Zobrazeno 1 - 10
of 64
pro vyhledávání: '"I H, Pawlowitzki"'
Publikováno v:
Clinical Genetics. 15:167-170
Trisomy for the long arm of chromosome 20 is described in a severely affected 11-month-old girl. Her mother is heterozygous for a balanced t(16;20) translocation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab310c4575161602df8ddf9da6389eb
https://doi.org/10.1111/j.1399-0004.1979.tb01756.x
https://doi.org/10.1111/j.1399-0004.1979.tb01756.x
Autor:
I. H. Pawlowitzki, B. Wieringa, Frans P.M. Cremers, Wolfgang Berger, E. P. M. van Kerkhoff, F. Brunsmann, T.J.R. van de Pol, H.-H. Ropers
Publikováno v:
Human Genetics. 86:61-64
In order to characterize a previously described submicroscopic deletion encompassing (part of) the choroideremia (tapetochoroidal dystrophy: TCD) gene, we have cloned a 10.5-kb EcoRI fragment from the patient's DNA; this fragment carries the junction
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b87339da369c2db9ba4557a4b53a3d38
https://doi.org/10.1007/bf00205174
https://doi.org/10.1007/bf00205174
Autor:
J A, van den Hurk, M, Schwartz, H, van Bokhoven, T J, van de Pol, L, Bogerd, A J, Pinckers, E M, Bleeker-Wagemakers, I H, Pawlowitzki, K, Rüther, H H, Ropers, F P, Cremers
Publikováno v:
Human mutation. 9(2)
Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5325f095f1f08a480e1143a1f48929c7
https://pubmed.ncbi.nlm.nih.gov/9067750
https://pubmed.ncbi.nlm.nih.gov/9067750
Autor:
P. M. van Zandvoort, I. H. Pawlowitzki, J.A.J.M. van den Hurk, Wolfgang Holzgreve, Frans P.M. Cremers, P. Szabo, B.A. van Oost, F. Brunsmann
Publikováno v:
American journal of medical genetics. 44(6)
We performed prenatal testing to predict the inheritance of choroideremia (CHM) using a linked polymorphic DNA marker, DXS95. DNA analysis of chorionic villi at the 12th week of pregnancy indicated that the allele at risk had not been passed from the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba4df3d4bb28c6d3162d767fcba3982
https://pubmed.ncbi.nlm.nih.gov/1362326
https://pubmed.ncbi.nlm.nih.gov/1362326
Publikováno v:
Archives of Gynecology. 227:47-54
Das Y-Chromosom ist fur die Entstehung von Keimzelltumoren in dysgenetischen Gonaden von entscheidender Bedeutung. Dies druckt sich im hohen Tumorrisiko der XY- und XY/XO-Gonadendysgenesie aus. Hingegen bei fehlendem Y-Chromosom sind Keimzelltumoren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6f4835a8f2e5aca6f0d258571d60f21
https://doi.org/10.1007/bf02108627
https://doi.org/10.1007/bf02108627
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
Autor:
T. F. Wienker, Andreas Gal, K. Rüther, D. Ahlert, F. Brunsmann, D. Hogenkamp, I. H. Pawlowitzki, W. Hammerstein
Publikováno v:
Human Genetics. 73:123-126
Choroideremia is a progressive tapetochoroidal dystrophy with X-linked transmission leading frequently to blindness in affected males. The choroideremia-locus (TCD) has recently been assigned to the long arm of the X chromosome by linkage to polymorp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e840e18b79e0e479078e0829fa0df7e1
https://doi.org/10.1007/bf00291600
https://doi.org/10.1007/bf00291600
Autor:
Mittenburger Hg, Fränz J, H. Frohberg, Okimoto S, I. H. Pawlowitzki, G. Röhrborn, D. Müller, Schencking Ms, A. Grafe, H. Träger, Strasser Ff, Nautsch C
Publikováno v:
Human Genetics. 42:15-25
Cytogenetic investigations in bone marrow from animals treated with isoniazid (INH) were performed in seven different laboratories according to a standard protocol. The experiments were carried out in the Chinese hamster, the mouse, and the rat. In s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e0165509ba9433fbfbda902e70352c
https://doi.org/10.1007/bf00291618
https://doi.org/10.1007/bf00291618
Autor:
I. H. Pawlowitzki, D. Gänshirt
Publikováno v:
Human Genetics. 67:241-244
Hae III restriction patterns are reported in three cases with normal-sized but nonfluorescent Y chromosomes (XO/XYnf mosaics). The 3.4- and 2.1-kb fragment classes of reiterated Y chromosomal DNA were not present in the three cases. Mechanisms leadin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626bd662bf5c473afe335af8f27b48a8
https://doi.org/10.1007/bf00291348
https://doi.org/10.1007/bf00291348
Autor:
Ch. Nautsch, D. Müller, R. Rathenberg, H. Schwegler, I. D. Adler, I. H. Pawlowitzki, Herbert G. Miltenburger, H. Träger, A. Schmaltz
Publikováno v:
Human Genetics. 42:44-49
Acute and chronic treatment of Chinese hamsters and mice with 5, 25 and 125 mg/kg isoniazid (INH) given by oral intubation did not enhance the chromosomal aberration frequencies in spermatogonia. The structural and numerical aberration rates remained
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a73dc9f49fc2646689938b993611d821
https://doi.org/10.1007/bf00291622
https://doi.org/10.1007/bf00291622