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1. Full Text Brain volume and metabolism in fetuses with congenital heart disease: Evaluation with quantitative magnetic resonance imaging and spectroscopy
by Limperopoulos, Catherine and Tworetzky, Wayne and McElhinney, Doff B and Newburger, Jane W and Brown, David W and Robertson, Richard L and Guizard, Nicolas and McGrath, Ellen and Geva, Judith and Annese, David and Dunbar-Masterson, Carolyn and Trainor, Bethany and Laussen, Peter C and Du Plessis, Adré J
Circulation, ISSN 0009-7322, 01/2010, Volume 121, Issue 1, pp. 26 - 33
Background-Adverse neurodevelopmental outcome is an important source of morbidity in children with congenital heart disease (CHD). A significant proportion of... 
Brain | Pediatrics | Fetal | Congenital | Magnetic resonance imaging | SURGERY | magnetic resonance imaging | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | FETAL-BRAIN | RANDOMIZED-TRIAL | NEURODEVELOPMENTAL OUTCOMES | congenital | brain | fetal | pediatrics | INFANTS | PERIPHERAL VASCULAR DISEASE | HYPOTHERMIC CARDIOPULMONARY BYPASS | CEREBRAL-BLOOD-FLOW | MR SPECTROSCOPY | HEMATOLOGY | CIRCULATORY ARREST | Choline - metabolism | Protons | Prospective Studies | Magnetic Resonance Spectroscopy | Humans | Lactic Acid - metabolism | Prenatal Diagnosis | Heart Defects, Congenital - pathology | Magnetic Resonance Imaging - methods | Brain - abnormalities | Gestational Age | Brain - metabolism | Pregnancy | Aspartic Acid - metabolism | Female | Heart Defects, Congenital - metabolism | Aspartic Acid - analogs & derivatives | Imaging, Three-Dimensional | Usage | Fetal diseases | Spectrum analysis | Physiological aspects | Congenital heart disease | Diagnosis | Research
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2. Full Text Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease
by Smemo, Scott and Campos, Luciene C and Moskowitz, Ivan P and Krieger, José E and Pereira, Alexandre C and Nobrega, Marcelo A
Human Molecular Genetics, ISSN 0964-6906, 07/2012, Volume 21, Issue 14, pp. 3255 - 3263
Recent studies have identified the genetic underpinnings of a growing number of diseases through targeted exome sequencing. However, this strategy ignores the... 
TRANSCRIPTION FACTORS | COMMON VARIANTS | LIMB | CANCER RISK | DEFECTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MUTATIONS | HOLT-ORAM-SYNDROME | IDENTIFICATION | EXPRESSION | GENOME | Abnormalities, Multiple - metabolism | Heart Defects, Congenital - embryology | Heart - embryology | Humans | Molecular Sequence Data | Abnormalities, Multiple - embryology | Heart Defects, Congenital - genetics | Lower Extremity Deformities, Congenital - embryology | Base Sequence | Heart Septal Defects, Atrial - metabolism | Upper Extremity Deformities, Congenital - embryology | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Lower Extremity Deformities, Congenital - metabolism | Animals, Genetically Modified | Zebrafish | Upper Extremity Deformities, Congenital - metabolism | Heart Septal Defects, Atrial - embryology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Homozygote | Point Mutation | Animals | Enhancer Elements, Genetic | Heart Defects, Congenital - metabolism | Mice | Neonates | Animal models | Enhancers | Transcription factors | genomics | Genetic engineering | Mutation | Bioinformatics | Heart diseases | Holt-Oram syndrome
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3. Full Text Reduced Fetal Cerebral Oxygen Consumption Is Associated With Smaller Brain Size in Fetuses With Congenital Heart Disease
by Sun, Liqun and Macgowan, Christopher K and Sled, John G and Yoo, Shi-Joon and Manlhiot, Cedric and Porayette, Prashob and Grosse-Wortmann, Lars and Jaeggi, Edgar and McCrindle, Brian W and Kingdom, John and Hickey, Edward and Miller, Steven and Seed, Mike
Circulation, ISSN 0009-7322, 04/2015, Volume 131, Issue 15, pp. 1313 - 1323
BACKGROUND—Fetal hypoxia has been implicated in the abnormal brain development seen in newborns with congenital heart disease (CHD). New magnetic resonance... 
