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European Journal of Human Genetics, ISSN 1018-4813, 08/2014, Volume 22, Issue 8, pp. 1026 - 1033
Journal Article
Clinical Oral Investigations, ISSN 1432-6981, 1/2018, Volume 22, Issue 1, pp. 395 - 400
Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been... 
Goldenhar syndrome | Submandibular gland, MRI | Dentistry | Parotid gland | Oculo-auriculo-vertebral spectrum | NERVE | GOLDENHAR-SYNDROME | PAROTID-GLAND | DENTISTRY, ORAL SURGERY & MEDICINE | MICROSOMIA | Hypoplasia | Vertebrae | Spine | Glands | Salivary gland | Swallowing | Inner ear | Feeding | Genotype & phenotype | Magnetic resonance imaging | Aplasia | Carotid artery
Journal Article
Optometry and Vision Science, ISSN 1040-5488, 11/2016, Volume 93, Issue 11, pp. 1449 - 1453
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 10/2019, Volume 7, Issue 10, pp. e959 - n/a
Background Oculo‐auriculo‐vertebral spectrum (OAVS) is a craniofacial developmental disorder that affects structures derived from the first and second... 
candidate genes | SNVs | oculo‐auriculo‐vertebral spectrum (OAVS) | sequencing | Arches | Genes | Genomes | Nucleotides | Experiments | Heterogeneity | Etiology | Conflicts of interest | Otx2 protein | Genetic factors | Y Chromosomes | Pathogens | Phenotypes | Mandible | Vertebrae | Abnormalities | Gene expression | Patients | Pharynx | Pathogenicity | Algorithms | Stem cells | Software | Heritability | Mutation | Binding sites | Anomalies
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2007, Volume 143A, Issue 12, pp. 1317 - 1325
Swedish patients with the oculo‐auriculo‐vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to... 
in vitro fertilization | Goldenhar syndrome | autism spectrum disorder | embryonic development | oculo‐auriculo‐vertebral (OAV) spectrum | intracytoplasmatic sperm injection (ICSI) | In vitro fertilization | Embryonic development | Intracytoplasmatic sperm injection (ICSI) | Oculo-auriculo-vertebral (OAV) spectrum | Autism spectrum disorder | COMPLEX | FERTILIZATION | HEMIFACIAL MICROSOMIA | AUTISTIC BEHAVIOR | OCULOAURICULOVERTEBRAL SPECTRUM | MALFORMATIONS | oculo-auriculo-vertebral (OAV) spectrum | INFANTS | GENETICS & HEREDITY | DIABETIC MOTHERS | MANIFESTATIONS | Goldenhar Syndrome - pathology | Prospective Studies | Ear - abnormalities | Humans | Risk Factors | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Feeding and Eating Disorders - pathology | Sensation Disorders - pathology | Neuropsychological Tests | Spine - abnormalities | Speech Disorders - pathology | Cerebrum - abnormalities | Sweden | Eye Abnormalities - pathology | Adolescent | Female | Child | Pediatrics | Pediatrik | Spine | Heart Defects | Kardiologi | Eating Disorders | Eye Abnormalities | Oftalmologi | Cerebrum | Psykiatri | Genetics | Ophthalmology | Goldenhar Syndrome | Intellectual Disability | Neurologi | Congenital | Abnormalities | Preschool | Sensation Disorders | Speech Disorders | Neurology | Pathology | Cardiac and Cardiovascular Systems | Ear | Psychiatry
Journal Article
Italian Journal of Anatomy and Embryology, ISSN 1122-6714, 2018, Volume 123, Issue 3, pp. 202 - 210
Results: Among 500 children with orofacial clefts, associated or syndromic clefts were seen in 116 and atypical clefts in 21. [...]atypical clefts constituted... 
Oblique clefts | Oculo auriculo vertebral spectrum | Lateral clefts | Associated clefts | Pseudoclefts | Amniotic band sequence | Birth defects | Medical imaging | Orofacial clefts | Topography | Classification
Journal Article
Human Pathology: Case Reports, ISSN 2214-3300, 2018, Volume 15, pp. 50 - 53
AbstractOculo-auriculo-vertebral spectrum (OAVS), formerly known as Goldenhar syndrome is a complex congenital anomaly arising from mal-development of first... 
Pathology | Oculo-auriculo-vertebral spectrum | Goldenhar syndrome | Hemifacial microsomia
Journal Article
Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale, ISSN 1826-8838, 07/2018, Volume 91, Issue 1
The authors discuss about the relationships between oculoauriculo- vertebral spectrum (OAVS), a malformative condition affecting eyes, ears and vertebral... 
Lactate to Pyruvate ratio | Oculo-Auriculo-Vertebral Spectrum | Pyruvicemia | Lactacidemia | Malformation | Progressive external ophthalmoplegia
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2008, Volume 146A, Issue 14, pp. 1815 - 1819
Journal Article