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

Human Genetics

Volumn 109, Issue 6, 2001, Pages 638-645

  Kelberman, D ^a   Tyson, J ^a   Chandler, D ^b   McInerney, A ^a   Slee, J ^c   Albert, D ^d   Aymat, A ^d   Botma, M ^d   Calvert, M ^d   Goldblatt, J ^c   Haan, E ^e   Laing, N ^b   Lim, J ^d   Malcolm, S ^a   Singer, S ^f   Winter, R ^a   Bitner Glindzicz, M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b QEII Medical Centre   (Australia)

^c KING EDWARD MEMORIAL HOSPITAL   (Australia)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^f PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BIRTH DEFECT; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CHROMOSOME 14Q; CHROMOSOME 14Q32; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CRANIOFACIAL DEVELOPMENT; CRANIOFACIAL MALFORMATION; DISEASE COURSE; FAMILIAL INCIDENCE; FEMALE; GENE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC MARKER; GENETIC VARIABILITY; GENOME; GOOSECOID GENE; HEMIFACIAL MICROSOMIA; HUMAN; MALE; MALFORMATION SYNDROME; MICROSATELLITE MARKER; MOLECULAR DYNAMICS; PHENOTYPE; PRIORITY JOURNAL; SOUTHERN BLOTTING;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 14; FACIAL ASYMMETRY; FACIAL BONES; FEMALE; GENETIC MARKERS; GENETIC SCREENING; HUMANS; LOD SCORE; MALE; MALOCCLUSION; PEDIGREE; SYNDROME;

EID: 18244364173     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0626-x     Document Type: Article

References (54)

1. A human homologue of the drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
2. Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1
3. Genetic aspects of hemifacial microsomia
4. A (CA)n repeat polymorphism in the protein C inhibitor (PCI) gene
5. Altitude as a risk factor for congenital anomalies
6. Current concepts in the understanding and management of hemifacial microsomia
7. A physical map of 30,000 human genes
8. A comprehensive genetic map of the human genome based on 5,264 microsatellites
9. Oculoauriculovertebral abnormalities in children of diabetic mothers
10. Autosomal dominant aniridia: Probable linkage to acid phosphatase-1 locus on chromosome 2
11. Aniridia 1 update of linkage to ACP
12. Oculo-auriculo-vertebral spectrum in Klinefelter syndrome
13. Survey of trinucleotide repeats in the human genome: Assessment of their utility as genetic markers
14. Expression of the mouse goosecoid gene during mid-embryogenesis may mark mesenchymal cell lineages in the developing head, limbs and body wall
15. Branchial arch and oro-acral disorders
16. Autosomal dominant transmission of a Goldenhar-like syndrome with linkage to the branchial-oto-renal syndrome
17. Chromosome abnormalities associated with facio-auriculo-vertebral spectrum
18. Genomic analysis of human and mouse Tcl1 loci reveals a complex of tightly clustered genes
19. The Alzheimer family of diseases: Many etiologies, one pathogenesis?
20. Hemifacial microsomia and abnormal chromosome 22
21. Multiple congenital abnormalities/mental retardation (mca/mr) syndrome with Goldenhar complex due to a terminal del (22q)
22. Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia
23. Initial sequencing and analysis of the human genome
24. Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: A possible genetic model for hemifacial microsomia
25. Position effect in human genetic disease
26. Trisomy 22 and facioauriculovertebral (goldenhar) sequence
27. Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1
28. Retinoic acid embryopathy
29. Genetic dissection of complex traits
30. The I.M.A.G.E. Consortium: An integrated molecular analysis of genomes and their expression
31. Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13
32. Significance levels in complex inheritance
33. Transgenic mouse model of hemifacial microsomia: Cloning and characterisation of insertional mutation region on chromosome 10
34. Hemifacial microsomia in cri du chat (5p-) syndrome
35. Identification of two novel human putative serine/threonine kinases, VRK1 and VRK2, with structural similarity to vaccinia virus b1R kinase
36. Abnormalities at 14q32.1 in T cell malignancies involve two oncogenes
37. Hemifacial microsomia in a patient with Klinefelter syndrome
38. Hemorrhage in development of the face
39. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia
40. Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development
41. Hemifacial microsomia and variants: Pedigree data
42. Discordance of signs in monozygotic twins concordant for the goldenhar anomaly
43. Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: Overlapping clinical findings in a child from a BO family
44. Familial hemifacial microsomia due to autosomal dominant inheritence. Case reports
45. Recognition of thalidomide defects
46. Familial occurrence of malformations possibly attributable to vascular abnormalities
47. A family with dominant oculoauriculovertebral spectrum
48. Inherited partial trisomy 8q (22 leads to qter)
49. Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch
50. Identification of the TCL1 gene involved in T-cell malignancies
51. Trisomy 9 mosaicism: Another etiology for the manifestations of Goldenhar syndrome
52. Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death
53. Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2