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1. Full Text Maternal and foetal angiogenic imbalance in congenital heart defects
by Llurba, Elisa and Sánchez, Olga and Ferrer, Queralt and Nicolaides, Kypros H and Ruíz, Aina and Domínguez, Camen and Sánchez-De-Toledo, Joan and García-García, Belén and Soro, Gemma and Arévalo, Silvia and Goya, Maria and Suy, Anna and Pérez-Hoyos, Santiago and Alijotas-Reig, Jaume and Carreras, Elena and Cabero, Lluís
European heart journal, ISSN 0195-668X, 2014, Volume 35, Issue 11, pp. 701 - 707
Soluble endoglin | sFlt-1 | Placental growth factor | Vascular endothelial growth factor | Congenital heart defects | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Heart Defects, Congenital - embryology | Humans | Fetus - metabolism | Receptors, Cell Surface - metabolism | Vascular Endothelial Growth Factor Receptor-1 - metabolism | Pregnancy Proteins - metabolism | Vascular Endothelial Growth Factor A - metabolism | Case-Control Studies | Antigens, CD - metabolism | Pregnancy | Endoglin | Neovascularization, Physiologic - physiology | Pregnancy Complications, Cardiovascular - metabolism | Fetal Blood - chemistry | Placenta Growth Factor | Adult | Female | Index Medicus
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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
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Heart | Biological and medical sciences | Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | 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 | Index Medicus | Neonates | Animal models | Enhancers | Transcription factors | genomics | Genetic engineering | Mutation | Bioinformatics | Heart diseases | Holt-Oram syndrome
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3. 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
mandibulofacial dysostosis | congenital malformations | spliceosome | craniofacial | Spliceosome | Craniofacial | Congenital malformations | Mandibulofacial dysostosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | Index Medicus
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4. Full Text Type 2 diabetes mellitus induces congenital heart defects in murine embryos by increasing oxidative stress, endoplasmic reticulum stress, and apoptosis
by Wu, Yanqing, BS and Reece, E. Albert, MD, PhD, MBA and Zhong, Jianxiang, PhD and Dong, Daoyin, PhD and Shen, Wei-Bin, PhD and Harman, Christopher R., MD and Yang, Peixin, PhD
American journal of obstetrics and gynecology, ISSN 0002-9378, 2016, Volume 215, Issue 3, pp. 366.e1 - 366.e10
Obstetrics and Gynecology | type 2 diabetes mellitus | apoptosis | heart defects | endoplasmic reticulum stress | oxidative stress | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Protein Kinases - metabolism | Phosphorylation | Heart Defects, Congenital - embryology | Oxidative Stress | Embryo, Mammalian | Caspase 3 - metabolism | Caspase 8 - metabolism | Endoplasmic Reticulum - metabolism | RNA Splicing | Diabetes Mellitus, Experimental | Myocardium - metabolism | Female | Protein-Serine-Threonine Kinases - metabolism | Diabetes, Gestational | Endoribonucleases - metabolism | Heat-Shock Proteins - metabolism | Mice, Inbred C57BL | Heart Defects, Congenital - pathology | Myocardium - pathology | Pregnancy | Animals | Endoplasmic Reticulum Stress | Lipid Peroxidation | Transcription Factor CHOP - metabolism | X-Box Binding Protein 1 - genetics | Apoptosis | Type 2 diabetes | Oxidative stress | Medical colleges | Embryonic development | Genetic disorders | Type 1 diabetes | Analysis | Congenital heart disease | Obstetrics | Index Medicus | Abridged Index Medicus
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5. Full Text A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects
by Posch, Maximilian G and Gramlich, Michael and Sunde, Margaret and Schmitt, Katharina R and Lee, Stella H Y and Richter, Silke and Kersten, Andrea and Perrot, Andreas and Panek, Anna N and Al Khatib, Iman H and Nemer, Georges and Mégarbané, André and Dietz, Rainer and Stiller, Brigitte and Berger, Felix and Harvey, Richard P and Özcelik, Cemil
