Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ute Klein-Vogler"'
Autor:
Herbert Enders, Thomas Eggermann, Heidemarie Kendziorra, Peter Kaiser, Ulrike A. Mau, Susanne Mackensen-Haen, Ludger Sieverding, Ute Klein-Vogler
Publikováno v:
Clinical Genetics. 53:293-297
We present an unusual case of monosomy 17p13-pter and monosomy Xp22.2-pter due to a dicentric translocation chromosome X/17 in a female newborn with severe anomalies. The karyotype was identified as 45,X,dic(X;17)(p22.2;p13) by high resolution GTG ba
Autor:
Edward J. Hollox, Ute Klein-Vogler, Thomas Liehr, John A.L. Armour, Annegret Stuke-Sontheimer, John C. K. Barber, Eva Daumiller, Andreas Dufke, Viv K. Maloney, Gabi du Bois
Publikováno v:
European Journal of Human Genetics. 13:1131-1136
It has been proposed that duplications of 8p23.1 are either euchromatic variants of the 8p23.1 defensin domain with no phenotypic consequences or true duplications associated with developmental delay and heart defects. Here, we provide evidence for b
Publikováno v:
Clinical Genetics. 51:275-277
Both double aneuploidy and trisomy 10 are rare chromosome findings. All five published cases of trisomy 10 in liveborns were found to be mosaic with an euploid cell line. In a liveborn female twin, double aneuploidy mosaicism 47,XX, + 10/45,X was det
Autor:
Claudia Backsch, Herbert Enders, Ute Theurer-Mainka, Thomas Eggermann, Ute Klein-Vogler, Peter Kaiser, Eva Rossier
Publikováno v:
American Journal of Medical Genetics. 75:530-533
Tetrasomy 9p is a rare chromosomal aberration that was described in 28 previous patients. Here we report on a newborn girl who was referred for genetic evaluation because of developmental delay, hypertonicity, microcephaly, minor anomalies, and neuro
Autor:
Gerhard Niemann, André Reis, Ute Klein-Vogler, Herbert Enders, Ladislaus Ladanyi, Jürgen Kunze
Publikováno v:
The Lancet. 341:122-123
Autor:
Ute Klein-Vogler, Walter Haberlandt
Publikováno v:
Monatsschrift für Kriminologie und Strafrechtsreform. 57:329-337