Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Helle Strømkjær"'
Autor:
Merete Bugge, Helle Strømkjær, Carsten A. Brandt, Michael B. Petersen, Claus Højbjerg Gravholt, Monna Caprani, U Henriques
Publikováno v:
Scopus-Elsevier
We present an unusual case of trisomy 18 due to a pseudodicentric chromosome 18 of paternal origin. The karyotype was: 46,XY, -18, +psu dic(18)(qter-->cen-->p11.31::p11.31-->psucen-->qter). The origin of the abnormal chromosome was verified by FISH w
Autor:
Birgitte Hertz, Michael B. Petersen, Ulrich König, Peter Jensen, Carsten A. Brandt, Helle Strømkjær, Søren Pedersen
Publikováno v:
Clinical Genetics. 44:89-94
Hertz B, Brandt CA, Petersen MB, Pedersen S, Konig U, Stromkjaer H, Jensen PKA. Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21. Clin Gene
Autor:
Solveig Norheim Andersen, Ole Petter F. Clausen, Torleiv O. Rognum, Helle Strømkjær, Steen Kølvraa, Viggo Nielsen, Lars Bolund
Publikováno v:
Cytometry. 43:46-54
Background DNA aneuploidy has been shown to increase the risk of developing dysplasia in ulcerative colitis (UC) and is related to tumorigenesis in the colorectum. Therefore, it is of particular interest to study genetic aberrations behind DNA aneupl
Autor:
Helle Strømkjær, Lars Bolund, Johnny Hindkjær, Carsten A. Brandt, Hermann-Josef Lüdecke, Ursula Friedrich, Daniel Pinkel, Troels Herlin
Publikováno v:
Brandt, C A, Lüdecke, H J, Hindkjær, J, Strømkjær, H, Pinkel, D, Herlin, T, Bolund, L & Friedrich, U 1997, ' A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region ', Human Genetics, vol. 100, no. 3-4, pp. 334-338 . https://doi.org/10.1007/s004390050512
Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-bandin
Autor:
Michael B. Petersen, J Brinch-Iversen, Helle Strømkjær, Gert Bruun-Petersen, S. Pedersen, Hindkjaer J, B Djernes, Carsten A. Brandt
Publikováno v:
Journal of Medical Genetics. 31:99-102
We report on a newborn white male infant with marked dysmorphic features and various congenital malformations. The initial clinical evaluation showed Crouzon-like features as well as some features of trisomy 18 syndrome and trisomy 13 syndrome. The r
Autor:
Lone Sunde, Steen Kølvraa, Johnny Hindkjær, Carsten A. Brandt, Helle Strømkjær, Søren Pedersen
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology. 50:235-242
To illustrate the advantage of fluorescence in situ hybridization (FISH) in clinical genetics, we have chosen six clinical cases from our routine laboratory where we have used molecular cytogenic techniques to optimise the cytogenetic analysis. Using
Publikováno v:
Hindkjær, J, Brandt, C A, Strømkjær, H, Koch, J, Kølvraa, S & Bolund, L 1996, ' Primed IN Situ labelling (PRINS) as a rational procedure for identification of marker chromosomes using a panel of primers differentially tagging the human chromosomes ', Clinical Genetics, vol. 50, no. 6, pp. 437-441 . https://doi.org/10.1111/j.1399-0004.1996.tb02708.x
PRimed IN Situ labelling (PRINS) is a highly specific and sensitive technique for detecting DNA sequences on human chromosomes in situ. PRINS is currently being introduced for research and routine analysis in clinical and cancer genetics. In this pap