Literature DB >> 35190366

A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.

Hande Kaymakçalan1, A Gülhan Ercan-Şençiçek2, Ayşe Nurcan Cebeci3, Weilai Dong4, Ali Seyfi Yalım Yalçın5.   

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Year:  2022        PMID： 35190366      PMCID： PMC8878915          DOI： 10.5152/AnatolJCardiol.2021.554

Source DB:  PubMed          Journal:  Anatol J Cardiol        ISSN： 2149-2263            Impact factor:   1.596


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  9 in total

Review 1.  Genetic Origins of Tetralogy of Fallot.

Authors:  Ari Morgenthau; William H Frishman
Journal:  Cardiol Rev       Date:  2018 Mar/Apr       Impact factor: 2.644

2.  Renpenning syndrome comes into focus.

Authors:  Roger E Stevenson; C W Bennett; F Abidi; T Kleefstra; M Porteous; R J Simensen; H A Lubs; B C J Hamel; C E Schwartz
Journal:  Am J Med Genet A       Date:  2005-05-01       Impact factor: 2.802

Review 3.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

Review 4.  Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

Authors:  Gillian M Blue; Edwin P Kirk; Eleni Giannoulatou; Gary F Sholler; Sally L Dunwoodie; Richard P Harvey; David S Winlaw
Journal:  J Am Coll Cardiol       Date:  2017-02-21       Impact factor: 24.094

5.  The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

Authors:  D Germanaud; M Rossi; G Bussy; D Gérard; L Hertz-Pannier; P Blanchet; H Dollfus; F Giuliano; V Bennouna-Greene; P Sarda; S Sigaudy; A Curie; M C Vincent; R Touraine; V des Portes
Journal:  Clin Genet       Date:  2010-10-18       Impact factor: 4.438

Review 6.  Tetralogy of Fallot.

Authors:  Christian Apitz; Gary D Webb; Andrew N Redington
Journal:  Lancet       Date:  2009-08-14       Impact factor: 79.321

7.  The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.

Authors:  Xian Liu; Lin-Xia Dou; Junhai Han; Zi Chao Zhang
Journal:  J Biol Chem       Date:  2020-02-10       Impact factor: 5.157

8.  Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis.

Authors:  Ruan Peng; Ju Zheng; Hong-Ning Xie; Miao He; Mei-Fang Lin
Journal:  Cardiovasc Ultrasound       Date:  2019-05-06       Impact factor: 2.062

9.  Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies.

Authors:  Yingjuan Liu; Sen Chen; Liesl Zühlke; Graeme C Black; Mun-Kit Choy; Ningxiu Li; Bernard D Keavney
Journal:  Int J Epidemiol       Date:  2019-04-01       Impact factor: 7.196
  9 in total

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