Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Human Genetics

• Publication date

  2001-10-26

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00439-001-0626-xPMID 11810276
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Genetic aspects of hemifacial microsomia

  2004cited by this paper
• Initial sequencing and analysis of the human genome

  2001cited by this paper
• Oculoauriculovertebral abnormalities in children of diabetic mothers.

  2000cited by this paper
• Abnormalities at 14q32.1 in T cell malignancies involve two oncogenes.

  1999cited by this paper
• Genomic analysis of human and mouse TCL1 loci reveals a complex of tightly clustered genes.

  1999influential reference
• Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch.

  1999cited by this paper
• Altitude as a risk factor for congenital anomalies.

  1999cited by this paper
• Oculo-auriculo-vertebral spectrum in Klinefelter syndrome.

  1999cited by this paper
• A physical map of 30,000 human genes.

  1998cited by this paper
• Hemifacial microsomia and abnormal chromosome 22.

  1998cited by this paper
• A family with dominant oculoauriculovertebral spectrum.

  1998cited by this paper
• Significance levels in complex inheritance.

  1998cited by this paper
• Position effect in human genetic disease.

  1998cited by this paper
• Identification of two novel human putative serine/threonine kinases, VRK1 and VRK2, with structural similarity to vaccinia virus B1R kinase.

  1997cited by this paper
• Current concepts in the understanding and management of hemifacial microsomia.

  1997cited by this paper
• The Alzheimer family of diseases: many etiologies, one pathogenesis?

  1997cited by this paper
• A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

  1997cited by this paper
• The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression.

  1996cited by this paper
• Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2

  1996cited by this paper
• Genetic dissection of complex traits

  1996influential reference
• Branchio‐oto (BO) syndrome and oculoauriculo‐vertebral phenotype: overlapping clinical findings in a child from a BO family

  1996cited by this paper
• A comprehensive genetic map of the human genome based on 5,264 microsatellites

  1996cited by this paper
• Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death.

  1995cited by this paper
• Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development.

  1995cited by this paper
• Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers.

  1995cited by this paper
• Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.

  1994influential reference
• Identification of the TCL1 gene involved in T-cell malignancies.

  1994cited by this paper
• Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1.

  1994influential reference
• Genetic dissection of complex traits.

  1994cited by this paper
• Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10.

  1994cited by this paper
• Elevated blood pressure and craniofaclal abnormalities in mice deficient in endothelin-1

  1994cited by this paper
• Trisomy 22 and facioauriculovertebral (Goldenhar) sequence.

  1993cited by this paper
• Expression of the mouse goosecoid gene during mid-embryogenesis may mark mesenchymal cell lineages in the developing head, limbs and body wall.

  1993cited by this paper
• A (CA)n repeat polymorphism in the protein C inhibitor (PCI) gene.

  1993influential reference
• Recognition of thalidomide defects.

  1992cited by this paper
• Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13.

  1992influential reference
• Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).

  1988cited by this paper
• Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly.

  1988cited by this paper
• Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: a possible genetic model for hemifacial microsomia.

  1987cited by this paper
• Familial occurrence of malformations possibly attributable to vascular abnormalities.

  1986cited by this paper
• Retinoic acid embryopathy.

  1985cited by this paper
• Analysis of Human Genetic Linkage

  1985cited by this paper
• Hemifacial microsomia and variants: pedigree data.

  1983cited by this paper
• Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome.

  1983cited by this paper
• Hemifacial microsomia in cri du chat (5p-) syndrome.

  1982cited by this paper
• Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia

  1982cited by this paper
• Hemifacial microsomia in cri du chat (5p-) syndrome.

  1982cited by this paper
• Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.

  1981cited by this paper
• Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.

  1980influential reference
• Hemifacial microsomia in a patient with Klinefelter syndrome.

  1980cited by this paper
• Inherited Partial Trisomy 8q (22 → qter)

  1978cited by this paper
• Inherited partial trisomy 8q (22 leads to qter).

  1978cited by this paper
• Hemorrhage in development of the face.

  1975cited by this paper

• Surgical treatment of 89 patients with craniofacial microsomia in a craniofacial national reference centre in Finland.

  2025cites this paper
• Multidisciplinary Treatment of Hemifacial Microsomia: Several Clinical Cases

  2024cites this paper
• A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases.

