Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry
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S. Lemaire | D. Milewicz | S. Body | H. Michelena | C. Maslen | A. Lin | G. Limongelli | R. Citro | E. Bossone | M. Silberbach | L. Perrone | C. Bondy | Siddharth K. Prakash
[1] K. Eagle,et al. Abstract 490: Vertebral Artery Tortuosity Index is a Novel Biomarker of Surgery and Aortic Dissection or Rupture in Children and Young Adults: Findings From the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions , 2014 .
[2] Shuo Lin,et al. GLUT3 gene expression is critical for embryonic growth, brain development and survival. , 2014, Molecular genetics and metabolism.
[3] Jennifer F. Hughes,et al. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators , 2014, Nature.
[4] Edward J. Hollox,et al. Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease , 2014, Human molecular genetics.
[5] P. Gregersen,et al. A 129-kb Deletion on Chromosome 12 Confers Substantial Protection Against Rheumatoid Arthritis, Implicating the Gene SLC2A3 , 2013, Human mutation.
[6] A. Arai,et al. Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome , 2013, Journal of Medical Genetics.
[7] D. Milewicz,et al. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome , 2013, Genetics in Medicine.
[8] L. Lopez,et al. Moderate Aortic Enlargement and Bicuspid Aortic Valve Are Associated With Aortic Dissection in Turner Syndrome: Report of the International Turner Syndrome Aortic Dissection Registry , 2012, Circulation.
[9] M. Marazita,et al. Genome-wide Association Studies , 2012, Journal of dental research.
[10] Howard K. Song,et al. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. , 2011, American heart journal.
[11] S. Leal,et al. Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. , 2010, American journal of human genetics.
[12] Joshua M. Korn,et al. Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function , 2010, PLoS genetics.
[13] M. Lequin,et al. Combined cardiological and neurological abnormalities due to filamin A gene mutation , 2010, Clinical Research in Cardiology.
[14] Juan I. Young,et al. Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development. , 2010, Human molecular genetics.
[15] M. Silberbach,et al. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature , 2007, Journal of Medical Genetics.
[16] A. Carolyn. Care of Girls and Women With Turner Syndrome: A Guideline of the Turner Syndrome Study Group , 2009, Pediatrics.
[17] S. Izraeli,et al. Constitutional aneuploidy and cancer predisposition. , 2009, Human molecular genetics.
[18] S. Leal,et al. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome) , 2009, European Journal of Human Genetics.
[19] Yuan-Tsong Chen,et al. Mutations in the SLC2A10 gene cause arterial abnormalities in mice. , 2008, Cardiovascular research.
[20] A. Swerdlow,et al. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. , 2008, The Lancet. Oncology.
[21] C M Otto,et al. The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape , 2008, Heart.
[22] Joseph T. Glessner,et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. , 2007, Genome research.
[23] Jing Chen,et al. Improved human disease candidate gene prioritization using mouse phenotype , 2007, BMC Bioinformatics.
[24] V. Ho,et al. Aortic Dilatation and Dissection in Turner Syndrome , 2007, Circulation.
[25] B. Shin,et al. Glucose transporter isoform-3 mutations cause early pregnancy loss and fetal growth restriction. , 2007, American journal of physiology. Endocrinology and metabolism.
[26] Luis Vidali,et al. Filamin A (FLNA) is required for cell–cell contact in vascular development and cardiac morphogenesis , 2006, Proceedings of the National Academy of Sciences.
[27] J. Belmont,et al. Echocardiographic Evaluation of Asymptomatic Parental and Sibling Cardiovascular Anomalies Associated With Congenital Left Ventricular Outflow Tract Lesions , 2004, Pediatrics.
[28] Lisa J. Martin,et al. Bicuspid aortic valve is heritable. , 2004, Journal of the American College of Cardiology.
[29] A. Rosenthal,et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome , 1997, Nature Genetics.
[30] J. Olsen,et al. Occurrence of cancer in women with Turner syndrome. , 1996, British Journal of Cancer.
[31] K. Omoe,et al. Expression level of Rps4 mRNA in 39,X mice and 40,XX mice. , 1994, Cytogenetics and cell genetics.