Výsledky vyhledávání - "Liesbeth M. Bleeker-Wagemakers"

Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa

Autor: Liesbeth M. Bleeker-Wagemakers, Andreas Gal, Rajendra Kumar-Singh, L. Ingeborgh van den Born, Yun Li, Eberhard Schwinger, Lodewijk A. Sandkuijl, Arthur A.B. Bergen, Paul Kenna, Peter Humphries, G. Jane Farrar

Publikováno v: Genomics, 14(3), 811-812. Academic Press Inc.

Recent evidence suggesting the involvement of mutant rhodopsin proteins in the pathogenesis of autosomal recessive retinitis pigmentosa has prompted us to investigate whether this form of the disease shows non-allelic genetic heterogeneity, as has pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9725e2e071b5929b0cdb38e462cbed27
https://doi.org/10.1016/s0888-7543(05)80195-8

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Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

Autor: M. Neugebauer, Liesbeth M. Bleeker-Wagemakers, Torben A. Kruse, Neil A. Fraser, Ian W. Craig, Andreas Gal, Marco Mächler, Ulrike Orth, Albert Schinzel, Florindo Mollica

Publikováno v: Human Genetics. 81:315-318

Congenital stationary night blindness is characterized by disturbed or absent night vision that is always present at or shortly after birth and nonprogressive. The X-linked form of the disease (CSNBX; McKusick catalog no. 31050) differs from the auto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b864d83581dea4e3befeeffe0d966b8
https://doi.org/10.1007/bf00283682

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Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome

Autor: Jan B. Bijlsma, Henny F. de France, Liesbeth M. Bleeker-Wagemakers, Piet F. Dijkstra

Publikováno v: Human genetics. 40(2)

Double translocation heterozygosity t(2;6),t(7;12) in three generations of a Dutch family is described: the segregation of a double translocation in more than one generation has not been previously published. The index case was a 16-year-old mentally

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae73e150db0515501b9ea9ab52efec2
https://pubmed.ncbi.nlm.nih.gov/624544

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Peters' anomaly and systemic defects

Autor: J. Willem Delleman, Mary J. Van Schooneveld, Frits A. Beemer, Liesbeth M. Bleeker-Wagemakers

Publikováno v: Archives of ophthalmology (Chicago, Ill. : 1960). 104(8)

To the Editor. —With great interest, we read the article of Kivlin et al 1 on a new syndrome, consisting of Peters' anomaly and short-limbed dwarfism. This prompted us to point to the publication in 1984 in which we described 11 patients with simil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a2a2d18385f26d878f6d20c7dfda58b
https://pubmed.ncbi.nlm.nih.gov/3741236

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Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

Autor: Liesbeth M. Bleeker-Wagemakers, Ursula Friedrich, Mette Warburg, Thomas F. Wienker, A. Gal, H. H. Ropers

Publikováno v: Human genetics. 71(3)

Norrie disease (ND) is an X-linked recessive disorder with congenital blindness (atrophia bulborum hereditaria, pseudoglioma). Six kindreds segregating for ND were studied for linkage with polymorphic markers of the human X chromosome. No recombinati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c95367a8b9e4ef809b280293f1fdf2
https://pubmed.ncbi.nlm.nih.gov/2998969

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