Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test

por Møller, Lisbeth Birk, Horn, Nina
Publicado 2008

Crosstalk of Hedgehog and mTORC1 Pathways

por Larsen, Lasse Jonsgaard, Møller, Lisbeth Birk
Publicado 2020

Splice Site Mutations in the ATP7A Gene

por Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk
Publicado 2011

Impairment of Interrelated Iron- and Copper Homeostatic Mechanisms in Brain Contributes to the Pathogenesis of Neurodegenerative Disorders

por Skjørringe, Tina, Møller, Lisbeth Birk, Moos, Torben
Publicado 2012

Investigation of Parameters that Affect the Success Rate of Microarray-Based Allele-Specific Hybridization Assays

por Poulsen, Lena, Søe, Martin Jensen, Møller, Lisbeth Birk, Dufva, Martin
Publicado 2011

Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC)

por Lenartowicz, Małgorzata, Krzeptowski, Wojciech, Koteja, Paweł, Chrząścik, Katarzyna, Møller, Lisbeth Birk
Publicado 2012

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15

por Møller, Lisbeth Birk, Mogensen, Mie, Weaver, David D., Pedersen, Per Amstrup
Publicado 2021

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort

por Lisbjerg, Kristian, Grønskov, Karen, Bertelsen, Mette, Møller, Lisbeth Birk, Kessel, Line
Publicado 2023

Multi-stringency wash of partially hybridized 60-mer probes reveals that the stringency along the probe decreases with distance from the microarray surface

por Poulsen, Lena, Søe, Martin Jensen, Snakenborg, Detlef, Møller, Lisbeth Birk, Dufva, Martin
Publicado 2008

TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms

por Rosengren, Thomas, Larsen, Lasse Jonsgaard, Pedersen, Lotte Bang, Christensen, Søren Tvorup, Møller, Lisbeth Birk
Publicado 2018

Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia

por Nielsen, Emilie Neerup, Ásbjörnsdóttir, Birna, Møller, Lisbeth Birk, Nielsen, Jørgen Erik, Lindquist, Suzanne Granhøj
Publicado 2022

Mottled Mice and Non-Mammalian Models of Menkes Disease

por Lenartowicz, Małgorzata, Krzeptowski, Wojciech, Lipiński, Paweł, Grzmil, Paweł, Starzyński, Rafał, Pierzchała, Olga, Møller, Lisbeth Birk
Publicado 2015

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

Usher syndrome in Denmark: mutation spectrum and some clinical observations

por Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjærg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne‐Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth Birk
Publicado 2016

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

por Jespersgaard, Cathrine, Bertelsen, Mette, Arif, Farah, Gellert-Kristensen, Helene Gry, Fang, Mingyan, Jensen, Hanne, Rosenberg, Thomas, Tümer, Zeynep, Møller, Lisbeth Birk, Brøndum-Nielsen, Karen, Grønskov, Karen
Publicado 2020

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

por Jespersgaard, Cathrine, Fang, Mingyan, Bertelsen, Mette, Dang, Xiao, Jensen, Hanne, Chen, Yulan, Bech, Niels, Dai, Lanlan, Rosenberg, Thomas, Zhang, Jianguo, Møller, Lisbeth Birk, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen
Publicado 2019

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

por Rosengren, Thomas, Nanhoe, Santoesha, de Almeida, Luis Gustavo Dufner, Schönewolf-Greulich, Bitten, Larsen, Lasse Jonsgaard, Hey, Caroline Amalie Brunbjerg, Dunø, Morten, Ek, Jakob, Risom, Lotte, Nellist, Mark, Møller, Lisbeth Birk
Publicado 2020

Clinical expression of Menkes disease in females with normal karyotype

por Møller, Lisbeth Birk, Lenartowicz, Malgorzata, Zabot, Marie-Therese, Josiane, Arnaud, Burglen, Lydie, Bennett, Chris, Riconda, Daniel, Fisher, Richard, Janssens, Sandra, Mohammed, Shehla, Ausems, Margreet, Tümer, Zeynep, Horn, Nina, Jensen, Thomas G
Publicado 2012

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