BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

por Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk
Publicado 2021

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients

por Hjortshøj, Tina Duelund, Grønskov, Karen, Philp, Alisdair R, Nishimura, Darryl Y, Adeyemo, Adebowale, Rotimi, Charles N, Sheffield, Val C, Rosenberg, Thomas, Brøndum-Nielsen, Karen
Publicado 2008

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy

por Jeppesen, Line Dahl, Hjortshøj, Tina Duelund, Hindkjær, Johnny, Hatt, Lotte, Petersen, Olav Bjørn, Singh, Ripudaman, Schelde, Palle, Andreasen, Lotte, Christensen, Rikke, Lildballe, Dorte L., Vogel, Ida
Publicado 2022

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

por Jespersgaard, Cathrine, Hey, Amalie Brunbjerg, Ilginis, Tomas, Hjortshøj, Tina Duelund, Fang, Mingyan, Bertelsen, Mette, Bech, Niels, Jensen, Hanne, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Rosenberg, Thomas, Brøndum-Nielsen, Karen, Møller, Lisbeth Birk, Grønskov, Karen
Publicado 2020

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

por Singh, Ram, Cohen, Ana S.A., Poulton, Cathryn, Hjortshøj, Tina Duelund, Akahira-Azuma, Moe, Mendiratta, Geetu, Khan, Wahab A., Azmanov, Dimitar N., Woodward, Karen J., Kirchhoff, Maria, Shi, Lisong, Edelmann, Lisa, Baynam, Gareth, Scott, Stuart A., Jabs, Ethylin Wang
Publicado 2021

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

por Nazaryan-Petersen, Lusine, Eisfeldt, Jesper, Pettersson, Maria, Lundin, Johanna, Nilsson, Daniel, Wincent, Josephine, Lieden, Agne, Lovmar, Lovisa, Ottosson, Jesper, Gacic, Jelena, Mäkitie, Outi, Nordgren, Ann, Vezzi, Francesco, Wirta, Valtteri, Käller, Max, Hjortshøj, Tina Duelund, Jespersgaard, Cathrine, Houssari, Rayan, Pignata, Laura, Bak, Mads, Tommerup, Niels, Lundberg, Elisabeth Syk, Tümer, Zeynep, Lindstrand, Anna
Publicado 2018