SEARCH

SEARCH BY CITATION

References

  • Buckle VJ, Rack K. (1993) Fluorescent in situ hybridisation. In: DaviesKE, editor. Human Genetic Diseases: A Practical Approach. Oxford : IRL Press. p 5980.
  • Cans C, Wilhelm L, Baille M, Du Mazaubrun C, Grandjean H, Rumeau-Rouquette C. (1999) Aetiological findings and associated factors in children with severe mental retardation. Developmental Medicine & Child Neurology 41: 2339.
  • Faivre L, Morichon-Delvallez N, Viot G, Martinovic P, Pinson M, Aubry J, Raclin V, Edery P, Dumez Y, Munnich A, et al. (1999) Prenatal detection of 1p.36 deletion in afoetus with multiple malformations and a re view of the literature. Prenatal Diagnosis 19: 4953.
  • Fifer A, Smith N, Heath M, Gill K, Keen L, Ocraft K. (1997) Prenatal diagnosis and delivery of the short arm of chromosome 1 and confirmation with the subtelomeric probe CEB 10. Journal of Medical Genetics 34: (Suppl.) 48. (Abstract.).
  • Giraudeau F, Auberet D, Young I, Horsley S, Knight S, Kearney L, Vergnaud D, Flint J. (1997) Molecular cytogenetic detection of a deletion of 1p36.3. Journal of Medical Genetics 34: 31431.
  • Keppler-Noreuil K, Carroll A, Finley W, Rutledge S. (1995) Chromosome 1p terminal deletion: report of new findings and confirmation of characteristic phenotypes. Journal of Medical Genetics 32: 61922.
  • Knight S, Horsley S, Regan R, Lawrie N, Maher E, Cardy L, Flint J, Kearney L. (1997) Development and clinical application of an innovative fluorescence in situ hybridisation technique which detects submicroscopic rearrangements involving telomeres. European Journal of Human Genetics 5: 18.
  • Magenis RE, Sheeny R, Lacey D, Brown MG, Litt M. (1987) Small terminal deletion of chromosome 1 short arm in an infant with multiple anomalies: confirmation by in situ hybridisation of probe p1–79. American Journal of Human Genetics 41: (Suppl.) 130. (Abstract.).
  • Murphy C, Yeargin-Allsop M, Decoufle P, Drews C. (1995) The administrative prevalence of mental retardation in 10 year old children in Metropolitan Atlanta 1985 through 1987. American Journal of Public Health 85: 31923.
  • Ohdo S, Sonoda T, Ohba K, Hayakawa K. (1992) Etiologic and pathogenetic study of mental retardation with multiple congenital anomalies. Acta Paediatrica Japan 34: 14450.
  • Reish OK, Berry S, Hirsch B. (1995) Partial monosomy of chromosome 1p36.3. American Journal of Medical Genetics 59: 46775.
  • Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. (1999) Terminal deletion, del (1) (p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. American Journal of Medical Genetics 82: 24953.
  • Sandlin CJ, Dodd BS, Dumars KW, Bartley JA, Bernstein R, Lamb A. (1995) Phenotypes associated with terminal deletion of the short arm of chromosome 1. American Journal of Human Genetics 57: (Suppl.) 125. (Abstract.).
  • Shapira SK, McCarthy C, North H, Spikes AS, Elder FFB, Reid Sutton V, Korenberg JR, Greenberg F, Shaffer LG. (1997) Chromosome 1p.36 deletions: the clinical phenotype and molecular characterisation of a newly delineated syndrome. American Journal of Human Genetics 61: 64250.
  • Slavotinek A, Gaunt L, Donnai D, Clayton-Smith J. (1998) 1p deletion syndrome - report of a case and review. Journal of Medical Genetics 35: (Suppl.) 79. (Abstract.).
  • Slavotinek A, Shaffer L, Shapiro S. (1999). Monosomy 1p36. Journal of Medical Genetics 36: 65763.
  • Wargowski D, Sekhon G, Laxova R, Thompson K, Kent C. (1991) Terminal deletions of band 1p36: emergence of two overlapping phenotypes. American Journal of Human Genetics 49: (Suppl.) 278. (Abstract.).
  • Wu Y, Heilstedt H, Bedell J, May K, Starkey D, McPherson J, Shapira S, Shaffer L. (1999) Molecular refinement of the 1p.36 deletion syndrome reveals size, diversity and a preponderance of maternally derived deletions. Human Molecular Genetics 8: 31321.