Brain | Pediatrics | Hemodynamics | Magnetic resonance imaging | Heart diseases | magnetic resonance imaging | CARDIAC & CARDIOVASCULAR SYSTEMS | CIRCULATION | INJURY | brain | BLOOD-FLOW | NEWBORNS | hemodynamics | VIVO MRI MEASUREMENT | ULTRASOUND | heart diseases | pediatrics | PERIPHERAL VASCULAR DISEASE | SATURATION | 2ND-HALF | Brain - embryology | Prospective Studies | Cerebrovascular Circulation - physiology | Cross-Sectional Studies | Humans | Oximetry | Fetus - metabolism | Organ Size | Hemodynamics - physiology | Oxygen Consumption - physiology | Pregnancy Trimester, Third | Case-Control Studies | Brain - metabolism | Pregnancy | Magnetic Resonance Imaging | Brain - pathology | Adult | Female | Heart Defects, Congenital - metabolism | Regional Blood Flow - physiology | regional blood flow | circulation
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4. Full Text Transcription Factor Pathways and Congenital Heart Disease
by McCulley, David J and Black, Brian L
2012, Current Topics in Developmental Biology, ISBN 0123877865, Volume 100, 25
Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in... 
Human | Transcription factors | MEF2C | ASD | Mouse | VSD | Nkx2-5 | GATA4 | Tbx5 | Pediatric | Conduction system | Septal defect | DEPENDENT PROBE AMPLIFICATION | ALAGILLE-SYNDROME | VENTRICULAR SEPTAL-DEFECTS | FACTOR GENE NKX2.5 | CARDIAC-SPECIFIC TRANSCRIPTION | MOWAT-WILSON-SYNDROME | CAUSE CHAR-SYNDROME | DEVELOPMENTAL BIOLOGY | CLINICAL-FEATURES | HOLT-ORAM-SYNDROME | CHROMOSOME 22Q11 DELETIONS | Transcription Factors - metabolism | Heart Defects, Congenital - genetics | Animals | Signal Transduction | Heart - embryology | Humans | Heart Defects, Congenital - metabolism | Transcription Factors - genetics | Myocardium - cytology | mouse | conduction system | human | septal defect | pediatric
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5. Full Text Cerebral Oxygen Metabolism in Neonates with Congenital Heart Disease Quantified by MRI and Optics
by Jain, Varsha and Buckley, Erin M and Licht, Daniel J and Lynch, Jennifer M and Schwab, Peter J and Naim, Maryam Y and Lavin, Natasha A and Nicolson, Susan C and Montenegro, Lisa M and Yodh, Arjun G and Wehrli, Felix W
Journal of Cerebral Blood Flow & Metabolism, ISSN 0271-678X, 3/2014, Volume 34, Issue 3, pp. 380 - 388
Neonatal congenital heart disease (CHD) is associated with altered cerebral hemodynamics and increased risk of brain injury. Two novel noninvasive techniques,... 
cerebral blood flow | near-infrared spectroscopy | diffuse optics | neonatal ischemia | MRI | cerebral hemodynamics | PRETERM INFANTS | cerebral hemodynannics | BLOOD-FLOW | NEUROSCIENCES | CHILDREN | ARTERIAL | NORMAL VALUES | MAGNETIC-SUSCEPTIBILITY | ENDOCRINOLOGY & METABOLISM | BRAIN MATURATION | PERFUSION | HEMATOLOGY | CONSUMPTION | SATURATION | Cerebral Cortex - blood supply | Cerebrovascular Circulation - physiology | Humans | Cerebral Cortex - pathology | Heart Defects, Congenital - pathology | Cerebral Cortex - metabolism | Oxygen - blood | Oxygen - metabolism | Magnetic Resonance Imaging | Spectroscopy, Near-Infrared | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Optics and Photonics | Infant, Newborn | Original
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6. Full Text Temporal and anatomic risk profile of brain injury with neonatal repair of congenital heart defects
by McQuillen, Patrick S and Barkovich, A. James and Hamrick, Shannon E.G and Perez, Marta and Ward, Phil and Glidden, David V and Azakie, Anthony and Karl, Tom and Miller, Steven P
Stroke, ISSN 0039-2499, 02/2007, Volume 38, Issue 2, pp. 736 - 741
Background and Purpose-Brain injury is common in newborns with congenital heart disease (CHD) requiring neonatal surgery. The purpose of this study is to... 
