Zobrazeno 1 - 10
of 43
pro vyhledávání: '"E. Brude"'
Autor:
Joachim Arnemann, U. Beudt, M. Schneider, E. Brude, D. Schäfer, R. Petrusevska, K. Heller, C. Leitner
Publikováno v:
Clinical Genetics. 49:261-266
We here describe a 12-year-old girl with numerous Turner stigmata and virilized external genitalia. Chromosome analysis of PHA stimulated lymphocytes using different banding techniques revealed a 45,X/46,X,+mar Turner mosaicism with the prominent mar
Publikováno v:
Journal of Chemotherapy. 19:554-561
Osteosarcomas (OS) are the most frequent primary malignant bone tumors in humans. Even though OS are chemosensitive, about 30% of patients must be considered poor responders and consequently have a dismal long term prognosis. The Hedgehog (Hh) gene i
Publikováno v:
Der Hautarzt. 51:688-692
A 4 5/12 years old girl with hypomelanosis of Ito (HI) presented on the 3rd day of life with hypopigmented streaks and whorls following the lines of Blaschko on the back, the arms and the legs. In addition, patchy depigmented areas were present on th
Publikováno v:
The Journal of Pathology. 189:623-626
Gonadoblastomas are seen almost exclusively in dysgenetic gonads of patients with a chromosomal mosaicism of 45,X and an additional Y-bearing cell line. This paper presents a case of a Turner mosaic patient with 45,X/46,X,+mar karyotype, who develope
Publikováno v:
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 51(9)
A 4 5/12 years old girl with hypomelanosis of Ito (HI) presented on the 3rd day of life with hypopigmented streaks and whorls following the lines of Blaschko on the back, the arms and the legs. In addition, patchy depigmented areas were present on th
Publikováno v:
The Journal of pathology. 189(4)
Gonadoblastomas are seen almost exclusively in dysgenetic gonads of patients with a chromosomal mosaicism of 45,X and an additional Y-bearing cell line. This paper presents a case of a Turner mosaic patient with 45,X/46,X,+mar karyotype, who develope
Autor:
Heike Starke, E Brude, Monika Ziegler, Uwe Claussen, Beensen, M Harbich, Christine Kähler, Thomas Liehr
Publikováno v:
International journal of molecular medicine. 3(1)
The possibility of distinguishing in routine diagnostics translocation trisomy dup(21q) from disomy 21 as well as from free trisomy 21 using interphase fluorescence in situ hybridization (FISH) with a single copy probe (LSI 21) localized on chromosom
Publikováno v:
16th Congress of the International Society for Forensic Haemogenetics (Internationale Gesellschaft für forensische Hämogenetik e.V.), Santiago de Compostela, 12–16 September 1995 ISBN: 9783540604921
In general in cases of proven paterbnity (p > 99.99%) by analysis of conventional blood groups and the HLA system paternity exclusion by analysis of VNTR or STR-Loci is very rare. We present a case report with PP > 99.99% after analysis of 21 convent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c947e3b947cbd85422437564e0a91b2c
https://doi.org/10.1007/978-3-642-80029-0_88
https://doi.org/10.1007/978-3-642-80029-0_88
Publikováno v:
Human reproduction (Oxford, England). 10(4)
Publikováno v:
Human Reproduction. 10:768-769