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1

Clinical expression of Menkes disease in females with normal karyotype

Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeyne

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 204 KB

english, 2012

2

Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations

Lisbeth Birk Møller, Peter Ott, Connie Lund, Nina Horn

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 85 KB

english, 2005

3

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A

Zeynep Tümer, Lisbeth Birk Møller, Nina Horn

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 141 KB

english, 2003

4

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

Lisbeth Birk Møller, Jens Thostrup Bukrinsky, Anne Mølgaard, Marianne Paulsen, Connie Lund, Zeynep Tümer, Sine Larsen, Nina Horn

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 541 KB

english, 2005

5

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

Lisbeth Birk Møller, Anders O.H. Nygren, Patrick Scott, Pia Hougaard, Jytte Bieber Nielsen, Caroline Hartmann, Flemming Güttler, Linda Tyfield, Johannes Zschocke

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 58 KB

english, 2007

6

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections

Katharina Diepold, Barbara Schütz, Kevin Rostasy, Bernd Wilken, Pia Hougaard, Flemming Güttler, Anne Romstad, Lisbeth Birk Møller

Journal:

Movement Disorders

Année:

2005

Langue:

english

Fichier:

PDF, 63 KB

english, 2005

7

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

Emmanuel Roze, Marie Vidailhet, Nenad Blau, Lisbeth Birk Moller, Diane Doummar, Thierry Billette de Villemeur, Anne Roubergue

Journal:

Movement Disorders

Année:

2006

Langue:

english

Fichier:

PDF, 96 KB

english, 2006

8

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

Lisbeth Birk Møller, Anne Romstad, Marianne Paulsen, Pia Hougaard, Aida Ormazabal, Mercé Pineda, Nenad Blau, Flemming Güttler, Rafael Artuch

Journal:

Prenatal Diagnosis

Année:

2005

Langue:

english

Fichier:

PDF, 84 KB

english, 2005

9

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication ofMECP2and adjacent loci on Xq28

William Reardon, Veronica Donoghue, Anne-Marie Murphy, Mary D. King, Philip D. Mayne, Nina Horn, Lisbeth Birk Møller

Journal:

European Journal of Pediatrics

Année:

2010

Langue:

english

Fichier:

PDF, 501 KB

english, 2010

10

Clinical presentation and mutations in Danish patients with Wilson disease

Møller, Lisbeth Birk, Horn, Nina, Jeppesen, Tina Dysgaard, Vissing, John, Wibrand, Flemming, Jennum, Poul, Ott, Peter

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 333 KB

english, 2011

11

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

Peter Huppke, Cornelia Brendel, Georg Christoph Korenke, Iris Marquardt, Anthony Donsante, Ling Yi, Julia D. Hicks, Peter J. Steinbach, Callum Wilson, Orly Elpeleg, Lisbeth Birk Møller, John Christodo

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 475 KB

english, 2012

12

Cooperative binding of copper(I) to the metal binding domains in Menkes disease protein

Pia Yvonne Jensen, Nicklas Bonander, Lisbeth Birk Møller, Ole Farver

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Année:

1999

Langue:

english

Fichier:

PDF, 250 KB

english, 1999

13

Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria

H. Serap Kalkanoğlu, Kirsten K. Ahring, Durdu Sertkaya, Lisbeth Birk Møller, Anne Romstad, Ingrid Mikkelsen, Per Guldberg, Hans C. Lou, Flemming Güttler

Journal:

Acta Paediatrica

Année:

2005

Langue:

english

Fichier:

PDF, 72 KB

english, 2005

14

Crystal structure of a copper-transporting PIB-type ATPase

Gourdon, Pontus, Liu, Xiang-Yu, Skjørringe, Tina, Morth, J. Preben, Møller, Lisbeth Birk, Pedersen, Bjørn Panyella, Nissen, Poul

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 2.02 MB

english, 2011

15

Molecular diagnosis of Menkes disease: Genotype–phenotype correlation

Lisbeth Birk Møller, Mie Mogensen, Nina Horn

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 240 KB

english, 2009

16

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single family

Bettina Borm, Lisbeth Birk Møller, Ingrid Hausser, Michael Emeis, Kurt Baerlocher, Nina Horn, Rainer Rossi

Journal:

The Journal of Pediatrics

Année:

2004

Langue:

english

Fichier:

PDF, 584 KB

english, 2004

17

Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex

Lisbeth Birk Møller, Marianne Paulsen, Richard Koch, Rex Moats, Per Guldberg, Flemming Güttler

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 391 KB

english, 2005

18

Characterization of the hCTR1 gene: Genomic organization, functional expression, and identification of a highly homologous processed gene

Lisbeth Birk Møller, Carsten Petersen, Connie Lund, Nina Horn

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 386 KB

english, 2000

19

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

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

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 706 KB

english, 2000

20

Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites

Marianne Paulsen, Connie Lund, Zarqa Akram, Jakob R. Winther, Nina Horn, Lisbeth Birk Møller

Journal:

The American Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2006

21

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

Møller, Lisbeth Birk, Rea, Gillian, Yasmeen, Saiqa, Skjørringe, Tina, Thorborg, Sidsel Salling, Morrison, Patrick J., Donnelly, Deirdre E.

