Holt Oram syndrome: a registry-based study in Europe

被引：0
作者：
Ingeborg Barisic
Ljubica Boban
Ruth Greenlees
Ester Garne
Diana Wellesley
Elisa Calzolari
Marie-Claude Addor
Larraitz Arriola
Jorieke EH Bergman
Paula Braz
Judith LS Budd
Miriam Gatt
Martin Haeusler
Babak Khoshnood
Kari Klungsoyr
Bob McDonnell
Vera Nelen
Anna Pierini
Annette Queisser-Wahrendorf
Judith Rankin
Anke Rissmann
Catherine Rounding
David Tucker
Christine Verellen-Dumoulin
Helen Dolk
机构：
[1] University of Zagreb,Zagreb Children’s Hospital, Medical School
[2] University of Ulster,EUROCAT Central Registry
[3] Pediatric Department,Division of Medical Genetics
[4] Hospital Lillebaelt,Registro Anomalias Congenitas CAPV. Dirección de Salud Pública. Departamento de Sanidad. Instituto BIO
[5] Wessex Clinical Genetics Service,Donostia
[6] Princess Anne Hospital,Department of Genetics
[7] Registro IMER,Departamento de Epidemiologia
[8] Azienda Ospedaliero-Universitaria di Ferrara,Department of Health Sciences
[9] CHUV,Styrian Malformation Registry
[10] Basque Government CIBER Epidemiología y Salud Pública - CIBERESP,Paris Registry of Congenital Malformations
[11] University of Groningen,Medical Birth Registry of Norway
[12] University Medical Center Groningen,Health Information Unit
[13] Instituto Nacional de Saude Doutor Ricardo Jorge,Malformation Monitoring Centre Saxony
[14] University of Leicester,Anhalt
[15] Malta Congenital Anomalies Registry,National Perinatal Epidemiology Unit
[16] Directorate of Health Information and Research,undefined
[17] Medical University of Graz,undefined
[18] INSERM U953,undefined
[19] University of Bergen,undefined
[20] Health Service Executive,undefined
[21] Dr Stevens Hospital,undefined
[22] Provinciaal Instituut voor Hygiene,undefined
[23] CNR Institute of Clinical Physiology,undefined
[24] Universitätskinderklinik Mainz,undefined
[25] Institute of Health & Society,undefined
[26] Medical Faculty Otto-von-Guericke University,undefined
[27] University of Oxford,undefined
[28] Congenital Anomaly Register & Info Service Public Health Level 3 West Wing,undefined
[29] Singleton Hospital,undefined
[30] Sketty Lane,undefined
[31] Institut de Pathologie et de Génétique,undefined
来源：
Orphanet Journal of Rare Diseases | / 9卷
关键词：
Holt Oram syndrome; Congenital anomalies; Prenatal diagnosis; Epidemiology; Europe;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 307 条
[1]  
Holt M(1960)Familial heart disease with skeletal malformations Br Heart J 22 236-242
[2]  
Oram S(1997)Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome Nat Genet 15 30-35
[3]  
Basson CT(1999)Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations Proc Natl Acad Sci U S A 96 2919-2924
[4]  
Bachinsky DR(2005)TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome Pediatr Res 58 981-986
[5]  
Lin RC(2008)Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein BMC Med Genet 9 88-310
[6]  
Levi T(2011)A Boy with Holt-Oram syndrome caused by novel mutation c.1304delT in the TBX5 gene Mol Syndromol 1 307-8785
[7]  
Elkins JA(2003)Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome J Med Genet 40 e29-1442
[8]  
Soults J(2003)Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome J Biol Chem 278 8780-236
[9]  
Grayzel D(2008)A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation Circ Res 102 1433-139
[10]  
Kroumpouzou E(2010)Novel mutations in the TBX5 gene in patients with Holt-Oram syndrome Genet Mol Biol 33 232-869
12345678910