Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Neophytos Apeshiotis"'
Autor:
Gabriela Salinas, Silke Pauli, Holger Thiele, Janine Altmüller, Katharina Till, Roser Ufartes, Hanna Berger, Hendrik Langen, Neophytos Apeshiotis, Marc Sturm, Rudolf Funke, Peter Nürnberg, Annette Borchers, Bernd Wollnik
Publikováno v:
Human Genetics
We report truncating de novo variants in specific exons of FBRSL1 in three unrelated children with an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other mal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::231f9791ce7704b3338be5cf08aa0710
http://edoc.mdc-berlin.de/20554/7/20554suppl.zip
http://edoc.mdc-berlin.de/20554/7/20554suppl.zip
Autor:
Gökhan Uyanik, Udo Koehler, Richard H Scott, Nicolas Chassaing, Birgit Zirn, Neophytos Apeshiotis, Marisol Heise, Bettina Chilian, Ute Grasshoff, Gudrun A. Rappold, Bertrand Isidor, Ute Moog, Tatjana Bierhals, Gregor Schlüter, Christine Coubes, Hilde Van Esch, Stefanie Balg, Kerstin Kutsche, Barbara Oehl-Jaschkowitz, Hartmut Engels, William B. Dobyns, Joanna Jarvis, Eva Wohlleber, Günther Rettenberger, Isabella Rau, Soma Das, Els Ortibus, Moonef Shoukier, Thomas Martin, Prab Prabhakar, Fanny Kortüm, Daniela T. Pilz
Publikováno v:
Journal of Medical Genetics. 48:741-751
Background Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia. Methods The study characterised the C
Autor:
Gert Matthijs, Kristen Hanson, Craig R. Adamski, Christian Körner, Georg F. Hoffmann, Nina Rind, Rhonda Scanlon, Neophytos Apeshiotis, Diana Popovici, Charlotte Thiels, Marie Lambert, Robert L. Conway, Christian Thiel, Elizabeth Butler
Publikováno v:
Human Mutation. 33:485-487
Congenital disorders of glycosylation (CDG) comprise a clinically and biochemically heterogeneous group of monogenetic-inherited, multisystemic diseases that affect the biosynthesis of N- and/or O-glycans linked to glycoconjugates. Recently, we ident
Autor:
Christian Thiel, Julia Hocks, Jürgen Lübbehusen, Ekkehard Wilichowski, Ludwig Lehle, Birgit Absmanner, Christian Körner, Verena Schmeiser, Nina Rind, Neophytos Apeshiotis
Publikováno v:
Human molecular genetics. 19(8)
A new type of congenital disorders of glycosylation, designated CDG-Ip, is caused by the deficiency of GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase, encoded by the human ortholog of ALG11 from yeast. The patient presented with a multi