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life sciences & biomedicine (61) 61
science & technology (61) 61
humans (60) 60
oculoauriculovertebral spectrum (50) 50
goldenhar syndrome (44) 44
female (42) 42
male (35) 35
genetics & heredity (28) 28
hemifacial microsomia (27) 27
biological and medical sciences (23) 23
medical sciences (23) 23
infant (22) 22
child, preschool (20) 20
child (19) 19
goldenhar syndrome - diagnosis (19) 19
goldenhar syndrome - genetics (19) 19
surgery (17) 17
medical genetics (16) 16
adult (15) 15
dentistry (15) 15
infant, newborn (15) 15
oculoauriculovertebral dysplasia (14) 14
microtia (13) 13
adolescent (12) 12
birth defects (12) 12
dentistry, oral surgery & medicine (12) 12
goldenhar syndrome - complications (12) 12
pregnancy (11) 11
ear - abnormalities (10) 10
phenotype (10) 10
abnormalities, multiple - genetics (9) 9
oculoauriculovertebral syndrome (9) 9
diseases of the osteoarticular system (8) 8
malformations and congenital and or hereditary diseases involving bones. joint deformations (8) 8
pediatrics (8) 8
abnormalities, multiple - diagnosis (7) 7
complex syndromes (7) 7
goldenhar syndrome - pathology (7) 7
otorhinolaryngology (7) 7
otorhinolaryngology. stomatology (7) 7
radiography (7) 7
syndrome (7) 7
chromosome aberrations (6) 6
craniofacial microsomia (6) 6
ear, external - abnormalities (6) 6
goldenhar syndrome - diagnostic imaging (6) 6
mandible - abnormalities (6) 6
prevalence (6) 6
studies (6) 6
young adult (6) 6
abnormalities, multiple - pathology (5) 5
chromosome deletion (5) 5
comparative genomic hybridization (5) 5
facial asymmetry (5) 5
facial asymmetry - genetics (5) 5
genetic disorders (5) 5
goldenhar (5) 5
middle aged (5) 5
oculoauriculovertebral (5) 5
spine - abnormalities (5) 5
eyelids - abnormalities (4) 4
facial asymmetry - pathology (4) 4
genes, dominant (4) 4
goldenhar syndrome - surgery (4) 4
in situ hybridization, fluorescence (4) 4
karyotyping (4) 4
medical education (4) 4
non tumoral diseases (4) 4
pedigree (4) 4
retrospective studies (4) 4
tomography, x-ray computed (4) 4
translocation, genetic (4) 4
abnormalities, multiple - etiology (3) 3
animals (3) 3
brain - abnormalities (3) 3
care and treatment (3) 3
case report (3) 3
clinical neurology (3) 3
congenital diseases (3) 3
craniofacial abnormalities - pathology (3) 3
dermoid cyst - pathology (3) 3
diagnosis, differential (3) 3
dysplasia (3) 3
ear canal (3) 3
ears & hearing (3) 3
etiology (3) 3
facial asymmetry - diagnostic imaging (3) 3
first and second branchial arch (3) 3
genetics (3) 3
goldenhar anomaly (3) 3
goldenhar syndrome - epidemiology (3) 3
goldenhar syndrome - etiology (3) 3
goldenhar syndrome - physiopathology (3) 3
hearing loss (3) 3
medical research (3) 3
medicine & public health (3) 3
neurosciences & neurology (3) 3
nose - abnormalities (3) 3
oavs (3) 3
obstetrics & gynecology (3) 3
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1. Full Text Clinical and cytogenomic findings in OAV spectrum
by Bragagnolo, Silvia and Colovati, Mileny E. S and Souza, Malu Z and Dantas, Anelise G and Soares, Maria F and Melaragno, Maria I and Perez, Ana B
American journal of medical genetics. Part A, ISSN 1552-4825, 03/2018, Volume 176, Issue 3, pp. 638 - 648
