Affiliation: University Medical Center Nijmegen
Country: The Netherlands
- Familial syndromic esophageal atresia maps to 2p23-p24J Celli
Human Genetics, University Hospital Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands
Am J Hum Genet 66:436-44. 2000..3 cM in the 2p23-p24 region. These results show that haploinsufficiency for a gene or genes in 2p23-p24 is associated with syndromic EA...
- Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli
Department of Human Genetics 417, University Hospital Nijmegen, The Netherlands
Cell 99:143-53. 1999..Transactivation studies with these mutant p63 isotypes provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome...
- Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndromeH van Bokhoven
Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Nat Genet 25:423-6. 2000..The ROR2 mutations present in RRS result in premature stop codons and predict nonfunctional proteins...
- p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven
Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 69:481-92. 2001..There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS...