Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.

@article{Yoshiura1998CharacterizationOA,
  title={Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.},
  author={K. Yoshiura and J. Machida and S. Daack-Hirsch and S. Patil and L. Ashworth and J. Hecht and J. Murray},
  journal={Genomics},
  year={1998},
  volume={54 2},
  pages={
          231-40
        }
}
Cleft lip with or without cleft palate is a common birth defect that is genetically complex. The nonsyndromic forms have been studied genetically using linkage and candidate-gene association studies with only partial success in defining the loci responsible for orofacial clefting. Loci for nonsyndromic cases have been suggested on 2p13, 4q31, 6p24, 17q21-q24, and 19q13.2. Recently, we identified a family in which cleft lip and palate segregated in two of three generations with a balanced… Expand
68 Citations
Searching for Genes for Cleft Lip and/or Palate Based on Breakpoint Analysis of a Balanced Translocation t(9;17)(q32;q12)
  • J. Machida, T. Félix, +6 authors T. Ono
  • Biology, Medicine
  • The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
  • 2009
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome
Genetic evidence for the role of loci at 19q13 in cleft lip and palate
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References

SHOWING 1-10 OF 36 REFERENCES
Nonsyndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23.
...
1
2
3
4
...