A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

scientific article

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/EJHG.2011.33
P932PMC publication ID3137501
P698PubMed publication ID21386876
P5875ResearchGate publication ID50348995

P50authorMarieke J H BaarsQ123039013
Barbara MulderQ62975186
Arthur WildeQ88314138
P2093author name stringJan Lam
Marcel M A M Mannens
Antoon F M Moorman
Klaartje van Engelen
Inge B Mathijssen
Alex V Postma
Ronald H Lekanne dit Deprez
Judith B A van de Meerakker
P2860cites workGATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5Q24307366
Mutations in NOTCH1 cause aortic valve diseaseQ24307999
Congenital heart disease caused by mutations in the transcription factor NKX2-5Q24311343
Transcription factor Tbx3 is required for the specification of the atrioventricular conduction systemQ28512690
Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3Q28594589
The incidence of congenital heart diseaseQ29614195
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statisticsQ29615769
The diverse cardiac morphology seen in hearts with isomerism of the atrial appendages with reference to the disposition of the specialised conduction systemQ33258070
Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assaysQ33368488
Atrial arrhythmias in congenital heart diseaseQ34950137
Human laterality disordersQ36388233
Arrhythmias in adult patients with congenital heart diseaseQ36721571
Morphology of the sinus node in human and mouse hearts with isomerism of the atrial appendagesQ36824592
Brain- and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomasQ42500445
Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.Q54623680
Study of the specific heat of a CeCoAl4 single crystal in high magnetic fieldsQ56955908
Characteristics and natural history of abnormal atrial rhythms in left isomerismQ68696168
Cardiac rhythm in atrial isomerismQ69008813
Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mappingQ72702989
Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defectsQ74607737
Isolated levocardia associated with absence of inferior vena cava, lobulated spleen and sick sinus syndrome. A case reportQ74829975
easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analysesQ80526401
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillationQ81200048
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6pQ81446307
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectcongenital disorderQ727096
P304page(s)820-826
P577publication date2011-03-09
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleA novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q
P478volume19

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cites work (P2860)
Q92719362A novel conserved enhancer at zebrafish zic3 and zic6 loci drives neural expression
Q37274221Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

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