craniofacial microsomia | Goldenhar Syndrome | hemifacial microsomia | oculoauriculovertebral syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Goldenhar Syndrome - epidemiology | Prevalence | Genetic Association Studies | Humans | Middle Aged | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | DNA Copy Number Variations | Young Adult | Phenotype | Goldenhar Syndrome - diagnosis | Adolescent | Chromosome Aberrations | Adult | Female | Cytogenetic Analysis | Child | Infant, Newborn | Medicine, Experimental | Medical research | Hypoplasia | Phenotypes | Mandible | Copy number | Heredity | Environmental factors | Chromosome 4 | Pharynx | Embryogenesis | Asymmetry | Etiology | Neck | Microtia | Polygenic inheritance | Appendages | Index Medicus
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2. Full Text Anomalous Extratemporal Facial Nerve in Oculoauriculovertebral Spectrum
by Head, Linden K and Xuan, Lisa and Boyd, Kirsty U and Peters, Daniel A
The Cleft palate-craniofacial journal, ISSN 1055-6656, 5/2018, Volume 55, Issue 5, pp. 769 - 772
Oculoauriculovertebral spectrum | Facial nerve | Microtia | Hemifacial microsomia | Life Sciences & Biomedicine | Dentistry, Oral Surgery & Medicine | Surgery | Science & Technology | Studies | Nervous system | Face | Patients | Medical procedures
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3. Full Text Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia
by Cohen, Noah and Cohen, Erica and Gaiero, Alberto and Zecca, Silvia and Fichera, Graziella and Baldi, Federica and Giordanetto, Joseph Felix and Mercier, Jacques Marie and Cohen, Amnon
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1208 - 1218
microtia | oculoauriculovertebral spectrum | anotia | Goldenhar | hemifacial microsomia | mandibular hypoplasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cleft Palate - diagnosis | Maxillofacial Abnormalities - genetics | Cleft Lip - diagnosis | Humans | Middle Aged | Facial Asymmetry - genetics | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Cleft Palate - genetics | Young Adult | Goldenhar Syndrome - physiopathology | Goldenhar Syndrome - diagnosis | Female | Child | Abnormalities, Multiple - genetics | Mandible - abnormalities | Maxillofacial Abnormalities - physiopathology | Facial Asymmetry - physiopathology | Cleft Palate - physiopathology | Maxillofacial Abnormalities - diagnosis | Ear, External - abnormalities | Cleft Lip - genetics | Cleft Lip - physiopathology | Abnormalities, Multiple - diagnosis | Facial Asymmetry - diagnosis | Adolescent | Ears & hearing | Index Medicus
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4. Full Text Facial asymmetry quantitative evaluation in oculoauriculovertebral spectrum
by Manara, Renzo and Manara, Renzo and Schifano, Giovanni and Schifano, Giovanni and Brotto, Davide and Brotto, Davide and Mardari, Rodica and Mardari, Rodica and Ghiselli, Sara and Ghiselli, Sara and Gerunda, Antonio and Gerunda, Antonio and Ghirotto, Cristina and Ghirotto, Cristina and Fusetti, Stefano and Fusetti, Stefano and Piacentile, Katherine and Piacentile, Katherine and Scienza, Renato and Scienza, Renato and Ermani, Mario and Ermani, Mario and Martini, Alessandro and Martini, Alessandro
Clinical oral investigations, ISSN 1432-6981, 3/2016, Volume 20, Issue 2, pp. 219 - 225
Oculoauriculovertebral spectrum | Facial asymmetry | Goldenhar syndrome | Dentistry | Computed tomography | Image reconstruction | Life Sciences & Biomedicine | Dentistry, Oral Surgery & Medicine | Science & Technology | Goldenhar Syndrome - diagnostic imaging | Humans | Child, Preschool | Infant | Male | Tomography, X-Ray Computed | Patient Care Planning | Goldenhar Syndrome - surgery | Adolescent | Female | Retrospective Studies | Imaging, Three-Dimensional | Child | Anatomic Landmarks
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5. Full Text Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication
