A L Boehmer
Country: The Netherlands
- Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availabilityA 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...
- Genotype versus phenotype in families with androgen insensitivity syndromeA 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...
- [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...
- Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutationH 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...
- 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutationsA 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...
- 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 bindingH 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...
- [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...
- Etiological studies of severe or familial hypospadiasA 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...
- Androgen receptor mutationsA 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...