Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex

Autor: Alma Kuechler, Wolfram Klein, Ruth Falb, Tilman Heinrich, Susanne Haen, Amelie J. Müller, Natalia Prodan, Eva M. C. Schwaibold, Andreas Dufke, Marc Sturm, Nina Hirt, Mona Grimmel, Markus Hoopmann, Ulrich Gembruch, Petra Stöbe, Dirk Emmerich, Silke Hartmann, Stephan Waldmüller, Ute Grasshoff, Glen Kristiansen, Olga Kelemen, Armin Neumann, Darja Gauck, Dieter Gläser, Karl Oliver Kagan, Tobias B. Haack, Rebecca Buchert, Stefanie Beck-Wödl, Nicola Dikow, Christoph Schmidt, Ismail Tekesin, Sabine Hentze, Denise Horn, Olaf Riess, Martin Kehrer, Joohyun Park, Stephan Ossowski, Felix Distelmaier, Stephanie Spranger, Reiner Siebert, Luisa Averdunk

Publikováno v: Journal of Medical Genetics. 60:48-56

BackgroundFetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fc67063fced297732b175a2a131ead1
https://doi.org/10.1136/jmedgenet-2021-108064

Is Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?

Autor: Ivonne Alexandra Bedei, Alexander Graf, Karl-Philipp Gloning, Matthias Meyer-Wittkopf, Daria Willner, Martin Krapp, Sabine Hentze, Alexander Scharf, Jan Degenhardt, Kai-Sven Heling, Peter Kozlowski, Kathrin Trautmann, Kai Jahns, Anne Geipel, Ismail Tekesin, Michael Elsässer, Lucas Wilhelm, Ingo Gottschalk, Jan-Erik Baumüller, Cahit Birdir, Felix Zöllner, Aline Wolter, Johanna Schenk, Tascha Gehrke, Corinna Keil, Jimmy Espinosa, Roland Axt-Fliedner

Publikováno v: Journal of Clinical Medicine; Volume 11; Issue 15; Pages: 4588

Mirror syndrome is a rare and serious maternal condition associated with immune and non-immune fetal hydrops after 16 weeks of gestational age. Subjacent conditions associated with fetal hydrops may carry different risks for Mirror syndrome. Fetuses

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd56e9b9c111d4d4eca46c9e6f5b3816
https://doi.org/10.3390/jcm11154588

Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland

Autor: Christine Patch, Sabine Hentze, Eirny Thorolfsdottir, Christophe Cordier, Vigdis Stefansdottir, Álvaro Mendes, Hakon B Hognason, Jon J. Jonsson, Carla G. van El

Publikováno v: Eur J Hum Genet
Stefansdottir, V, Thorolfsdottir, E, Hognason, H B, Patch, C, van El, C, Hentze, S, Cordier, C, Mendes, Á & Jonsson, J J 2020, ' Web-based return of BRCA2 research results : one-year genetic counselling experience in Iceland ', European Journal of Human Genetics, vol. 28, no. 12, pp. 1656-1661 . https://doi.org/10.1038/s41431-020-0665-1
European Journal of Human Genetics, 28(12), 1656-1661. Nature Publishing Group

There is an increased pressure to return results from research studies. In Iceland, deCODE Genetics has emphasised the importance of returning results to research participants, particularly the founder pathogenic BRCA2 variant; NM_000059.3:c.771_775d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d4008b408774d4a1cd3638392368420
https://pubmed.ncbi.nlm.nih.gov/32523053

Familial aortic disease and a large duplication in chromosome 16p13.1

Autor: Philipp, Erhart, Tobias, Brandt, Beate K, Straub, Ingrid, Hausser, Sabine, Hentze, Dittmar, Böckler, Caspar, Grond-Ginsbach

Publikováno v: Molecular Genetics & Genomic Medicine

Background and purpose A recurrent duplication of chromosome 16p13.1 was associated with aortic dissection as well as with cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease. Methods Wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::184e820dd1f046116dcbdd0b7ef34c80
https://pubmed.ncbi.nlm.nih.gov/29441698

Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor gene

Autor: Hans-Ullrich Boll, Christine Haag, Angela Lorenz, Sabine Hentze, Friedhelm Raue, Wolfgang Höppner, Karin Frank-Raue, Dietrich Knorr

Publikováno v: European journal of endocrinology. 150(6)

Resistance to thyroid hormone syndrome (RTH) is a rare disorder, usually inherited as an autosomal dominant trait. Patients with RTH are usually euthyroid but can occasionally present with signs and symptoms of thyrotoxicosis or rarely with hypothyro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaa86f47626781e99df448f664b8c57a
https://pubmed.ncbi.nlm.nih.gov/15191352