Journal of medical genetics, ISSN 0022-2593, 04/2010, Volume 47, Issue 4, pp. 230 - 235
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Transcriptional Activation | Cercopithecus aethiops | Molecular Sequence Data | Male | Case-Control Studies | Chromatin Immunoprecipitation | Base Sequence | Heart Septal Defects, Atrial - metabolism | Female | Heart Septal Defects, Atrial - genetics | Circular Dichroism | Foramen Ovale, Patent - genetics | Models, Molecular | DNA - metabolism | T-Box Domain Proteins - genetics | Heart Valves - abnormalities | T-Box Domain Proteins - metabolism | DNA - genetics | Foramen Ovale, Patent - metabolism | Sequence Alignment | Animals | Pedigree | Adolescent | Structural Homology, Protein | Mutation | COS Cells | Atrial septal defects | Heart valve diseases | Transcription factors | Gene mutations | Physiological aspects | Development and progression | Genetic aspects | Research | Index Medicus | molecular genetics | Congenital heart defect | patent foramen ovale | cardiovascular medicine | TBX20 | clinical genetics | Original | 1506 | atrial septal defect
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6. Full Text NAD Deficiency, Congenital Malformations, and Niacin Supplementation
by Shi, Hongjun and Enriquez, Annabelle and Rapadas, Melissa and Martin, Ella M.M.A and Wang, Roni and Moreau, Julie and Lim, Chai K and Szot, Justin O and Ip, Eddie and Hughes, James N and Sugimoto, Kotaro and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Maghzal, Ghassan J and Halliday, Jake and Smith, Janine and Colley, Alison and Mark, Paul R and Collins, Felicity and Sillence, David O and Winlaw, David S and Ho, Joshua W.K and Guillemin, Gilles J and Brown, Matthew A and Kikuchi, Kazu and Thomas, Paul Q and Stocker, Roland and Giannoulatou, Eleni and Chapman, Gavin and Duncan, Emma L and Sparrow, Duncan B and Dunwoodie, Sally L
The New England journal of medicine, ISSN 0028-4793, 08/2017, Volume 377, Issue 6, pp. 544 - 552
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Limb Deformities, Congenital - genetics | Hydrolases - genetics | Humans | Male | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Niacin - therapeutic use | Heart Defects, Congenital - prevention & control | NAD - deficiency | NAD - biosynthesis | Female | Disease Models, Animal | Trachea - abnormalities | Hydrolases - metabolism | Limb Deformities, Congenital - prevention & control | NAD - genetics | Congenital Abnormalities - prevention & control | Esophagus - abnormalities | Sequence Analysis, DNA | Mice, Knockout | Anal Canal - abnormalities | Animals | Kidney - abnormalities | 3-Hydroxyanthranilate 3,4-Dioxygenase - genetics | Mice | Mutation | Dietary Supplements | 3-Hydroxyanthranilate 3,4-Dioxygenase - metabolism | Safety and security measures | Gene mutations | NAD (Coenzyme) | Dosage and administration | Birth defects | Research | Niacin | CRISPR | Dioxygenase | Enzymes | Congenital diseases | Congenital defects | Adenine | Tryptophan | Prenatal development | Gestation | Metabolism | Patients | Embryos | NAD | Metabolites | Vitamin B | Genetics | Nicotinamide | Supplementation | Index Medicus | Abridged Index Medicus
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7. Full Text Diabetes and congenital heart defects: A systematic review, meta-analysis, and modeling project
by Simeone, Regina M and Devine, Owen J and Marcinkevage, Jessica A and Gilboa, Suzanne M and Razzaghi, Hilda and Bardenheier, Barbara H and Sharma, Andrea J and Honein, Margaret A
American journal of preventive medicine, ISSN 0749-3797, 02/2015, Volume 48, Issue 2, pp. 195 - 204
Medicine, General & Internal | Public, Environmental & Occupational Health | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Pregnancy | Pregnancy in Diabetics | Heart Defects, Congenital - prevention & control | Humans | Heart Defects, Congenital - epidemiology | Female | Models, Statistical | Blood Glucose - metabolism | Monte Carlo Method | Monte Carlo method | Genetic disorders | Analysis | Chronic diseases | Models | Congenital heart disease | Risk factors | Index Medicus
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