  Tara A Burns; Raymond N Deepe; John Bullard; Aimee L Phelps; Katelynn A Toomer; Emilye Hiriart; Russell A Norris; Courtney J Haycraft; Andy Wessels
Journal:  Anat Rec (Hoboken)       Date:  2018-10-05       Impact factor: 2.064

2.  Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections.

Authors:  Karl Degenhardt; Manvendra K Singh; Haig Aghajanian; Daniele Massera; Qiaohong Wang; Jun Li; Li Li; Connie Choi; Amanda D Yzaguirre; Lauren J Francey; Emily Gallant; Ian D Krantz; Peter J Gruber; Jonathan A Epstein
Journal:  Nat Med       Date:  2013-05-12       Impact factor: 53.440

3.  Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms.

Authors:  Steven B Bleyl; Yukio Saijoh; Noortje A M Bax; Adriana C Gittenberger-de Groot; Lambertus J Wisse; Susan C Chapman; Jennifer Hunter; Hidetaka Shiratori; Hiroshi Hamada; Shigehito Yamada; Kohei Shiota; Scott E Klewer; Mark F Leppert; Gary C Schoenwolf
Journal:  Hum Mol Genet       Date:  2010-01-13       Impact factor: 6.150

4.  Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).

Authors:  Dustin Nash; Cammon B Arrington; Brett J Kennedy; Mark Yandell; Wilfred Wu; Wenying Zhang; Stephanie Ware; Lynn B Jorde; Peter J Gruber; H Joseph Yost; Neil E Bowles; Steven B Bleyl
Journal:  PLoS One       Date:  2015-06-29       Impact factor: 3.240

5.  Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection.

Authors:  Xin Shi; Liangping Cheng; XianTing Jiao; Bo Chen; Zixiong Li; Yulai Liang; Wei Liu; Jing Wang; Gang Liu; Yuejuan Xu; Jing Sun; Qihua Fu; Yanan Lu; Sun Chen
Journal:  Front Genet       Date:  2018-11-23       Impact factor: 4.599

6.  Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection.

Authors:  Xin Shi; Tao Huang; Jing Wang; Yulai Liang; Chang Gu; Yuejuan Xu; Jing Sun; Yanan Lu; Kun Sun; Sun Chen; Yu Yu
Journal:  EBioMedicine       Date:  2018-11-16       Impact factor: 8.143

Review 7.  Development of the human heart.

Authors:  Marieke F J Buijtendijk; Phil Barnett; Maurice J B van den Hoff
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-02-12       Impact factor: 3.908
  7 in total

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