A L Boehmer

Summary

Country: The Netherlands

Publications

  1. ncbi Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability
    A L Boehmer
    Division of Endocrinology, Department of Pediatrics, Sophia Children s Hospital, Rotterdam, The Netherlands
    J Clin Endocrinol Metab 86:1240-6. 2001
  2. ncbi Genotype versus phenotype in families with androgen insensitivity syndrome
    A L Boehmer
    Division of Endocrinology, Department of Pediatrics, Sophia Children s Hospital Rotterdam 3000, The Netherlands
    J Clin Endocrinol Metab 86:4151-60. 2001
  3. ncbi [From gene to disease; androgen receptor gene, androgen insensitivity syndrome, and spinal and bulbar muscle atrophy]
    A L Boehmer
    afd Kindergeneeskunde, subafd Endocrinologie, Erasmus Universitair Medisch Centrum, Rotterdam
    Ned Tijdschr Geneeskd 145:2326-8. 2001
  4. pmc Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation
    H T Brüggenwirth
    Department of Endocrinology and Reproduction, Faculty of Medicine and Health Sciences, Erasmus University Rotterdam, Rotterdam, The Netherlands
    Am J Hum Genet 61:1067-77. 1997
  5. ncbi 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
    A L Boehmer
    Department of Pediatrics, Sophia Children s Hospital, Rotterdam, The Netherlands
    J Clin Endocrinol Metab 84:4713-21. 1999
  6. ncbi Substitution of Ala564 in the first zinc cluster of the deoxyribonucleic acid (DNA)-binding domain of the androgen receptor by Asp, Asn, or Leu exerts differential effects on DNA binding
    H T Brüggenwirth
    Department of Endocrinology and Reproduction, Erasmus University, Rotterdam, The Netherlands
    Endocrinology 139:103-10. 1998
  7. ncbi [Differential diagnosis and treatment of girls with 46XY-karyotype and androgen insensitivity syndrome]
    S L Drop
    afd Kindergeneeskunde, subafd Endocrinologie, Academisch Ziekenhuis Rotterdam Sophia Kinderziekenhuis, Postbus 2060, 3015 GJ Rotterdam
    Ned Tijdschr Geneeskd 145:665-9. 2001
  8. ncbi Etiological studies of severe or familial hypospadias
    A L Boehmer
    Division of Endocrinology, Department of Pediatrics, Sophia Children's Hospital, Rotterdam The Netherlands
    J Urol 165:1246-54. 2001
  9. ncbi Androgen receptor mutations
    A O Brinkmann
    Department of Endocrinology, Erasmus University, Rotterdam, The Netherlands
    J Steroid Biochem Mol Biol 53:443-8. 1995

Collaborators

Detail Information

Publications9

  1. ncbi Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability
    A L Boehmer
    Division of Endocrinology, Department of Pediatrics, Sophia Children s Hospital, Rotterdam, The Netherlands
    J Clin Endocrinol Metab 86:1240-6. 2001
    ..The distinct phenotypic variation in AIS here is explained by differences in the availability of 5alpha-dihydrotestosterone during embryonic sex differentiation...
  2. ncbi Genotype versus phenotype in families with androgen insensitivity syndrome
    A L Boehmer
    Division of Endocrinology, Department of Pediatrics, Sophia Children s Hospital Rotterdam 3000, The Netherlands
    J Clin Endocrinol Metab 86:4151-60. 2001
    ..Wolffian duct remnants remain detectable but differentiation does not occur in the absence of a functional AR. In many CAIS patients, surgical elongation of the vagina is not indicated...
  3. ncbi [From gene to disease; androgen receptor gene, androgen insensitivity syndrome, and spinal and bulbar muscle atrophy]
    A L Boehmer
    afd Kindergeneeskunde, subafd Endocrinologie, Erasmus Universitair Medisch Centrum, Rotterdam
    Ned Tijdschr Geneeskd 145:2326-8. 2001
    ..Molecular testing can be used for carrier detection and genetic counselling...
  4. pmc Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation
    H T Brüggenwirth
    Department of Endocrinology and Reproduction, Faculty of Medicine and Health Sciences, Erasmus University Rotterdam, Rotterdam, The Netherlands
    Am J Hum Genet 61:1067-77. 1997
    ..Translation of the extended transcript resulted in an androgen-receptor protein with 23 amino acid residues inserted between the two zinc clusters, displaying defective DNA binding and defective transcription activation...
  5. ncbi 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
    A L Boehmer
    Department of Pediatrics, Sophia Children s Hospital, Rotterdam, The Netherlands
    J Clin Endocrinol Metab 84:4713-21. 1999
    ..The mutational history of this genetic locus offers views into human diversity and disease, provided by national and international collaboration...
  6. ncbi Substitution of Ala564 in the first zinc cluster of the deoxyribonucleic acid (DNA)-binding domain of the androgen receptor by Asp, Asn, or Leu exerts differential effects on DNA binding
    H T Brüggenwirth
    Department of Endocrinology and Reproduction, Erasmus University, Rotterdam, The Netherlands
    Endocrinology 139:103-10. 1998
    ..The results of the transcription activation and DNA binding studies could partially be predicted from three-dimensional modeling data. The phenotype of the patient was explained by the negative charge, introduced at position 564...
  7. ncbi [Differential diagnosis and treatment of girls with 46XY-karyotype and androgen insensitivity syndrome]
    S L Drop
    afd Kindergeneeskunde, subafd Endocrinologie, Academisch Ziekenhuis Rotterdam Sophia Kinderziekenhuis, Postbus 2060, 3015 GJ Rotterdam
    Ned Tijdschr Geneeskd 145:665-9. 2001
    ..Referral to a centre with experience in the diagnosis and management of disorders of sexual development is advised where the emphasis should be on psychological and genetic counselling...
  8. ncbi Etiological studies of severe or familial hypospadias
    A L Boehmer
    Division of Endocrinology, Department of Pediatrics, Sophia Children's Hospital, Rotterdam The Netherlands
    J Urol 165:1246-54. 2001
    ..This diagnosis has implications for further patient treatment. In addition, familial hypospadias is rarely due to the androgen insensitivity syndrome...
  9. ncbi Androgen receptor mutations
    A O Brinkmann
    Department of Endocrinology, Erasmus University, Rotterdam, The Netherlands
    J Steroid Biochem Mol Biol 53:443-8. 1995
    ..The X-linked spinal and bulbar muscle atrophy (SBMA; Kennedy's disease) is associated with an expanded length (> 40 residues) of one of the polyglutamine stretches in the N-terminal domain of the androgen receptor...