H Bikker

Summary

Country: The Netherlands

Publications

  1. ncbi request reprint Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
    H Bikker
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Mutat 6:9-16. 1995
  2. ncbi request reprint Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects
    H Bikker
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital, The Netherlands
    J Clin Endocrinol Metab 82:649-53. 1997
  3. ncbi request reprint Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism
    B Bakker
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital AMC, Division of Pediatric Endocrinology, 1100 DE Amsterdam, The Netherlands
    J Clin Endocrinol Metab 86:1164-8. 2001
  4. ncbi request reprint Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)
    B Bakker
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital AMC, Division of Pediatric Endocrinology, The Netherlands
    J Clin Endocrinol Metab 85:3708-12. 2000
  5. ncbi request reprint Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene
    H Bikker
    Academic Medical Center, University of Amsterdam, The Netherlands
    J Clin Endocrinol Metab 81:2076-9. 1996
  6. ncbi request reprint The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene
    P H Meijerink
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    Eur J Biochem 254:297-303. 1998
  7. ncbi request reprint Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme
    P A Bolhuis
    Academic Medical Center, Department of Neurology, Amsterdam, The Netherlands
    Biochim Biophys Acta 1182:142-6. 1993
  8. ncbi request reprint A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria
    H Bikker
    Laboratory of Genetic Metabolic Diseases and Department of Clinical Genetics Pediatrics Pediatric Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 27:640-3. 2006
  9. ncbi request reprint A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect
    C L Santos
    Thyroid Unit, Division of Endocrinology, University of Sao Paulo Medical School, Sao Paulo, Brazil
    Clin Endocrinol (Oxf) 51:165-72. 1999
  10. ncbi request reprint A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
    H Bikker
    Children s Hospital EKZ, het Kinder AMC, Amsterdam, The Netherlands
    J Clin Endocrinol Metab 79:248-52. 1994

Collaborators

Detail Information

Publications10

  1. ncbi request reprint Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
    H Bikker
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Mutat 6:9-16. 1995
    ..Nine TIOD patients from five families were compound heterozygotes and six patients from four families were homozygous for one of the mentioned mutations in the TPO gene...
  2. ncbi request reprint Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects
    H Bikker
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital, The Netherlands
    J Clin Endocrinol Metab 82:649-53. 1997
    ..The only mutant yielding TPO with enzymatic activity was G 1858 A (Gly 590 Ser). However, the mutation could affect splicing of TPO messenger RNA, leading to inactive TPO, because it is located at the exon 10/intron 10 border...
  3. ncbi request reprint Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism
    B Bakker
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital AMC, Division of Pediatric Endocrinology, 1100 DE Amsterdam, The Netherlands
    J Clin Endocrinol Metab 86:1164-8. 2001
    ..This shows that partial maternal isodisomy for chromosome 2p (2pter - 2p12) is compatible with a minimal influence on normal development...
  4. ncbi request reprint Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)
    B Bakker
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital AMC, Division of Pediatric Endocrinology, The Netherlands
    J Clin Endocrinol Metab 85:3708-12. 2000
    ..Mutations in the TPO gene result in total iodide organification defects...
  5. ncbi request reprint Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene
    H Bikker
    Academic Medical Center, University of Amsterdam, The Netherlands
    J Clin Endocrinol Metab 81:2076-9. 1996
    ..The mutation introduces a premature termination signal in exon 10 of the TPO gene, preventing the synthesis of enzymatic active peroxidase...
  6. ncbi request reprint The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene
    P H Meijerink
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    Eur J Biochem 254:297-303. 1998
    ..Human slap is located in the candidate region for a recessive demyelinating neuropathy on chromosome 8q24, but sequence analysis failed to identify mutations, suggesting that it is not the gene for this disease...
  7. ncbi request reprint Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme
    P A Bolhuis
    Academic Medical Center, Department of Neurology, Amsterdam, The Netherlands
    Biochim Biophys Acta 1182:142-6. 1993
    ..These results show that the patient's is a genetic compound, and that the lability of beta-hexosaminidase found in this form of Sandhoff disease is based on a single nucleotide transition...
  8. ncbi request reprint A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria
    H Bikker
    Laboratory of Genetic Metabolic Diseases and Department of Clinical Genetics Pediatrics Pediatric Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 27:640-3. 2006
    ..This is the first report of methylmalonyl-CoA epimerase deficiency, thereby unequivocally demonstrating the biochemical role of this enzyme in human metabolism...
  9. ncbi request reprint A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect
    C L Santos
    Thyroid Unit, Division of Endocrinology, University of Sao Paulo Medical School, Sao Paulo, Brazil
    Clin Endocrinol (Oxf) 51:165-72. 1999
    ..To screen and subsequently sequence the TPO gene for mutations in patients with congenital goitre, hypothyroidism and evidence for an organification defect (positive perchlorate discharge test)...
  10. ncbi request reprint A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
    H Bikker
    Children s Hospital EKZ, het Kinder AMC, Amsterdam, The Netherlands
    J Clin Endocrinol Metab 79:248-52. 1994
    ..Both parents of the patient are heterozygous for the same duplication, confirming the recessive mode of inheritance of the mutation...