Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Bente Beck"'
Autor:
K. Brøndum-Nielsen, Bente Beck, Jolanda Gyftodimou, Henning Hørlyk, Ulf Liljenberg, Minna Bloch Petersen, Winni Pedersen, Michael B. Petersen, Annie Sand, Flemming Skovby, Gerd Stafanger, P. Zetterqvist, Niels Tommerup
Publikováno v:
Human Genetics. 99:56-61
Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybrid
Publikováno v:
Ugeskrift for laeger. 165(1)
In the County of Copenhagen the treatment of mentally retarded (MR) children is centralised in the Center for Handicapped (CFH). The aim of this study was to elucidate whether the frequency of MR is higher in children from ethnic minorities than in t
Publikováno v:
Acta Paediatrica. 69:797-801
Beck, B., Friis, B., Heilmann, C., Pedersen, F. K. and Valerius, N. H. (University Clinic of Paediatrics, Children's Hospital, Fuglebakken, University Clinic of Infectious Diseases and University Clinic of Paediatrics, Department G, Rigshospitalet an
Autor:
Bente Beck
Publikováno v:
International Journal of Andrology. 3:349-362
The effect of androgens on phospholipase A in the rat epididymis, liver, heart, kidney, prostate and epididymal fat pad has been investigated both in the cytosol and in a postmitochondrial partiulate cell fraction. In both cell fractions, phospholipa
Autor:
Bente Beck
Publikováno v:
Acta Paediatrica. 65:631-638
A prevalence investigation of Cornelia de Lange's syndrome in Denmark is presented. The patients were traced by screening all institutional mentally retarded patients, patients in schools and kindergartens for imbecile patients and finally by getting
Autor:
Bente Beck, Margareta Mikkelsen
Publikováno v:
Human Genetics. 59:271-276
This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases of the Cornelia de Lange syndrome clinically examined by one of us (B.B.) and chromosomally studied
Publikováno v:
Acta Paediatrica. 71:121-124
Schiotz, P.O., Beck, B. and Pedersen, M. (Paediatric Department TG, Rigshospitalet, Copenhagen, Denmark). How to evaluate clinical parameters at a glance. Acta Paediatr Scand 1982; suppl 301: 121-124. — A brief introduction is given to the practica
Autor:
Bente Beck
Publikováno v:
Acta Paediatrica. 63:225-231
Beck, B. (Paediatric Department TG, Rigshospitalet, Copenhagen, Denmark). Familial occurrence of Cornelia de Lange's syndrome. Acta Paediat Sand, 63:225, 1974.–A family is presented in which two sibs, brother and sister, exhibit Cornelia de Lange's
Autor:
Bente Beck, J. Chemnitz, Henning K. Poulsen, Jes G. Westergaard, J. G. Grudzinskas, L. Ipsen, Børge Teisner
Publikováno v:
Prenatal diagnosis. 3(3)
The concentration of human placental lactogen (hPL), pregnancy specific beta-1 glycoprotein (SP-1) and pregnancy-associated plasma protein A (PAPP-A) were analysed in consecutive serum samples from a patient who gave birth to a child with Cornelia de
Autor:
Hanne Poulsen, Niels Tommerup, Karen Brøndum Nielsen, Petrea Jacobsen, Bente Beck, Margareta Mikkelsen
Publikováno v:
ResearcherID
Cytogenetic investigations by three different lymphocyte culture methods in 63 obligate and potential carriers of the fragile X [fra(X)] are reported. A difference was observed between normal and retarded carriers in the manifestation of the fra(X).