A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

Autor: Susanne Kohl, Ieva Sliesoraityte, Laura Kühlewein, Mary J. van Schooneveld, Bernd Wissinger, Eberhart Zrenner, Alexandra Sauer, Günther Rudolph, Pablo Llavona, Melanie Kempf, Florian A. Dehmelt, Peggy Reuter, Aristides B. Arrenberg, Nicole Weisschuh

Publikováno v: Human Molecular Genetics

Cone dystrophies are a rare subgroup of inherited retinal dystrophies and hallmarked by color vision defects, low or decreasing visual acuity and central vision loss, nystagmus and photophobia. Applying genome-wide linkage analysis and array comparat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2256018fbbd522bbeac2b99dd0facd4e
https://pubmed.ncbi.nlm.nih.gov/33891002

Fetal MRI for prediction of neonatal mortality following preterm premature rupture of the fetal membranes

Autor: Gregor Kasprian, Daniela Prayer, A Messerschmidt, Arnold Pollak, Peter Brugger, Anna Pataraia, Alexandra Sauer, Michael Weber, Hanns Helmer

Publikováno v: Pediatric Radiology. 41:1416-1420

Lung MRI volumetrics may be valuable for fetal assessment following early preterm premature rupture of the foetal membranes (pPROM).To evaluate the predictive value of MRI lung volumetrics after pPROM.Retrospective cohort study of 40 fetuses after pP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd3eddbfec022e8fa20b8a06e2f7efb
https://doi.org/10.1007/s00247-011-2199-8

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Autor: Ulrich Kellner, Bernd Wissinger, Eberhart Zrenner, Hélène Dollfus, Balázs Varsányi, Günter Rudolph, Susanne Kohl, Britta Baumann, John R. Heckenlively, Elfride De Baere, Thomas Rosenberg, Frans P.M. Cremers, Monika Andrassi-Darida, Christiane Wolf, Ditta Zobor, Simone Schaich, Astrid S. Plomp, Roberto Salati, Carel B. Hoyng, Péter Enyedi, Birgit Lorenz, Antje Bernd, Christoph Friedburg, Alexandra Sauer, Michael Bonin, Bart P. Leroy, Herbert Jägle

Publikováno v: Human Mutation, 32, 1398-406
Human Mutation, 32, 12, pp. 1398-406
Human Mutation, 32, 1398-1406. Wiley-Liss Inc.
Human mutation, 32(12), 1398-1406. Wiley-Liss Inc.

Item does not contain fulltext Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations in KCNV2, a gene that encodes a modulatory subunit (Kv8.2) of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df763a80d9dae49ef071fea29be74430
https://hdl.handle.net/2066/98568

EXTRACTS AND KAVALACTONES OF PIPER METHYSTICUM G. FORST (KAVA-KAVA) INHIBIT P-GLYCOPROTEIN IN VITRO

Autor: Alexandra Sauer, A. Frank, Matthias Unger, Johanna Weiss

Publikováno v: Drug Metabolism and Disposition. 33:1580-1583

Root extracts from kava-kava (Piper methysticum G. Forst) are clinically used for the treatment of anxiety and restlessness. Due to reported cases of liver toxicity, kava-kava extracts were withdrawn from the market in several countries in 2002. Beca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9fe89b2e2ecad9a04ee0f144065c533
https://doi.org/10.1124/dmd.105.005892

Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family

Autor: Susanne Kohl, Alexandra Sauer, Vesper Williams, Dianne Sharp, Fulton Wong, Phyllis Summerfelt, Adam M. Dubis, Joseph Carroll, Gerald A. Fishman, Andrea L Vincent

PURPOSE To ascertain the potential pathogenicity of a retinitis pigmentosa (RP)-causing RHO F45L allele in a family affected by congenital achromatopsia (ACHM). METHODS Case series/observational study that included two patients with ACHM and 24 exten

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97d77bb690040d2a91e8a64f6f135f30
https://europepmc.org/articles/PMC3763889/