X-linked situs abnormalities result from mutations in ZIC3

Marinella Gebbia, Giovanni Battista Ferrero, Giuseppe Pilia, +9

Nature Genetics

Somatic VariantGenetic DisorderMedicineGeneticsX-linked Situs Abnormalities +2

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

Richard N. Bamford, Erich Roessler, Rebecca D. Burdine, +10

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsEgf-cfc Gene Cfc1 +4

Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects

Stephanie M. Ware, Jianlan Peng, Lirong Zhu, +5

The American Journal of Human Genetics

Zic3 MutationsHeart FailureDevelopmental BiologyGeneticsCongenital Heart Defect +5

A Population-Based Study of Cardiac Malformations and Outcomes Associated With Dextrocardia

C. Monique Bohun, James E. Potts, Brett Casey, +1

The American Journal of Cardiology

CardiomyopathyPopulation-based StudyOutcomes AssociatedCardiovascular DiseaseStructural Heart Disease +10

Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development

Kenjiro Kosaki, Rika Kosaki, Maria Teresa Bassi, +4

The American Journal of Human Genetics

Murine Genes ImplicatedDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics +7

Left-right axis malformations associated with mutations inACVR2B, the gene for human activin receptor type IIB

Rika Kosaki, Marinella Gebbia, Kenjiro Kosaki, +4

American Journal of Medical Genetics

A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671

MA Luther, Ralf Schoepfer, Paul J. Whiting, +5

Journal of Neuroscience

NeurotransmitterImmunologyCellular NeurobiologySynaptic SignalingCellular Physiology +16

A complex syndrome of left-right axis, central nervous system and axial skeleton defects in<i>Zic3</i>mutant mice

Smita M. Purandare, Stephanie M. Ware, Kin Ming Kwan, +7

Development

Null MiceNeurological DisorderGeneticsX-linked HeterotaxyEmbryology +19

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

Bhagyalaxmi Mohapatra, Brett Casey, Hua Li, +10

Human Molecular Genetics

Complete Transposition of the Great Arteries

M. Cristina Digilio, Brett Casey, Alessandra Toscano, +7

Circulation