Parental origin of mutations in sporadic cases of Treacher Collins syndrome
- 26 August 2003
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 11 (9), 718-722
- https://doi.org/10.1038/sj.ejhg.5201029
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacleJournal of Medical Genetics, 2002
- SNP identification, haplotype analysis, and parental origin of mutations in TSC2Human Genetics, 2002
- MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal OriginAmerican Journal of Human Genetics, 2001
- The origins, patterns and implications of human spontaneous mutationNature Reviews Genetics, 2000
- Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the geneHuman Molecular Genetics, 1996
- Exclusive paternal origin of new mutations in Apert syndromeNature Genetics, 1996
- Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndromeNature Genetics, 1996
- Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2BHuman Molecular Genetics, 1995
- Paternal origin of new mutations in Von Recklinghausen neurofibromatosisNature, 1990
- Older paternal age and fresh gene mutation: Data on additional disordersThe Journal of Pediatrics, 1975