Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy

(2013) Anne-Karin Arndt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

(2013) Bum Jun Kim et al.   PLoS One

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

(2012) Alexander J Doyle et al.   NATURE GENETICS

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

(2011) A. Nicoulaz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MASP2 haplotypes are associated with high risk of cardiomyopathy in chronic Chagas disease

(2011) Angelica B.W. Boldt et al.   CLINICAL IMMUNOLOGY

Targeting of mannan-binding lectin-associated serine protease-2 confers protection from myocardial and gastrointestinal ischemia/reperfusion injury

(2011) W. J. Schwaeble et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation

(2011) T. P. Cappola et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

(2010) Marzena Gajecka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

OEIS complex associated with chromosome 1p36 deletion: A case report and review

(2010) Ayman W. El-Hattab et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation

(2010) Mark Luedde et al.   CARDIOVASCULAR RESEARCH

Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy

(2009) Anne-Claire Bursztejn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

(2009) Margaret J. Wat et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and Functional Characterization of TNNT2 Mutations Identified in Patients With Dilated Cardiomyopathy

(2009) Ray E. Hershberger et al.   Circulation-Cardiovascular Genetics

Prdm16 is required for normal palatogenesis in mice

(2009) Bryan C. Bjork et al.   HUMAN MOLECULAR GENETICS

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36

(2008) Shoji Saito et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature

(2008) Philippe M. Campeau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LUZP deficiency affects neural tube closure during brain development

(2008) Chia-Yi Hsu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

(2008) Sabine Klaassen et al.   CIRCULATION

Cardiac malformations and myocardial abnormalities inpodoplanin knockout mouse embryos: Correlation with abnormal epicardial development

(2008) Edris A.F. Mahtab et al.   DEVELOPMENTAL DYNAMICS

Podoplanindeficient mice show a rhoa-related hypoplasia of the sinus venosus myocardium including the sinoatrial node

(2008) Edris A.F. Mahtab et al.   DEVELOPMENTAL DYNAMICS

Left-ventricular non-compaction (LVNC): A clinical feature more often observed in terminal deletion 1p36 than previously expected

(2008) Kirsten Cremer et al.   European Journal of Medical Genetics

Pulmonary Vein, Dorsal Atrial Wall and Atrial Septum Abnormalities in Podoplanin Knockout Mice With Disturbed Posterior Heart Field Contribution

(2008) Yvonne L Douglas et al.   PEDIATRIC RESEARCH

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

(2008) A. Battaglia et al.   PEDIATRICS

Murine Dishevelled 3 Functions in Redundant Pathways with Dishevelled 1 and 2 in Normal Cardiac Outflow Tract, Cochlea, and Neural Tube Development

(2008) S. Leah Etheridge et al.   PLoS Genetics