  2024cites this paper
• The Benefits of CBCT Imaging in the Diagnosis of Individuals with Craniofacial Anomalies

  2023cites this paper
• Focuses, Trends, and Developments in Craniofacial Microsomia From 1992 to 2022: A Bibliometric Analysis

  2023cites this paper
• Auricular fistula: a review of its clinical manifestations, genetics, and treatments

  2023influential citation
• Gene-environment interactions in the pathogenesis of common craniofacial anomalies.

  2023cites this paper
• The etiology, clinical features and treatment options of hemifacial microsomia.

  2023cites this paper
• Risk factors for Microtia and preventive approaches

  2023cites this paper
• Non-progressive mandibular changes in children with Type I and II craniofacial microsomia.

  2023cites this paper
• The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes

  2022cites this paper
• Haploinsufficiency of SF3B2 causes craniofacial microsomia

  2021cites this paper
• Diagnostic challenges in Goldenhar syndrome – a case report

  2021cites this paper
• AN INSIGHT INTO - HEMIFACIAL MICROSOMIA

  2021cites this paper
• GATA3 is essential for separating patterning domains during facial morphogenesis

  2021cites this paper
• Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

  2021cites this paper
• Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

  2021cites this paper
• OCULO‐AURICULO‐VERTEBRAL SPECTRUM

  2020cites this paper
• Three-Dimensional Planning of the Mandibular Margin in Hemifacial Microsomia Using a Printed Patient-Specific Implant.

  2020cites this paper
• Three-Dimensional Planning of the Mandibular Margin in Hemifacial Microsomia Using a Printed Patient-Specific Implant.

  2020cites this paper
• CLASSIFICATION AND MANAGEMENT OF HEMIFACIAL MICROSOMIA: A LITERATURE REVIEW

  2020cites this paper
• Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review

  2020influential citation
• Review of Preferential Suspicious Genes in Microtia Patients Through Various Approaches.

  2020cites this paper
• Three-Dimensional Measurement of Maxillary Involvement in Hemifacial Microsomia in Children.

  2020cites this paper
• Microtia-Associated Syndromes

  2019cites this paper
• Dental anomalies in craniofacial microsomia: A systematic review

  2019cites this paper
• Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities.

  2019cites this paper
• Central nervous system anomalies in craniofacial microsomia: a systematic review.

  2018cites this paper
• Common Syndromes Associated with Pierre Robin Sequence

  2018cites this paper
• Mandibular Distraction for Micrognathia in Neonates

  2018cites this paper
• Etiology and Pathogenesis of Hemifacial Microsomia

  2018cites this paper
• Oculo-auriculo-vertebral spectrum associated to progressive external ophthalmoplegia. Biological, laboratory, electrophysiological and clinical aspects

  2018cites this paper
• Quantitative Evaluation of Cephalometric Radiographs of Patients With Hemifacial Microsomia

  2018cites this paper
• Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.

  2017cites this paper
• An integrated surgical protocol for adult patients with hemifacial microsomia: Methods and outcome

  2017cites this paper
• Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia.

  2017cites this paper
• Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia

  2017influential citation
• Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

  2016cites this paper
• Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

  2016cites this paper
• Genetic Advances in the Understanding of Microtia

  2016cites this paper
• MICROSOMÍA HEMIFACIAL. REVISIÓN DE LA LITERATURA

  2016cites this paper
• Developmental Disorders of the Craniofacial Complex

  2016cites this paper
• Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype

  2016cites this paper
• Craniofacial Microsomia.

  2016cites this paper
• Polymalformative syndrome with congenital heart defect

  2015cites this paper
• Cranial Base Deviation in Hemifacial Microsomia by Craniometric Analysis

  2015cites this paper
• Proliferation and arrest: the genetics of orbital disorders

  2015cites this paper
• Salivary Gland Diseases

  2015cites this paper
• Craniofacial malformations and the orthodontist

  2015cites this paper
• Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

  2015cites this paper
• The A-kinase Anchoring Protein GSKIP Regulates GSK3β Activity and Controls Palatal Shelf Fusion in Mice*

  2015cites this paper
• Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

  2014cites this paper
• OTX2 Duplication Is Implicated in Hemifacial Microsomia

  2014cites this paper
• Clinical Approach to a Suspected Case of First Branchial Arch Syndrome

  2014cites this paper
• Non‐overlapping 22q11.2 microdeletions in patients with oculo‐auriculo‐vertebral spectrum

  2014cites this paper
• Quantification of skeletal asymmetries in normal adolescents: cone-beam computed tomography analysis

  2014cites this paper
• Oculo-Auriculo-Vertebral Spectrum: A Review of the Literature

  2014cites this paper
• Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

  2014cites this paper
• Treatment Strategy in Goldenhar Syndrome

  2014cites this paper
• Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS).

