J Celli

Summary

Affiliation: University Medical Center Nijmegen
Country: The Netherlands

Publications

  1. pmc Familial syndromic esophageal atresia maps to 2p23-p24
    J Celli
    Human Genetics, University Hospital Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 66:436-44. 2000
  2. ncbi Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
    J Celli
    Department of Human Genetics 417, University Hospital Nijmegen, The Netherlands
    Cell 99:143-53. 1999
  3. ncbi Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
    H van Bokhoven
    Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Nat Genet 25:423-6. 2000
  4. pmc p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    H van Bokhoven
    Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 69:481-92. 2001

Collaborators

Detail Information

Publications4

  1. pmc Familial syndromic esophageal atresia maps to 2p23-p24
    J 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...
  2. ncbi Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
    J 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...
  3. ncbi Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
    H 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...
  4. pmc p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    H 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...