by Ballesta‐Martínez, Maria Juliana and López‐González, Vanesa and Dulcet, Lluis Armengol and Rodríguez‐Santiago, Benjamín and Garcia‐Miñaúr, Sixto and Guillen‐Navarro, Encarna
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 2030 - 2035
oculoauriculovertebral spectrum | 14q23.1 duplication | Goldenhar syndrome | OTX2 | hemifacial microsomia | Oculoauriculovertebral spectrum | Hemifacial microsomia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Duplication | Humans | Goldenhar Syndrome - genetics | In Situ Hybridization, Fluorescence | Phenotype | Comparative Genomic Hybridization | Genes, Dominant | Goldenhar Syndrome - diagnosis | Otx Transcription Factors - genetics | Pedigree | Adult | Female | Chromosomes, Human, Pair 14 - genetics | Index Medicus | Central nervous system
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6. Full Text Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: A registry-based study in Europe
by Barisic, Ingeborg and Odak, Ljubica and Loane, Maria and Garne, Ester and Wellesley, Diana and Calzolari, Elisa and Dolk, Helen and Addor, Marie-Claude and Arriola, Larraitz and Bergman, Jorieke and Bianca, Sebastiano and Doray, Berenice and Khoshnood, Babak and Klungsoyr, Kari and McDonnell, Bob and Pierini, Anna and Rankin, Judith and Rissmann, Anke and Rounding, Catherine and Queisser-Luft, Annette and Scarano, Gioacchino and Tucker, David
European journal of human genetics : EJHG, ISSN 1018-4813, 08/2014, Volume 22, Issue 8, pp. 1026 - 1033
FERTILIZATION | GOLDENHAR-SYNDROME | ABNORMALITIES | Europe | DYSPLASIA | CLASSIFICATION | HEMIFACIAL MICROSOMIA | congenital anomalies | OAVS | epidemiology | DOMINANT OCULOAURICULOVERTEBRAL SPECTRUM | oculo-auriculo-vertebral spectrum | OCULOAURICULOFRONTONASAL SYNDROME | MANIFESTATIONS | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Abnormalities, Multiple - etiology | Prevalence | Developmental Disabilities - etiology | Humans | Prenatal Diagnosis | Risk Factors | Europe - epidemiology | Male | Developmental Disabilities - epidemiology | Pregnancy | Young Adult | Phenotype | Abnormalities, Multiple - diagnosis | Chromosome Aberrations | Abnormalities, Multiple - epidemiology | Adult | Female | Registries | Developmental Disabilities - diagnosis | Population Surveillance | In vitro fertilization | Neonates | Congenital defects | Genes | Stenosis | Population studies | Infants | Genomes | Birth | Epidemiology | Risk factors | Defects | Reproduction | Ear canal | Genetics | Chromosomes | Ultrasound | Public health | Vertebrae | Congenital diseases | Fetuses | Diabetes mellitus | Patients | Prenatal diagnosis | Ear | Epigenetics | Diabetes | Microtia | Index Medicus
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7. Full Text Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
by Rooryck, Caroline and Souakri, Noui and Cailley, Dorothée and Bouron, Julie and Goizet, Cyril and Delrue, Marie‐Ange and Marlin, Sandrine and Lacombe, Feclad Didier and Arveiler, Benoît
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2010, Volume 152A, Issue 8, pp. 1984 - 1989
array‐CGH | oculoauriculovertebral spectrum | Goldenhar syndrome | OAVS | Oculoauriculovertebral spectrum | Array-CGH | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biomarkers - metabolism | Oligonucleotide Array Sequence Analysis | Humans | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Gene Expression Profiling | Young Adult | Comparative Genomic Hybridization | Adolescent | Chromosome Aberrations | Adult | Female | Child | Infant, Newborn | Cohort Studies | Index Medicus
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8. Full Text Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
by Beleza-Meireles, Ana and Hart, Rachel and Clayton-Smith, Jill and Oliveira, Renata and Reis, Cláudia Falcão and Venâncio, Margarida and Ramos, Fabiana and Sá, Joaquim and Ramos, Lina and Cunha, Elizabete and Pires, Luís Miguel and Carreira, Isabel Marques and Scholey, Rachel and Wright, Ronnie and Urquhart, Jill E and Briggs, Tracy A and Kerr, Bronwyn and Kingston, Helen and Metcalfe, Kay and Donnai, Dian and Newman, William G and Saraiva, Jorge Manuel and Tassabehji, May
European journal of medical genetics, ISSN 1769-7212, 2015, Volume 58, Issue 9, pp. 455 - 465
Medical Education | Oculoauriculovertebral spectrum | First and second branchial arch | Goldenhar syndrome | Copy number variation | Preauricular tags | Hemifacial microsomia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eye Abnormalities - diagnosis | Ear - abnormalities | Humans | Ear - embryology | Hernia, Diaphragmatic - genetics | Goldenhar Syndrome - genetics | Male | Developmental Disabilities - genetics | Brain - abnormalities | Eye Abnormalities - genetics | Spine - abnormalities | Heart Defects, Congenital - genetics | Comparative Genomic Hybridization | Goldenhar Syndrome - diagnosis | Abnormalities, Multiple - diagnosis | Female | Heart Defects, Congenital - diagnosis | Hernia, Diaphragmatic - diagnosis | Abnormalities, Multiple - genetics | Hospitals | Medical genetics | Index Medicus
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9. Full Text Oculoauriculovertebral spectrum with a full range of severe clinical manifestations – Case report
by Gawrych, Elżbieta and Janiszewska-Olszowska, Joanna and Chojnacka, Hanna
Journal of cranio-maxillo-facial surgery, ISSN 1010-5182, 2011, Volume 42, Issue 8, pp. 2064 - 2068
Surgery | Goldenhar–Gorlin syndrome | Oculoauriculovertebral dysplasia | Mandibular asymmetry | Goldenhar-Gorlin syndrome | Life Sciences & Biomedicine | Dentistry, Oral Surgery & Medicine | Science & Technology | Facial Asymmetry - pathology | Mandible - abnormalities | Nose - abnormalities | Follow-Up Studies | Humans | Eye Neoplasms - pathology | Male | Psychomotor Performance - physiology | Ribs - abnormalities | Dermoid Cyst - pathology | Tracheal Stenosis - pathology | Coloboma - pathology | Thoracic Vertebrae - abnormalities | Cleft Lip - pathology | Goldenhar Syndrome - diagnosis | Cleft Palate - pathology | Fatal Outcome | Infant, Newborn | Medical colleges | Birth defects | Genetic disorders | Index Medicus | Dentistry
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10. Full Text Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients
by Goetze, Thayse Bienert and Sleifer, Pricila and Rosa, Rafael Fabiano Machado and da Silva, Alessandra Pawelec and Graziadio, Carla and Zen, Paulo Ricardo Gazzola
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 309 - 314
Oculoauriculovertebral spectrum | audiology | Goldenhar syndrome | hearing sciences | language | speech | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hearing Loss - diagnosis | Prospective Studies | Humans | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Hearing Loss - genetics | Young Adult | Phenotype | Goldenhar Syndrome - diagnosis | Adolescent | Physical Examination | Adult | Female | Child | Hearing Tests | Medicine, Experimental | Medical research | Speech therapists | Speech therapy | Embryogenesis | Etiology | Ear | Auditory system | Ear canal | Speech | Ears & hearing | Children | Hearing protection | Microtia | Hearing impairment | Hearing loss | Index Medicus
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