  2014cites this paper
• Maxillary Involvement in Hemifacial Microsomia: An Objective Three-Dimensional Analysis of the Craniofacial Skeleton

  2014cites this paper
• Craniofacial Microsomia Overview

  2014cites this paper
• OTX2 Dosage Sensitivity is Implicated in Hemifacial Microsomia

  2013cites this paper
• Changes of mandibular ramal height, during growth in unilateral hemifacial microsomia patients and unaffected controls.

  2013cites this paper
• Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia

  2013influential citation
• Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

  2013cites this paper
• A de novo 1.38 Mb duplication of 1q31.1 in a boy with hemifacial microsomia, anophthalmia, anotia, macrostomia, and cleft lip and palate.

  2013cites this paper
• SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

  2013cites this paper
• Autism spectrum disorders: The quest for genetic syndromes

  2013cites this paper
• A comprehensive review of the genetic basis of cleft lip and palate

  2012cites this paper
• Thrombophilia gene mutations in oculoauriculovertebral spectrum.

  2012cites this paper
• Oculo-auriculo-vertebral spectrum (OAVS) with large cerebral cyst: affinity to holoprosencephaly.

  2012cites this paper
• Genetic Hearing Loss Associated with Craniofacial Abnormalities

  2012influential citation
• Team management and treatment outcomes for patients with hemifacial microsomia.

  2012cites this paper
• Aspects of Hemifacial Microsomia

  2012influential citation
• Mutational analysis of PACT gene in Chinese patients with microtia

  2011cites this paper
• Voce conhece esta sindrome

  2011cites this paper
• Universidade de São Paulo Hospital de Reabilitação de Anomalias Craniofaciais

  2011cites this paper
• Skeletal and Connective Tissue Disorders with Anterior Segment Manifestations

  2011cites this paper
• Expanded spectrum of oculo–auriculo–vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations

  2011cites this paper
• Hemifacial microsomia: an uncommon craniofacial anomaly—report of two cases from India with review of literature

  2011cites this paper
• Pedigree and Genetic Study of a Bilateral Congenital Microtia Family

  2010cites this paper
• ÜÇ ADET HEMİFASİYAL MİKROSOMİA HASTASI VE LİTERATÜRÜN GÖZDEN GEÇİRİLMESİ

  2010cites this paper
• Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum.

  2010cites this paper
• Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

  2010influential citation
• Dental Development in Hemifacial Microsomia

  2010cites this paper
• Evolving maps in craniofacial development.

  2010cites this paper
• Clinical analysis based on 208 patients with microtia (especially reviewed oculo-auriculo-vertebral spectrum, hearing test, CT scan).

  2010cites this paper
• Spatio‐temporal dynamics of gene expression of the Edn1‐Dlx5/6 pathway during development of the lower jaw

  2010cites this paper
• Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

  2010cites this paper
• Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

  2010cites this paper
• Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum.

  2010cites this paper
• Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1

  2009cites this paper
• Genetics of microtia and associated syndromes

  2009influential citation
• Environmental and Genetic Factors Associated with Congenital Microtia: A Case-Control Study in Jiangsu, China, 2004 to 2007

  2009cites this paper
• Statistical and Methodological Aspects of Oral Health Research

  2009cites this paper
• Analyse de réarrangements génomiques chez des patients atteints d'anomalies du développement embryonnaire : retard mental et malformations multiples congénitales; spectre oculo-auriculo-vertébral

  2009cites this paper
• Syndromes of the first and second pharyngeal arches: A review

  2009cites this paper
• Goldenhar-Syndrom mit Aplasie des rechten oberen und mittleren Lungenlappens

  2008cites this paper
• Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

  2008cites this paper