Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?

by Zeynep Tümer
Published 2015-01-01

Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions

by Victoria A. Bjerregaard, Bitten Schönewolf-Greulich, Lene Juel Rasmussen, Claus Desler, Zeynep Tümer, Zeynep Tümer
Published 2020-03-01

Splice site mutations in the ATP7A gene.

by Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller
Published 2011-04-01

Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome—Where Are We?

by Amanda M. Levy, Peristera Paschou, Zeynep Tümer
Published 2021-08-01

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of <i>DMPK</i> in Patients with Myotonic Dystrophy Type 1

by Mathis Hildonen, Kirsten Lykke Knak, Morten Dunø, John Vissing, Zeynep Tümer
Published 2020-08-01

A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance

by Christian Grønhøj Larsen, Mette Gyldenløve, Aia Elise Jønch, Birgitte Charabi, Zeynep Tümer
Published 2015-01-01

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays

by Jane H. Frederiksen, Sara B. Jensen, Zeynep Tümer, Thomas v. O. Hansen
Published 2021-08-01

Metaphase FISH on a Chip: Miniaturized Microfluidic Device for Fluorescence in situ Hybridization

by Niels Tommerup, Winnie E. Svendsen, Zeynep Tumer, Maria Dimaki, Pranjul Shah, Indumathi Vedarethinam
Published 2010-11-01

Chromothripsis and DNA Repair Disorders

by Lusine Nazaryan-Petersen, Victoria Alexandra Bjerregaard, Finn Cilius Nielsen, Niels Tommerup, Zeynep Tümer
Published 2020-02-01

A Semi-Closed Device for Chromosome Spreading for Cytogenetic Analysis

by Dorota Kwasny, Olga Mednova, Indumathi Vedarethinam, Maria Dimaki, Asli Silahtaroglu, Zeynep Tümer, Kristoffer Almdal, Winnie E. Svendsen
Published 2014-04-01

Transient p53 Suppression Increases Reprogramming of Human Fibroblasts without Affecting Apoptosis and DNA Damage

by Mikkel A. Rasmussen, Bjørn Holst, Zeynep Tümer, Mads G. Johnsen, Shuling Zhou, Tina C. Stummann, Poul Hyttel, Christian Clausen
Published 2014-09-01

FISHprep: A Novel Integrated Device for Metaphase FISH Sample Preparation

by Asli Silahtaroglu, Maria Dimaki, Lars Andresen, Zeynep Tümer, Søren Skov, Indumathi Vedarethinam, Dorota Kwasny, Winnie E. Svendsen, Pranjul Shah
Published 2011-04-01

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

by Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Published 2021-01-01

Elevated Expression of <i>SLC6A4</i> Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome

by Mathis Hildonen, Amanda M. Levy, Christina Dahl, Victoria A. Bjerregaard, Lisbeth Birk Møller, Per Guldberg, Nanette M. Debes, Zeynep Tümer
Published 2021-01-01

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

by Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Published 2019-12-01

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

by Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Published 2018-12-01

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

by Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Published 2018-08-01

Investigation of SNP rs2060546 immediately upstream to NTN4 in a Danish Gilles de la Tourette syndrome cohort

by Shanmukha Sampath Padmanabhuni, Rayan Houssari, Ann-Louise Esserlind, Jes Olesen, Thomas Werge, Thomas Folkmann Hansen, Birgitte Berterlsen, Fotis Tsetsos, Peristera Paschou, Zeynep Tumer
Published 2016-11-01

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

by Susanne K. Hansen, Helena Borland, Lis F. Hasholt, Zeynep Tümer, Jørgen E. Nielsen, Mikkel A. Rasmussen, Troels T. Nielsen, Tina C. Stummann, Karina Fog, Poul Hyttel
Published 2016-05-01

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

by Susanne K. Hansen, Helena Borland, Lis F. Hasholt, Zeynep Tümer, Jørgen E. Nielsen, Mikkel A. Rasmussen, Troels T. Nielsen, Tina C. Stummann, Karina Fog, Poul Hyttel
Published 2016-05-01