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Journal of the American College of Cardiology, ISSN 0735-1097, 2012, Volume 60, Issue 5, pp. 397 - 403
Objectives The purpose of this study was describe the cardiovascular phenotype of the aneurysms-osteoarthritis syndrome (AOS) and to provide clinical... 
Cardiovascular | Internal Medicine | aneurysm | aorta | genetics | SMAD3 | cerebrovascular disorders | FIBROSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | TGF-BETA | CARDIOMYOPATHY | HEART-DISEASE | STIFFNESS | BICUSPID AORTIC-VALVE | MUTATIONS | MARFANS-SYNDROME | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Aortic Aneurysm, Thoracic - diagnostic imaging | Humans | Middle Aged | Image Interpretation, Computer-Assisted | Male | Cardiovascular Diseases - genetics | Cause of Death | Osteoarthritis - mortality | Young Adult | Smad3 Protein - genetics | Cardiovascular Diseases - diagnostic imaging | Cardiovascular Diseases - mortality | Adult | Aortic Aneurysm, Thoracic - mortality | Female | Genomic Structural Variation - genetics | Aneurysm - diagnostic imaging | Imaging, Three-Dimensional | Peptide Fragments - genetics | Natriuretic Peptide, Brain - genetics | Vascular Stiffness - genetics | Osteoarthritis - diagnostic imaging | Osteoarthritis - genetics | Syndrome | Aneurysm - genetics | Cerebrovascular Disorders - mortality | Pregnancy | Phenotype | Adolescent | Cerebrovascular Disorders - diagnostic imaging | Chromosome Aberrations | Survival Analysis | Aneurysm, Dissecting - diagnostic imaging | Aged | Cerebrovascular Disorders - genetics | Aneurysm - mortality | Aortography | Genes, Dominant - genetics | Aneurysm, Dissecting - mortality | Cohort Studies | Medical colleges | Peptides | Atrial fibrillation | Aneurysms | Genetic aspects | Universities and colleges | Cardiology | Transforming growth factors | Marfan syndrome | Natriuretic peptides | Osteoarthritis | Medical genetics | Studies | Genotype & phenotype | Sinuses | Medical imaging | Mortality | Tomography | Arthritis | Dissection | Patients | Age | Abdomen
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2012, Volume 49, Issue 1, pp. 47 - 57
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2015, Volume 17, Issue 11, p. 843
Two proa1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proa2(IV) chain encoded by COL4A2 and are the major component of the... 
Journal Article
Human mutation, ISSN 1059-7794, 2012, Volume 33, Issue 3, pp. 561 - 571
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 5, pp. 521 - 531
Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental... 
aplasia of alae nasi | cognitive impairment | Johanson–Blizzard syndrome | UBR1 | exocrine pancreatic insufficiency | Exocrine pancreatic insufficiency | Aplasia of alae nasi | Johanson-Blizzard syndrome | Cognitive impairment | PRENATAL ULTRASONOGRAPHIC DIAGNOSIS | COMPLEX | JOHANSON-BLIZZARD-SYNDROME | UBIQUITIN LIGASE | INVOLVEMENT | AUTOPSY FINDINGS | DIABETES-MELLITUS | MALFORMATIONS | SEQUENCE | GENETICS & HEREDITY | END RULE PATHWAY | Abnormalities, Multiple - pathology | Hypothyroidism - pathology | Nose - abnormalities | Growth Disorders - pathology | Humans | Databases, Genetic | Anus, Imperforate - pathology | Intellectual Disability - genetics | Pancreatic Diseases - pathology | Ectodermal Dysplasia - pathology | Dwarfism - pathology | Hypothyroidism - genetics | Abnormalities, Multiple - genetics | Nose - pathology | Intellectual Disability - pathology | Hearing Loss, Sensorineural - pathology | Hearing Loss, Sensorineural - genetics | Mutation - genetics | Pancreatic Diseases - genetics | Dwarfism - genetics | Phenotype | Anus, Imperforate - genetics | Ectodermal Dysplasia - genetics | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Ubiquitin | Genetic aspects | Thyroid hormones | Hypothyroidism | Ligases | Genotype & phenotype | Genetic disorders | Mutation | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2014, Volume 57, Issue 8, pp. 414 - 417
Journal Article
Journal of child neurology, ISSN 0883-0738, 2016, Volume 31, Issue 14, pp. 1598 - 1601
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2010, Volume 12, Issue 11, pp. 736 - 741
Purpose: To identify a molecular genetic cause in patients with a clinical diagnosis of osteogenesis imperfecta (OI) type I/IV. Methods: The authors performed... 
Journal Article
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 06/2012, Volume 156, Issue 22
Journal Article
European journal of human genetics, ISSN 1018-4813, 2011, Volume 19, Issue 3, pp. 247 - 252
Journal Article
Nederlands tijdschrift voor geneeskunde, ISSN 0028-2162, 2012, Volume 156, Issue 21, p. A4585
Osteogenesis imperfecta is a hereditary connective tissue disorder characterized primarily by fractures with no or small causal antecedent; in most patients... 
Collagen Type I - biosynthesis | Collagen Type I - genetics | Osteogenesis Imperfecta - diagnosis | DNA Mutational Analysis | Humans | Osteogenesis Imperfecta - genetics | Osteogenesis Imperfecta - classification
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 10/2017, Volume 60, Issue 10, pp. 536 - 540
We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic mutations (kEDS- ) who were... 
EDS | GENETICS & HEREDITY | MUTATIONS | Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase - genetics | Diagnosis, Differential | Scoliosis - genetics | Humans | Male | Delayed Diagnosis |