|1.||Bruneau, Benoit G: 4 articles (04/2008 - 06/2003)|
|2.||McDermott, Deborah A: 3 articles (09/2008 - 07/2004)|
|3.||Basson, Craig T: 3 articles (09/2008 - 07/2004)|
|4.||Pitto, Letizia: 2 articles (06/2014 - 01/2012)|
|5.||Fan, Chun: 2 articles (09/2009 - 03/2003)|
|6.||Peterlin, B: 2 articles (10/2008 - 08/2005)|
|7.||Volk, M: 2 articles (10/2008 - 08/2005)|
|8.||Sinkovec, M: 2 articles (10/2008 - 08/2005)|
|9.||Zhu, Yonghong: 2 articles (04/2008 - 09/2006)|
|10.||Henkelman, R Mark: 2 articles (04/2008 - 09/2006)|
|1.||Congenital Heart Defects (Congenital Heart Defect)
06/01/2014 - "Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by upper limb defects and congenital heart defects (CHD), which are often simple septal and conduction defects, less frequently complex CHDs. "
01/01/2014 - "Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. "
01/01/2012 - "Tbx5 function in heart development appears to be exquisitely sensitive to gene dosage, since both haploinsufficiency and gene duplication generate the cardiac abnormalities associated with Holt-Oram syndrome (HOS), a highly penetrant autosomal dominant disease characterized by congenital heart defects of varying severity and upper limb malformation. "
01/01/2011 - "The tbx5 mutation in human causes Holt-Oram syndrome, an autosomal dominant condition characterized by a familial history of congenital heart defects and preaxial radial upper-limb defects. "
01/01/2011 - "In medical literature, there are many syndromes described about the association between skeletal alteration of the hands and heart abnormalities (heart-hand syndrome). "
|2.||Atrial Heart Septal Defects (Atrial Septal Defect)
01/01/2015 - "A detailed systemic evaluation in the child revealed atrial septal defect and a hypoplastic right thumb leading to a diagnosis of coexisting Holt-Oram syndrome. "
05/01/2008 - "A patient with a sporadic heart-hand syndrome, which includes thumb hypoplasia, septum primum atrial septal defect, and cleft mitral valve is described. "
10/01/2003 - "Mutations in TBX5 have already been shown to cause similar atrial septal defects in Holt-Oram syndrome."
02/01/1975 - "The association of hypoplastic thumb and atrial septal defect, (Holt-Oram syndrome) with a prolapsed mitrial valve is described. "
01/01/2015 - "We report a Japanese family with 2 affected individuals with the typical Holt-Oram syndrome phenotype, namely bilateral asymmetrical radial ray deformities and an atrial septal defect. "
|3.||Heart Diseases (Heart Disease)
03/01/2012 - "Holt-Oram syndrome is an autosomal dominant condition associated with skeletal malformations of the upper limbs, and congenital heart disease. "
05/01/2004 - "TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed."
07/01/1997 - "The clinical manifestation of the Holt-Oram-syndrome (HOS) shows congenital heart-disease and anomalies of the upper limb. "
10/16/1996 - "Variation in severity of cardiac disease in Holt-Oram syndrome."
10/01/1991 - "This congenital heart disease was rarely reported in association with Holt-Oram syndrome."
|4.||Congenital Abnormalities (Deformity)
03/13/2015 - "TBX5 is the gene mutated in Holt-Oram syndrome, an autosomal dominant disorder with complex heart and limb deformities. "
01/01/2014 - "Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome."
09/01/2007 - "Holt-Oram syndrome (MIM #142900) is an autosomal-dominant disorder characterized by radial ray deformities of the upper limb associated with cardiac septation and/or conduction defects. "
12/13/2005 - "Various mutations in the TBX5 gene have been identified in patients with Holt-Oram syndrome, which is characterized by congenital defects in the heart and upper extremities. "
07/01/2004 - "Mutations in the human TBX5 gene cause Holt-Oram syndrome (HOS), a disorder characterized by heart and upper limb deformities. "
|5.||Ventricular Heart Septal Defects (Ventricular Septal Defect)
08/01/2015 - "Mutations of TBX5 cause Holt-Oram syndrome (HOS) in humans, a disease characterized by atrial or occasionally ventricular septal defects in the heart and skeletal abnormalities of the upper extremity. "
07/15/2012 - "We re-sequenced these enhancer elements in a cohort of non-syndromic patients with isolated atrial and/or ventricular septal defects, the predominant cardiac defects of the Holt-Oram syndrome, and identified a patient with a homozygous mutation in an enhancer ∼90 kb downstream of TBX5. "
08/01/2008 - "The cardiac malformations most commonly associated with Holt-Oram syndrome are atrial or ventricular septal defects. "
05/15/1994 - "Pathogenetic implications of muscular ventricular septal defect in Holt-Oram syndrome."
03/01/2012 - "We report a rare cardiac defect patent ductus arteriosus (PDA) and ventricular septal defect (VSD) in a case of Holt-Oram syndrome."
|1.||Transcription Factors (Transcription Factor)
|6.||Valproic Acid (Valproate, Semisodium)
|8.||Genetic Markers (Genetic Marker)
|9.||Adrenocorticotropic Hormone (ACTH)
|10.||Nager type Acrofacial dysostosis