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

Por Tümer, Zeynep
Publicado no Case Rep Neurol Med (2015)

Clinical utility gene card for: Menkes disease

Por Tümer, Zeynep, Klomp, Leo
Publicado em 2011

Menkes disease

Por Tümer, Zeynep, Møller, Lisbeth B
Publicado em 2010

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Por Tümer, Zeynep, Bach-Holm, Daniella
Publicado em 2009

Three New Loci for Determining X Chromosome Inactivation Patterns

Por Bertelsen, Birgitte, Tümer, Zeynep, Ravn, Kirstine
Publicado em 2011

Splice Site Mutations in the ATP7A Gene

Por Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk
Publicado em 2011

Clinical utility gene card for: Axenfeld–Rieger syndrome

Por Weisschuh, Nicole, De Baere, Elfride, Wissinger, Bernd, Tümer, Zeynep
Publicado em 2011

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

Por Grønhøj Larsen, Christian, Gyldenløve, Mette, Jønch, Aia Elise, Charabi, Birgitte, Tümer, Zeynep
Publicado no Case Rep Otolaryngol (2015)

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

Por Vedarethinam, Indumathi, Shah, Pranjul, Dimaki, Maria, Tumer, Zeynep, Tommerup, Niels, Svendsen, Winnie E.
Publicado em 2010

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function

Por Roos, Laura, Bertelsen, Birgitte, Harris, Pernille, Bygum, Anette, Jensen, Hanne, Grønskov, Karen, Tümer, Zeynep
Publicado no BMC Med Genet (2015)

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor devel...

Por Jespersgaard, Cathrine, Damgaard, Ida N., Cornelius, Nanna, Bache, Iben, Knabe, Niels, Miranda, Maria J., Tümer, Zeynep
Publicado no Mol Cytogenet (2016)

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome

Por Boonen, Susanne E, Hahnemann, Johanne M D, Mackay, Deborah, Tommerup, Niels, Brøndum-Nielsen, Karen, Tümer, Zeynep, Grønskov, Karen
Publicado em 2012

Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)

Por Tommerup Niels, Petersen Michael B, Werdelin Lene, Panas Marios, Gredal Ole, Brondum-Nielsen Karen, Silahtaroglu Asli N, Tümer Zeynep
Publicado em 2002-04-01

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)

Por Silahtaroglu, Asli N, Brondum-Nielsen, Karen, Gredal, Ole, Werdelin, Lene, Panas, Marios, Petersen, Michael B, Tommerup, Niels, Tümer, Zeynep
Publicado em 2002

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

Por Ravn, Kirstine, Roende, Gitte, Duno, Morten, Fuglsang, Kathrine, Eiklid, Kristin L, Tümer, Zeynep, Nielsen, Jytte B, Skjeldal, Ola H
Publicado em 2011

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

Por Rasmussen, Mikkel A., Holst, Bjørn, Tümer, Zeynep, Johnsen, Mads G., Zhou, Shuling, Stummann, Tina C., Hyttel, Poul, Clausen, Christian
Publicado no Stem Cell Reports (2014)

Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis

Por Jennum, Poul J., Kornum, Birgitte R., Issa, Nadia M., Gammeltoft, Steen, Tommerup, Niels, Morling, Niels, Tümer, Zeynep, Knudsen, Stine
Publicado no Neurol Neuroimmunol Neuroinflamm (2016)

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Por Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, Seidel, Jürg, Jensen, Lars Riff, Horn, Nina
Publicado em 2000

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

Por Eggermann, Thomas, Netchine, Irène, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R
Publicado no Clin Epigenetics (2015)

Investigation of SNP rs2060546 Immediately Upstream to NTN4 in a Danish Gilles de la Tourette Syndrome Cohort

Por Padmanabhuni, Shanmukha S., Houssari, Rayan, Esserlind, Ann-Louise, Olesen, Jes, Werge, Thomas M., Hansen, Thomas F., Bertelsen, Birgitte, Tsetsos, Fotis, Paschou, Peristera, Tümer, Zeynep
Publicado no Front Neurosci (2016)