Zobrazeno 1 - 10
of 39
pro vyhledávání: '"M. Bartsch-Sandhoff"'
Publikováno v:
Human Genetics. 31:59-65
Ein Fall von testicularer Feminisierung wird vorgestellt, der den Karyotyp 47,XXY in allen untersuchten Metaphasen aus Blut- und Hautkulturen hat. Ein solcher Karyotyp legt die Frage nahe, inwieweit sich die Gonosomenkontitution XXY mit dem Syndrom d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f27798efe7a98b3d1d3b46b53526053
https://doi.org/10.1007/bf00270400
https://doi.org/10.1007/bf00270400
Publikováno v:
Human Genetics. 31:263-270
In a patient with a height of 1.46 m, short neck and cubitus valgus the unbalanced karyotype 46,Xdel(X)(p22) was found. The mother of the proband has the balanced karyotype 46,Xt(X;15)(p22;p1). The mother is 1.56 m tall and has a short neck and cubit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15abd07b4aa6f23befb967b516bbeeab
https://doi.org/10.1007/bf00270856
https://doi.org/10.1007/bf00270856
Publikováno v:
Human Genetics. 21:245-253
Bei einem 16jahrigen jungen Mann mit Verdacht auf ein Klinefelter-Syndrom wurde in 390 Mitosen aus Leukocyten-Kulturen ein Karyotyp mit den Gonosomen XX festgestellt. In nur 10 Mitosen konnte zusatzlich zu dem weiblichen Karyotyp ein Fragment gefunde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d96e492229bfb8c87a3f87d75b2e1f1
https://doi.org/10.1007/bf00279019
https://doi.org/10.1007/bf00279019
Publikováno v:
Human genetics. 31(1)
A case of testicular feminization is described, who has the karyotype 47, XXY in all analysed metaphases from blood and skin cultures. The question is discussed whether the karyotype 47, XXY is compatible with the syndrome of testicular feminization
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd49ee6f1e344021891db338b4e89d9c
https://pubmed.ncbi.nlm.nih.gov/1248824
https://pubmed.ncbi.nlm.nih.gov/1248824
Autor:
G. Ciuffa, M. Mikkelsen, P. E. Hollings, Franca Bernardi, M. Ryynänen, L. Zergollern, J. Nilsby, C. Pedersen, D. Francesconi, B. Nicoletti, J. J. P. van de Kamp, J. Salat, H. H. McCreanor, R. H. Lindenbaum, A. Kaakinen, E. Padovani, Orsetta Zuffardi, J. Gueguen, M. Bartsch-Sandhoff, B. Noel, F. J. Hansen, M. Fraccaro, J. Lindsten, A. H. Cameron, A. Aurias, A. Hagemeijer, J. Rotman, E. B. Robson, E. Gärsner, P. Vampirelli, B. Nilsson, H. Von Koskull, L. Iselius, R. H. Smythe, F. Petersen, I. Stabell, Andrea Antonelli, T. W. J. Hustinx, J. M. de Pater, Francesco Pasquali, P. Aula, Malcolm A. Ferguson-Smith, L. F. Buchanan, Joep P.M. Geraedts, A. de la Chapelle, G. Wessner, B. Dutrillaux, G. Dutton, A. D. Bain, Cristina Cuoco, Giorgio Gimelli, J. Lejeune, F. Mitelman, E. Sachs, E. Boyd, C. E. Ford, I. Šubrt
Publikováno v:
Human genetics. 56(1)
Translocation between the long arms of chromosomes 11 and 22 is usually detected in offspring with an unbalanced karyotype following a 3:1 disjunction resulting in “partial trisomy.” Since by the end of 1976 it was suspected that this translocati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8bf71817bf57b3f33074925cdc8bb0b
https://pubmed.ncbi.nlm.nih.gov/7203479
https://pubmed.ncbi.nlm.nih.gov/7203479
Autor:
M, Bartsch-Sandhoff, R, Liersch
Publikováno v:
Annales de genetique. 20(4)
Two sisters with statomotor developmental retardation microcephaly, hydrocephalus internus and externus without signs of pressure, heart defect (ventricular septal defect), early pulmonary resistance and characteristic facial changes were found to ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ea46b6246bc4088c3fd04c165c969cc3
https://pubmed.ncbi.nlm.nih.gov/305758
https://pubmed.ncbi.nlm.nih.gov/305758
Publikováno v:
Humangenetik. 21(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b95aa69f9e27990b891f453f4dfa0235
https://pubmed.ncbi.nlm.nih.gov/4847729
https://pubmed.ncbi.nlm.nih.gov/4847729
Publikováno v:
Deutsche medizinische Wochenschrift (1946). 99(39)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::31075bdbf4c2c12d8588daee45004322
https://pubmed.ncbi.nlm.nih.gov/4422893
https://pubmed.ncbi.nlm.nih.gov/4422893
Publikováno v:
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 28(5)
Case report of a 31 year old male with a 47-XXY-Klinefelter-syndrome which showed a maximum of 4,0 million spermatozoa/ml with a motility of up to 51% in his ejaculate. No rise of spermatozoa counts could be observed after 3x25 mg mesterolone/day ove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d05868058fbf01fdad16bf065e5864c8
https://pubmed.ncbi.nlm.nih.gov/873806
https://pubmed.ncbi.nlm.nih.gov/873806
Publikováno v:
Geburtshilfe und Frauenheilkunde. 49(1)
In a 41-year-old VII-gravida, I-para, the husband's reciprocal translocation of the chromosomes 1 and 18 as well as a partial identity of the marital partner in the HLA-system may have been the underlying causes for five abortions. In the 7th pregnan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cdbbc42a0750f5570754c52a71e6b274
https://pubmed.ncbi.nlm.nih.gov/2917707
https://pubmed.ncbi.nlm.nih.gov/2917707