Výsledky vyhledávání - "I H, Pawlowitzki"

Trisomy 20q due to maternal t(16;20) translocation First case

Autor: I. H. Pawlowitzki, W. Holzgreve, H. Gröbe

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

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Cloning of the breakpoints of a deletion associated with choroideremia

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

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Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene

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

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Prenatal exclusion of choroideremia

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

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Akademický článek

Genetic mapping of disease genes. Edited by I-H. PAWLOWITZKI, J. H. EDWARDS and E. A. THOMPSON. London: Academic Press. 1997. Pp. 288. £45.00.

Autor: CURTIS, D.

Publikováno v: Annals of Human Genetics; 05/01/1998, Vol. 62 Issue 3, p275-275, 1p

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