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 183 KB

english, 2013

22

National events

Nasser, Arafat, Møller, Lisbeth Birk

Journal:

Journal of the American Academy of Dermatology

Année:

1980

Langue:

english

Fichier:

PDF, 166 KB

english, 1980

23

Correction

Nasser, Arafat, Møller, Lisbeth Birk

Journal:

Clinical Gastroenterology and Hepatology

Année:

2011

Langue:

english

Fichier:

PDF, 119 KB

english, 2011

24

GCH1 variants, tetrahydrobiopterin and their effects on pain sensitivity

Nasser, Arafat, Møller, Lisbeth Birk

Journal:

Scandinavian Journal of Pain

Année:

2014

Langue:

english

Fichier:

PDF, 702 KB

english, 2014

25

Copper-transporting P-type ATPases use a unique ion-release pathway

Andersson, Magnus, Mattle, Daniel, Sitsel, Oleg, Klymchuk, Tetyana, Nielsen, Anna Marie, Møller, Lisbeth Birk, White, Stephen H, Nissen, Poul, Gourdon, Pontus

Journal:

Nature Structural and Molecular Biology

Année:

2013

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2013

26

Structural models of the human copper P-type ATPases ATP7A and ATP7B

Gourdon, Pontus, Sitsel, Oleg, Karlsen, Jesper Lykkegaard, Møller, Lisbeth Birk, Nissen, Poul

Journal:

Biological Chemistry

Année:

2012

Langue:

english

Fichier:

PDF, 1.60 MB

english, 2012

27

X-Linked Menkes Disease: First Documented Report of Germ-Line Mosaicism

Poulsen, Lena, Møller, Lisbeth Birk, Plunkett, Katie, Belmont, John, Tümer, Zeynep, Horn, Nina

Journal:

Genetic Testing

Année:

2004

Langue:

english

Fichier:

PDF, 110 KB

english, 2004

28

Small amounts of functional ATP7A protein permit mild phenotype

Møller, Lisbeth Birk

Journal:

Journal of Trace Elements in Medicine and Biology

Année:

2015

Langue:

english

Fichier:

PDF, 636 KB

english, 2015

29

Clinical utility gene card for: Phenylketonuria

Zschocke, Johannes, Haverkamp, Thomas, Møller, Lisbeth Birk

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 160 KB

english, 2012

30

A NovelTTBK2De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

Lindquist, Suzanne Granhøj, Møller, Lisbeth Birk, Dali, Christine I, Marner, Lisbeth, Kamsteeg, Erik-Jan, Nielsen, Jørgen Erik, Hjermind, Lena Elisabeth

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 678 KB

english, 2017

31

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

Bayat, Allan, Yasmeen, Saiqa, Lund, Allan, Nielsen, Jytte Bieber, Møller, Lisbeth Birk

Journal:

Clinical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 122 KB

english, 2015

32

Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex

Møller, Lisbeth Birk, Schönewolf-Greulich, Bitten, Rosengren, Thomas, Larsen, Lasse Jonsgaard, Ostergaard, John R., Sommerlund, Mette, Ostenfeldt, Caroline, Stausbøl-Grøn, Brian, Linnet, Karen Markuss

Journal:

Molecular Genetics and Metabolism

Année:

2017

Langue:

english

Fichier:

PDF, 2.77 MB

english, 2017

33

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

Skjørringe, Tina, Amstrup Pedersen, Per, Salling Thorborg, Sidsel, Nissen, Poul, Gourdon, Pontus, Birk Møller, Lisbeth

Journal:

Scientific Reports

Année:

2017

Langue:

english

Fichier:

PDF, 4.82 MB

english, 2017

34

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

Lenartowicz, Małgorzata, Krzeptowski, Wojciech, Koteja, Paweł, Chrząścik, Katarzyna, Møller, Lisbeth Birk, Skoulakis, Efthimios M. C.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 3.63 MB

english, 2012

35

Mottled Mice and Non-Mammalian Models of Menkes Disease

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

Journal:

Frontiers in Molecular Neuroscience

Année:

2015

Langue:

english

Fichier:

PDF, 2.03 MB

english, 2015

36

Splice Site Mutations in the ATP7A Gene

Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk, Cobine, Paul

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 160 KB

english, 2011

37

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

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

Journal:

Cellular and Molecular Life Sciences

Année:

2018

Langue:

english

Fichier:

PDF, 2.31 MB

english, 2018

38

Comparison of two different culture conditions for derivation of early hiPSC

Hey, Caroline Amalie Brunbjerg, Saltoõkova, Katarina Beata, Bisgaard, Hanne Cathrine, Møller, Lisbeth Birk

Journal:

Cell Biology International

Année:

2018

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2018

39

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

Poulsen, Lena, Søe, Martin Jensen, Møller, Lisbeth Birk, Dufva, Martin, Toland, Amanda Ewart

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 818 KB

english, 2011

40

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

Skjørringe, Tina, Møller, Lisbeth Birk, Moos, Torben

Journal:

Frontiers in Pharmacology

Année:

2012

Langue:

english

Fichier:

PDF, 938 KB

english, 2012

41

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

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

Journal:

Stem Cell Research

Année:

2018

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2018

42

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

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

Journal:

Stem Cell Research

Année:

2018

Langue:

english

Fichier:

PDF, 5.11 MB

english, 2018

43

Chelating principles in Menkes and Wilson diseases

Horn, Nina, Møller, Lisbeth Birk, Nurchi, Valeria Marina, Aaseth, Jan

Journal:

Journal of Inorganic Biochemistry

Année:

2018

Langue:

english

Fichier:

PDF, 2.64 MB

english, 2018

44

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

Møller, Lisbeth Birk, Horn, Nina

Journal:

Clinical medicine. Pathology

Année:

2008

Langue:

english

Fichier:

PDF, 828 KB

english, 2008

45

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

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, Brønd

Journal:

Scientific Reports

Année:

2019

Fichier:

PDF, 1.04 MB

2019

46

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

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, Brønd

Journal:

Scientific Reports

Année:

2019

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2019