Brüggenwirth HT - Search Results

1

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos-Hesselink JW, Brüggenwirth HT, van de Laar IMBH. van den Bersselaar LM, et al. Among authors: bruggenwirth ht. Genet Med. 2024 Feb;26(2):101024. doi: 10.1016/j.gim.2023.101024. Epub 2023 Dec 11. Genet Med. 2024. PMID: 38085215 Free article. No abstract available.

2

Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome.

Holterhus PM, Brüggenwirth HT, Brinkmann AO, Hiort O. Holterhus PM, et al. Among authors: bruggenwirth ht. Trends Genet. 2001 Nov;17(11):627-8. doi: 10.1016/s0168-9525(01)02485-4. Trends Genet. 2001. PMID: 11672858 No abstract available.

3

A novel AMH missense mutation in a patient with persistent Müllerian duct syndrome.

van der Zwan YG, Brüggenwirth HT, Drop SL, Wolffenbuttel KP, Madern GC, Looijenga LH, Visser JA. van der Zwan YG, et al. Among authors: bruggenwirth ht. Sex Dev. 2012;6(6):279-83. doi: 10.1159/000339704. Epub 2012 Jul 11. Sex Dev. 2012. PMID: 22797409

4

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

5

HLA frequencies and associations in cystic fibrosis.

Adriaanse MP, Vreugdenhil AC, Groeneweg M, Brüggenwirth HT, Castelijns SJ, van der Ent CK, Voorter CE, Tilanus MG. Adriaanse MP, et al. Among authors: bruggenwirth ht. Tissue Antigens. 2014 Jan;83(1):27-31. doi: 10.1111/tan.12265. Tissue Antigens. 2014. PMID: 24355005

6

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, Halley DJ, Wijburg FA. Valstar MJ, et al. Among authors: bruggenwirth ht. J Inherit Metab Dis. 2010 Dec;33(6):759-67. doi: 10.1007/s10545-010-9199-y. Epub 2010 Sep 18. J Inherit Metab Dis. 2010. PMID: 20852935 Free PMC article.

7

Application of the new classification on patients with a disorder of sex development in indonesia.

Juniarto AZ, van der Zwan YG, Santosa A, Hersmus R, de Jong FH, Olmer R, Bruggenwirth HT, Themmen AP, Wolffenbuttel KP, Looijenga LH, Faradz SM, Drop SL. Juniarto AZ, et al. Among authors: bruggenwirth ht. Int J Endocrinol. 2012;2012:237084. doi: 10.1155/2012/237084. Epub 2011 Dec 29. Int J Endocrinol. 2012. PMID: 22253624 Free PMC article.

8

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, Halley DJ, Vos YJ, Hogervorst F, Ligtenberg M, Hofstra RM. van der Hout AH, et al. Hum Mutat. 2006 Jul;27(7):654-66. doi: 10.1002/humu.20340. Hum Mutat. 2006. PMID: 16683254

9

Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth.

Cools M, Hoebeke P, Wolffenbuttel KP, Stoop H, Hersmus R, Barbaro M, Wedell A, Brüggenwirth H, Looijenga LH, Drop SL. Cools M, et al. Eur J Endocrinol. 2012 Feb;166(2):341-9. doi: 10.1530/EJE-11-0392. Epub 2011 Nov 11. Eur J Endocrinol. 2012. PMID: 22080441

10

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.

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