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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 | Developmental Field Defect | Congenital Triangular Alopecia
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 56 - 56
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia,... 
RESPIRATORY-CHAIN DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | MULTIPLE CONGENITAL-ANOMALIES | GENOTYPE-PHENOTYPE CORRELATIONS | PRENATAL SONOGRAPHIC DIAGNOSIS | VATER-ASSOCIATION | TOWNES-BROCKS-SYNDROME | ACID RECEPTORS RARS | GENETICS & HEREDITY | PALLISTER-HALL-SYNDROME | RIGHT PULMONARY AGENESIS | HOLT-ORAM-SYNDROME | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Radius - pathology | Kidney - pathology | Humans | Male | Tracheoesophageal Fistula - complications | Anus, Imperforate - pathology | Spine - abnormalities | Heart Defects, Congenital - genetics | Abnormalities, Multiple - epidemiology | Female | Spine - pathology | Anal Canal - pathology | Abnormalities, Multiple - genetics | Anus, Imperforate - diagnosis | Infant, Newborn | Trachea - abnormalities | Tracheoesophageal Fistula - epidemiology | Anus, Imperforate - complications | Heart Defects, Congenital - pathology | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Trachea - pathology | Limb Deformities, Congenital - diagnosis | Esophagus - pathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Anus, Imperforate - genetics | Tracheoesophageal Fistula - genetics | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Anus, Imperforate - epidemiology | Limb Deformities, Congenital - pathology | Care and treatment | Genetic aspects | Prognosis | Diagnosis | VATER syndrome
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 6805 - 12
Journal Article
Thoracic Surgery Clinics, ISSN 1547-4127, 02/2014, Volume 24, Issue 1, pp. 7 - 11
Journal Article
The Clinical Respiratory Journal, ISSN 1752-6981, 07/2017, Volume 11, Issue 4, pp. 440 - 447
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2007, Volume 117, Issue 12, pp. 3774 - 3785
Small airway fibrosis (bronchiolitis obliterans syndrome) is the primary obstacle to long-term survival following lung transplantation. Here, we show the... 
PULMONARY | MEDICINE, RESEARCH & EXPERIMENTAL | CELLS | BRONCHIOLITIS OBLITERANS SYNDROME | BRONCHIAL ARTERY REVASCULARIZATION | ANGIOGENESIS | GROWTH-FACTOR | HEART-LUNG TRANSPLANTATION | HYPOXIA | FIBROBLASTS | POTENTIAL CONTRIBUTION | Pulmonary Fibrosis - therapy | Graft Survival - immunology | Vascular Endothelial Growth Factor Receptor-2 - immunology | Transplantation, Homologous | Trachea - transplantation | Ischemia - immunology | Time Factors | Lung Transplantation - pathology | Microcirculation - immunology | Bronchiolitis Obliterans - pathology | Graft Rejection - pathology | Ischemia - pathology | Pulmonary Fibrosis - etiology | Endothelium, Vascular - immunology | Lung - pathology | Bronchiolitis Obliterans - etiology | Graft Rejection - therapy | Pulmonary Fibrosis - immunology | Bronchiolitis Obliterans - immunology | Trachea - blood supply | Pulmonary Fibrosis - pathology | Receptors, Interleukin-8B - immunology | Syndrome | Trachea - immunology | Trachea - pathology | Immunosuppression | Animals | Microcirculation - pathology | Lung Transplantation - immunology | Endothelium, Vascular - pathology | Mice | Mice, Inbred BALB C | Bronchiolitis Obliterans - therapy | Graft Rejection - immunology | Lung - blood supply | Lung - immunology | Transplantation | Pulmonary fibrosis | Research | Lungs | Health aspects | Risk factors
Journal Article
Journal Article