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Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2018, Volume 20, Issue 7, pp. 745 - 753
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants... 
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | AND/OR TRACHEOESOPHAGEAL FISTULA | DESCRIPTIVE EPIDEMIOLOGY | PREVALENCE | CONGENITAL-ANOMALIES | ENVIRONMENTAL-FACTORS | MALFORMATIONS | BIRTH-DEFECTS PREVENTION | GENETICS & HEREDITY | EXPERIENCE | PRENATAL-DIAGNOSIS | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus | Index Medicus
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2017, Volume 377, Issue 6, pp. 544 - 552
Genetic variants causing loss of function in the synthesis of nicotinamide adenine dinucleotide were shown to cause congenital malformations that comprise the... 
CAUSES SPONDYLOCOSTAL DYSOSTOSIS | KYNURENINE | TRYPTOPHAN | MEDICINE, GENERAL & INTERNAL | DEFECTS | METABOLISM | VARIANTS | HUMANS | MUTATIONS | SIRTUINS | ASSOCIATION | 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 | NADPH | 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
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 11/2010, Volume 182, Issue 10, pp. 1251 - 1261
Journal Article
The Laryngoscope, ISSN 0023-852X, 02/2018, Volume 128, Issue 2, pp. E59 - E67
Objective: Management of laryngotracheal stenosis (LTS) remains primarily surgical, with a critical need to identify targets for adjuvant therapy.... 
Human | trachea | laryngotracheal stenosis | collagen | glutamine | stenosis | iatrogenic | larynx | fibroblasts | scar | fibrosis | metabolism | aerobic glycolysis | glutamine antagonism | metabolic inhibitor | MEDICINE, RESEARCH & EXPERIMENTAL | APOPTOSIS | CELLS | MANAGEMENT | 6-DIAZO-5-OXO-L-NORLEUCINE DON | OTORHINOLARYNGOLOGY | MICE | DIFFERENTIATION | Fibrosis - drug therapy | Gene Expression - drug effects | Tracheal Stenosis - surgery | Humans | Middle Aged | Laryngostenosis - metabolism | Male | Fibrosis - metabolism | Glycolysis - drug effects | Tracheal Stenosis - drug therapy | Young Adult | Cicatrix - metabolism | Collagen - drug effects | Adult | Antimetabolites, Antineoplastic - pharmacology | Diazooxonorleucine - pharmacology | Female | Cell Culture Techniques | Iatrogenic Disease | Real-Time Polymerase Chain Reaction | Fibroblasts - metabolism | Laryngostenosis - drug therapy | Tracheal Stenosis - metabolism | Collagen - metabolism | Cicatrix - drug therapy | Oxygen Consumption - drug effects | Fibroblasts - drug effects | Aged | Cell Proliferation - drug effects | Laryngostenosis - surgery | Glucose metabolism | Medical errors | Collagen | Genes | Fibrosis | Physiological aspects | Stenosis | Muscle proteins | Gene expression | Adenosine triphosphate | Glutamine | Fibroblasts | Phosphorylation | Metabolism | Index Medicus
Journal Article
Kidney International, ISSN 0085-2538, 06/2014, Volume 85, Issue 6, pp. 1310 - 1317
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2393 - 2406
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently... 
congenital triangular alopecia | aventriculy | VACTERL | holoprosencephaly | developmental field defect | rhombencephalosynapsis | Gómez‐López‐Hernández syndrome | Developmental field defect | Aventriculy | Rhombencephalosynapsis | Gómez-López-Hernández syndrome | Congenital triangular alopecia | Holoprosencephaly | DEFECTS | FUSION | HYDROCEPHALUS | ANOMALIES | AUTOSOMAL RECESSIVE INHERITANCE | BLASTOGENESIS | Gomez-Lopez-Hernandez syndrome | GENETICS & HEREDITY | MALFORMATION | ASSOCIATION | Abnormalities, Multiple - pathology | Kidney - pathology | Growth Disorders - pathology | Humans | Child, Preschool | Infant | Male | Neurocutaneous Syndromes - pathology | Cerebellum - abnormalities | Spine - abnormalities | Young Adult | Cerebellar Diseases - pathology | Adult | Craniofacial Abnormalities - pathology | Female | Spine - pathology | Anal Canal - pathology | Child | Infant, Newborn | Trachea - abnormalities | Rhombencephalon - abnormalities | Heart Defects, Congenital - pathology | Holoprosencephaly - pathology | Esophagus - abnormalities | Alopecia - pathology | Cerebellum - pathology | Anal Canal - abnormalities | Trachea - pathology | Esophagus - pathology | Phenotype | Kidney - abnormalities | Adolescent | Limb Deformities, Congenital - pathology | Rhombencephalon - pathology | Index Medicus | Developmental Field Defect | Congenital Triangular Alopecia
Journal Article