Brüggenwirth H - Search Results

1

Genotype versus phenotype in families with androgen insensitivity syndrome.

Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL. Boehmer AL, et al. Among authors: bruggenwirth h. J Clin Endocrinol Metab. 2001 Sep;86(9):4151-60. doi: 10.1210/jcem.86.9.7825. J Clin Endocrinol Metab. 2001. PMID: 11549642 Free article.

2

Androgen receptor mutations.

Brinkmann AO, Jenster G, Ris-Stalpers C, van der Korput JA, Brüggenwirth HT, Boehmer AL, Trapman J. Brinkmann AO, et al. Among authors: bruggenwirth ht. J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):443-8. doi: 10.1016/0960-0760(95)00090-m. J Steroid Biochem Mol Biol. 1995. PMID: 7626493 Free article. Review.

3

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

de Die-Smulders CE, Höweler CJ, Mirandolle JF, Brunner HG, Hovers V, Brüggenwirth H, Smeets HJ, Geraedts JP. de Die-Smulders CE, et al. Among authors: bruggenwirth h. J Med Genet. 1994 Aug;31(8):595-601. doi: 10.1136/jmg.31.8.595. J Med Genet. 1994. PMID: 7815415 Free PMC article.

4

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

Brunner HG, Brüggenwirth HT, Nillesen W, Jansen G, Hamel BC, Hoppe RL, de Die CE, Höweler CJ, van Oost BA, Wieringa B, et al. Brunner HG, et al. Among authors: bruggenwirth ht. Am J Hum Genet. 1993 Nov;53(5):1016-23. Am J Hum Genet. 1993. PMID: 8213829 Free PMC article.

5

Molecular basis of androgen insensitivity.

Brinkmann A, Jenster G, Ris-Stalpers C, van der Korput H, Brüggenwirth H, Boehmer A, Trapman J. Brinkmann A, et al. Among authors: bruggenwirth h. Steroids. 1996 Apr;61(4):172-5. doi: 10.1016/0039-128x(96)00008-6. Steroids. 1996. PMID: 8732995 Free article. Review.

6

Molecular basis of androgen insensitivity.

Brüggenwirth HT, Boehmer AL, Verleun-Mooijman MC, Hoogenboezem T, Kleijer WJ, Otten BJ, Trapman J, Brinkmann AO. Brüggenwirth HT, et al. J Steroid Biochem Mol Biol. 1996 Aug;58(5-6):569-75. doi: 10.1016/0960-0760(96)00095-7. J Steroid Biochem Mol Biol. 1996. PMID: 8918984

7

Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation.

Brüggenwirth HT, Boehmer AL, Ramnarain S, Verleun-Mooijman MC, Satijn DP, Trapman J, Grootegoed JA, Brinkmann AO. Brüggenwirth HT, et al. Am J Hum Genet. 1997 Nov;61(5):1067-77. doi: 10.1086/301605. Am J Hum Genet. 1997. PMID: 9345099 Free PMC article.

8

Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.

Holterhus PM, Brüggenwirth HT, Hiort O, Kleinkauf-Houcken A, Kruse K, Sinnecker GH, Brinkmann AO. Holterhus PM, et al. Among authors: bruggenwirth ht. J Clin Endocrinol Metab. 1997 Nov;82(11):3584-9. doi: 10.1210/jcem.82.11.4375. J Clin Endocrinol Metab. 1997. PMID: 9360511

9

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.

Brüggenwirth HT, Boehmer AL, Lobaccaro JM, Chiche L, Sultan C, Trapman J, Brinkmann AO. Brüggenwirth HT, et al. Endocrinology. 1998 Jan;139(1):103-10. doi: 10.1210/endo.139.1.5696. Endocrinology. 1998. PMID: 9421404 Free article.

10

Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.

Holterhus PM, Wiebel J, Sinnecker GH, Brüggenwirth HT, Sippell WG, Brinkmann AO, Kruse K, Hiort O. Holterhus PM, et al. Among authors: bruggenwirth ht. Pediatr Res. 1999 Dec;46(6):684-90. doi: 10.1203/00006450-199912000-00009. Pediatr Res. 1999. PMID: 10590024

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