Carlo L M Marcelis

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. pmc Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
    Marianne Rohrbach
    Division of Metabolism, University Children s Hospital and Children s Research Centre, Zurich, Switzerland
    Orphanet J Rare Dis 6:46. 2011
  2. doi Genotype-phenotype correlations in MYCN-related Feingold syndrome
    Carlo L M Marcelis
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 29:1125-32. 2008
  3. doi Chromosomal anomalies in the etiology of anorectal malformations: a review
    Carlo Marcelis
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 155:2692-704. 2011
  4. doi Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias
    Romy van de Putte
    Department for Health Evidence 133, Radboud University Medical Center, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Eur J Pediatr 174:583-7. 2015
  5. doi Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review
    Charlotte H W Wijers
    Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands
    Birth Defects Res C Embryo Today 102:382-400. 2014
  6. doi No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations
    Charlotte H W Wijers
    Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands
    Birth Defects Res A Clin Mol Teratol 100:483-92. 2014
  7. pmc Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
    Charlotte H W Wijers
    Department of Epidemiology, Biostatistics and HTA 133, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Pediatr Surg Int 26:1093-9. 2010

Collaborators

Detail Information

Publications7

  1. pmc Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
    Marianne Rohrbach
    Division of Metabolism, University Children s Hospital and Children s Research Centre, Zurich, Switzerland
    Orphanet J Rare Dis 6:46. 2011
    ..Severe hypotonia usually leads to delay in gross motor development, whereas cognitive development is reported to be normal...
  2. doi Genotype-phenotype correlations in MYCN-related Feingold syndrome
    Carlo L M Marcelis
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 29:1125-32. 2008
    ..We suggest that the presence of brachymesophalangy and toe syndactyly in combination with microcephaly is enough to justify MYCN analysis...
  3. doi Chromosomal anomalies in the etiology of anorectal malformations: a review
    Carlo Marcelis
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 155:2692-704. 2011
    ..This paper reviews the chromosomal abnormalities described in ARM and may act as a starting point to identify chromosomal regions containing putative anorectal development genes...
  4. doi Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias
    Romy van de Putte
    Department for Health Evidence 133, Radboud University Medical Center, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Eur J Pediatr 174:583-7. 2015
    ..No new potential disease-causing variant was identified. However, we detected a known non-synonymous variant in one patient, which was predicted in silico to be damaging, and the corresponding unaffected amino acid is highly conserved...
  5. doi Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review
    Charlotte H W Wijers
    Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands
    Birth Defects Res C Embryo Today 102:382-400. 2014
    ..Challenges for future studies may also lie in the investigation of gene-gene and gene-environment interactions...
  6. doi No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations
    Charlotte H W Wijers
    Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands
    Birth Defects Res A Clin Mol Teratol 100:483-92. 2014
    ....
  7. pmc Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
    Charlotte H W Wijers
    Department of Epidemiology, Biostatistics and HTA 133, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Pediatr Surg Int 26:1093-9. 2010
    ....