Stroke | White matter injury | Magnetic resonance imaging | Heart defects, congenital | magnetic resonance imaging | SOMATIC CIRCULATORY SUPPORT | GREAT-ARTERIES | ABNORMALITIES | NEWBORNS | stroke | REGIONAL CEREBRAL PERFUSION | TRANSPOSITION | CLINICAL NEUROLOGY | CHILDREN | CARDIAC-SURGERY | DISEASE | heart defects, congenital | PERIPHERAL VASCULAR DISEASE | PREMATURE | white matter injury | Postoperative Complications - etiology | Prospective Studies | Heart Defects, Congenital - surgery | Humans | Risk Factors | Postoperative Complications - metabolism | Brain Injuries - metabolism | Postoperative Complications - diagnosis | Brain Injuries - diagnosis | Time Factors | Heart Defects, Congenital - diagnosis | Heart Defects, Congenital - metabolism | Brain Injuries - etiology | Infant, Newborn | Cohort Studies
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7. Full Text A review of craniofacial disorders caused by spliceosomal defects
by Lehalle, D and Wieczorek, D and Zechi‐Ceide, R.M and Passos‐Bueno, M.R and Lyonnet, S and Amiel, J and Gordon, C.T
Clinical Genetics, ISSN 0009-9163, 11/2015, Volume 88, Issue 5, pp. 405 - 415
The spliceosome is a large ribonucleoprotein complex that removes introns from pre‐ mRNA transcripts. Mutations in EFTUD2 , encoding a component of the major... 
mandibulofacial dysostosis | congenital malformations | spliceosome | craniofacial | Spliceosome | Craniofacial | Congenital malformations | Mandibulofacial dysostosis | ESOPHAGEAL ATRESIA | MENTAL-RETARDATION | DEVELOPMENTAL DISORDER | AUTOSOMAL RECESSIVE INHERITANCE | COSTO-MANDIBULAR SYNDROME | DOMINANT RETINITIS-PIGMENTOSA | MESSENGER-RNA | CHOANAL ATRESIA | GENETICS & HEREDITY | OTO-FACIAL SYNDROME | RNA-Binding Proteins - genetics | Clubfoot - metabolism | Deafness - genetics | Spliceosomes - genetics | Humans | Male | Ribonucleoprotein, U5 Small Nuclear - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Ribs - abnormalities | Clubfoot - genetics | Heart Defects, Congenital - genetics | Micrognathism - metabolism | Spliceosomes - metabolism | Mandibulofacial Dysostosis - genetics | Ribs - metabolism | Facies | Hand Deformities, Congenital - metabolism | Female | Peptide Elongation Factors - genetics | Eukaryotic Initiation Factor-4A - genetics | Choanal Atresia - genetics | Micrognathism - genetics | RNA Splicing Factors | Pierre Robin Syndrome - metabolism | DEAD-box RNA Helicases - genetics | Choanal Atresia - metabolism | Pierre Robin Syndrome - genetics | Hand Deformities, Congenital - genetics | Deafness - metabolism | Heart Defects, Congenital - metabolism | Mandibulofacial Dysostosis - metabolism | Mutation | Deafness - congenital | Genetic disorders | Defects
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8. Full Text Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome
by Hofmann, Jennifer J and Briot, Anais and Enciso, Josephine and Zovein, Ann C and Ren, Shuxun and Zhang, Zhen W and Radtke, Freddy and Simons, Michael and Wang, Yibin and Luisa Iruela-Arispe, M
Development (Cambridge), ISSN 0950-1991, 12/2012, Volume 139, Issue 23, pp. 4449 - 4460
The Notch signaling pathway is an important contributor to the development and homeostasis of the cardiovascular system. Not surprisingly, mutations in Notch... 
Cardiac valves | Aortic valves | Mouse | EndMT | Notch | CELLS | CUSHION MORPHOGENESIS | VERSICAN | DEVELOPMENTAL BIOLOGY | CARDIAC DEVELOPMENT | TO-MESENCHYMAL TRANSITION | DISEASE | NOTCH LIGAND JAGGED1 | MUTATIONS | EXPRESSION | Calcinosis - genetics | Receptors, Notch - metabolism | Receptors, Notch - genetics | Coronary Vessel Anomalies - metabolism | Morphogenesis | Cardiomyopathies - genetics | Heart Defects, Congenital - genetics | Alagille Syndrome - genetics | Serrate-Jagged Proteins | Hypertrophy, Right Ventricular - metabolism | Hypertrophy, Right Ventricular - genetics | Organ Culture Techniques | Jagged-1 Protein | Calcium-Binding Proteins - metabolism | Heart Septal Defects, Ventricular - genetics | Endothelial Cells - metabolism | Membrane Proteins - genetics | Mice, Inbred C57BL | Intercellular Signaling Peptides and Proteins - genetics | Endothelium - cytology | Mice, Knockout | Heart Septal Defects, Ventricular - metabolism | Animals | Coronary Vessel Anomalies - genetics | Endothelium - metabolism | Endothelial Cells - cytology | Cardiomyopathies - metabolism | Heart Valve Diseases - metabolism | Heart Valve Diseases - genetics | Heart Defects, Congenital - metabolism | Mice | Calcium-Binding Proteins - genetics
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9. Full Text Endocardial Notch Signaling in Cardiac Development and Disease
by Luxán, Guillermo and D’Amato, Gaetano and MacGrogan, Donal and de la Pompa, José Luis
Circulation Research, ISSN 0009-7330, 01/2016, Volume 118, Issue 1, pp. e1 - e18
The Notch signaling pathway is an ancient and highly conserved signaling pathway that controls cell fate specification and tissue patterning in the embryo and... 
heart ventricles | heart valves | Notch signaling | cardiomyopathies | endocardium | CARDIAC & CARDIOVASCULAR SYSTEMS | MICE LACKING | EPITHELIAL-MESENCHYMAL TRANSITION | LEFT-VENTRICULAR NONCOMPACTION | MOUSE SEMILUNAR VALVES | ALAGILLE-SYNDROME | PERIPHERAL VASCULAR DISEASE | SMOOTH-MUSCLE-CELLS | CONGENITAL HEART-DEFECTS | NEURAL CREST | HEMATOLOGY | TRANSCRIPTION FACTOR | AORTIC-VALVE DISEASE | Animals | Heart Diseases - metabolism | Receptors, Notch - metabolism | Humans | Heart Defects, Congenital - pathology | Signal Transduction - physiology | Endocardium - growth & development | Heart Defects, Congenital - metabolism | Endocardium - pathology | Heart Diseases - pathology | Endocardium - metabolism
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10. Full Text Placental but Not Heart Defects Are Associated with Elevated Hypoxia-Inducible Factor α Levels in Mice Lacking Prolyl Hydroxylase Domain Protein 2
by Kotaro Takeda and Vivienne C. Ho and Hiromi Takeda and Li-Juan Duan and Andras Nagy and Guo-Hua Fong
Molecular and Cellular Biology, ISSN 0270-7306, 11/2006, Volume 26, Issue 22, pp. 8336 - 8346
Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley... 
TROPHOBLAST | SUPPRESSOR | RESPONSES | MESSENGER-RNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | IN-VIVO | TRANSCRIPTION | EMBRYONIC LETHALITY | HIF-1-ALPHA | O-2 HOMEOSTASIS | HIF-ALPHA | CELL BIOLOGY | Gene Targeting | Heart Defects, Congenital - chemically induced | Heart Defects, Congenital - embryology | Mice, Inbred C57BL | Placenta - embryology | Hypoxia-Inducible Factor 1 - metabolism | Mice, Knockout | Procollagen-Proline Dioxygenase - metabolism | Cell Hypoxia | Placenta - metabolism | Animals | Protein Isoforms - metabolism | Basic Helix-Loop-Helix Transcription Factors - metabolism | Procollagen-Proline Dioxygenase - genetics | Placenta - pathology | Heart Defects, Congenital - metabolism | Mice | Cardiovascular System - embryology | Giant Cells - pathology | Protein Isoforms - genetics
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11. Full Text Murine dishevelled 3 functions in redundant pathways with dishevelled 1 and 2 in normal cardiac outflow tract, cochlea, and neural tube development
by Etheridge, S. Leah and Ray, Saugata and Li, Shuangding and Hamblet, Natasha S and Lijam, Nardos and Tsang, Michael and Greer, Joy and Kardos, Natalie and Wang, Jianbo and Sussman, Daniel J and Chen, Ping and Wynshaw-Boris, Anthony
PLoS Genetics, ISSN 1553-7390, 11/2008, Volume 4, Issue 11, pp. e1000259 - e1000259
Dishevelled (Dvl) proteins are important signaling components of both the canonical beta-catenin/Wnt pathway, which controls cell proliferation and patterning,... 
HAIR-CELLS | WNT SIGNALING PATHWAYS | INNER-EAR | GENE | PLANAR-CELL-POLARITY | WNT/BETA-CATENIN | LOOP-TAIL | MOUSE | GENETICS & HEREDITY | CONVERGENT EXTENSION | PCP PATHWAY | Cochlea - embryology | Heart Defects, Congenital - embryology | Heart - embryology | Humans | Neural Tube Defects - embryology | Neural Tube Defects - genetics | Male | Neural Tube Defects - metabolism | Phosphoproteins - metabolism | Wnt Proteins - metabolism | Embryo, Mammalian - metabolism | Morphogenesis | Heart Defects, Congenital - genetics | Cochlea - metabolism | Myocardium - metabolism | Neural Tube - metabolism | Female | Dishevelled Proteins | Signal Transduction | Phosphoproteins - genetics | Mice, Knockout | Phenotype | Animals | Adaptor Proteins, Signal Transducing - genetics | Heart Defects, Congenital - metabolism | Mice | Adaptor Proteins, Signal Transducing - metabolism | Neural Tube - embryology | Physiological aspects | Cellular proteins | Genetic aspects | Cellular signal transduction | Neural tube | Research | Proteins | Heart | Neurosciences | Microscopy | Genes | Cloning | Kinases
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