Zobrazeno 1 - 4
of 4
pro vyhledávání: '"H T, Brüggenwirth"'
Autor:
Marcel G.J. Tilanus, Christien Voorter, M. Groeneweg, Anita Vreugdenhil, Marlou P. M. Adriaanse, S.J.A.M. Castelijns, C.K. van der Ent, H. T. Brüggenwirth
Publikováno v:
Tissue Antigens. 83:27-31
Cystic fibrosis (CF) is classically attributed to the dysfunction of the single CF transmembrane conductance regulator gene. The incidence of human leukocyte antigen (HLA) polymorphisms in different CF-associated diseases raises the question of an un
Autor:
M P M, Adriaanse, A C E, Vreugdenhil, M, Groeneweg, H T, Brüggenwirth, S J A M, Castelijns, C K, van der Ent, C E M, Voorter, M G J, Tilanus
Publikováno v:
Tissue antigens. 83(1)
Cystic fibrosis (CF) is classically attributed to the dysfunction of the single CF transmembrane conductance regulator gene. The incidence of human leukocyte antigen (HLA) polymorphisms in different CF-associated diseases raises the question of an un
Autor:
Y G, van der Zwan, H T, Brüggenwirth, S L S, Drop, K P, Wolffenbuttel, G C, Madern, L H J, Looijenga, J A, Visser
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 6(6)
Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous misse
Autor:
P M, Holterhus, H T, Brüggenwirth, O, Hiort, A, Kleinkauf-Houcken, K, Kruse, G H, Sinnecker, A O, Brinkmann
Publikováno v:
The Journal of clinical endocrinology and metabolism. 82(11)
Premature stop codons of the human androgen receptor (AR) gene are usually associated with a complete androgen insensitivity syndrome. We, however, identified an adult patient with a 46,XY karyotype carrying a premature stop codon in exon 1 of the AR