Knappskog, Per : rechercher sur Z-Library

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1

Performance comparison of three BRAF V600E detection methods in malignant melanoma and colorectal cancer specimens

Løes, Inger Marie, Immervoll, Heike, Angelsen, Jon-Helge, Horn, Arild, Geisler, Jürgen, Busch, Christian, Lønning, Per Eystein, Knappskog, Stian

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2015

2

Friedreich ataxia in Norway – an epidemiological, molecular and clinical study

Wedding, Iselin Marie, Kroken, Mette, Henriksen, Sandra Pilar, Selmer, Kaja Kristine, Fiskerstrand, Torunn, Knappskog, Per Morten, Berge, Tone, Tallaksen, Chantal ME

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2015

3

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

Melone, Mariarosa A. B., Pellegrino, Michael J., Nolano, Maria, Habecker, Beth A., Johansson, Stefan, Nathanson, Neil M., Knappskog, Per M., Hahn, Angelika F., Boman, Helge

Journal:

Annals of Clinical and Translational Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 845 KB

english, 2014

4

Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease

Gaare, Johannes J., Nido, Gonzalo S., Sztromwasser, Paweł, Knappskog, Per M., Dahl, Olav, Lund-Johansen, Morten, Maple-Grødem, Jodi, Alves, Guido, Tysnes, Ole-Bjørn, Johansson, Stefan, Haugarvoll, Kri

Journal:

Movement Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 557 KB

english, 2018

5

BRCA1 methylation in newborns: genetic disposition, maternal transfer, environmental influence, or by chance only?

Lønning, Per Eystein, Knappskog, Stian

Journal:

Clinical Epigenetics

Année:

2018

Langue:

english

Fichier:

PDF, 666 KB

english, 2018

6

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme

Hans Geir Eiken, Per M. Knappskog, Jaran Apold, Torgeir Flatmark

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 946 KB

english, 1996

7

DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: Detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations

Hans Geir Eiken, Per M. Knappskog, Per Guldberg, Jaran Apold

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 404 KB

english, 1996

8

PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems

Per M. Knappskog, Hans Geir Eiken, Aurora Martínez, Ove Bruland, Jaran Apold, Torgeir Flatmark

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 1.24 MB

english, 1996

9

Phenylketonuria splice mutation (EXON6nt-96Ag) masquerading as missense mutation (Y204C)

Ståle Ellingsen, Per M. Knappskog, Hans Geir Eiken

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 117 KB

english, 1997

10

A novel type of deletion in the CDKN2A gene identified in a melanoma-prone family

Stian Knappskog, Jürgen Geisler, Thomas Arnesen, Johan R. Lillehaug, Per E. Lønning

Journal:

Genes, Chromosomes and Cancer

Année:

2006

Langue:

english

Fichier:

PDF, 297 KB

english, 2006

11

A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene

Hans Geir Eiken, Per M. Knappskog, Jaran Apold, Leif Skjelkvåle, Helge Boman

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 314 KB

english, 1992

12

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

Irma Dianzani, Per M. Knappskog, Luisa de Sanctis, Sergio Giannattasio, Enrica Riva, Alberto Ponzone, Jaran Apold, Clara Camaschella

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 273 KB

english, 1995

13

Functional properties of missense variants of human tryptophan hydroxylase 2

Jeffrey A. McKinney, Banu Turel, Ingeborg Winge, Per M. Knappskog, Jan Haavik

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 231 KB

english, 2009

14

P21/WAF1 mutation and drug resistance to paclitaxel in locally advanced breast cancer

Ranjan Chrisanthar, Stian Knappskog, Vidar Staalesen, Johan Richard Lillehaug, Per Eystein Lønning

Journal:

International Journal of Cancer

Année:

2007

Langue:

english

Fichier:

PDF, 40 KB

english, 2007

15

Mutations and polymorphisms of the p21B transcript in breast cancer

Stian Knappskog, Ranjan Chrisanthar, Vidar Staalesen, Anne-Lise Børresen-Dale, Inger Torhild Gram, Johan Richard Lillehaug, Per Eystein Lønning

Journal:

International Journal of Cancer

Année:

2007

Langue:

english

Fichier:

PDF, 70 KB

english, 2007

16

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard

Ove Bruland, Elisabeth W Almqvist, Y Paul Goldberg, Helge Boman, Michael R Hayden, Per M Knappskog

Journal:

Clinical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 1.30 MB

english, 1999

17

Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease

Ingeborg Brønstad, Anette SB Wolff, Kristian Løvås, Per M Knappskog, Eystein S Husebye

Journal:

BMC Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 228 KB

english, 2011

18

The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme

Per M. Knappskog, Hans Geir Eiken, Aurora Martinez, Torgeir Flatmark, Jaran Apold

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 346 KB

english, 1995

19

PKU mutations R408Q and F299C in Norway: Haplotype associations, geographic distributions and phenotype characteristics

Hans Geir Eiken, Karin Stangeland, Leif Skjelkvålez, Per M. Knappskog, Helge Boman, Jaran Apold

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 684 KB

english, 1992

20

Chronic mucocutaneous candidiasis and primary hypothyroidism in two families

Anne Grethe Myhre, Asbjørg Stray-Pedersen, Steinar Spangen, Eigill Eide, Dag Veimo, Per Morten Knappskog, Tore G. Abrahamsen, Eystein S. Husebye

Journal:

European Journal of Pediatrics

Année:

2004

Langue:

english

Fichier:

PDF, 232 KB

english, 2004

21

Gene expression profiling of meningiomas: current status after a decade of microarray-based transcriptomic studies

Mads Aarhus, Morten Lund-Johansen, Per Morten Knappskog

Journal:

Acta Neurochirurgica

Année:

2011

Langue:

english

Fichier:

PDF, 451 KB

english, 2011

22

Iron coordination geometry in full-length, truncated, and dehydrated forms of human tyrosine hydroxylase studied by Mössbauer and X-ray absorption spectroscopy

Volker Schünemann, Christian Meier, Wolfram Meyer-Klaucke, Heiner Winkler, Alfred X. Trautwein, Per M. Knappskog, Karen Toska, J. Haavik

Journal:

JBIC Journal of Biological Inorganic Chemistry

Année:

1999

Langue:

english

Fichier:

PDF, 145 KB

english, 1999

23

Alterations of the retinoblastoma gene in metastatic breast cancer

Elisabet Ognedal Berge, Stian Knappskog, Johan Richard Lillehaug, Per Eystein Lønning

Journal:

Clinical and Experimental Metastasis

Année:

2011

Langue:

english

Fichier:

PDF, 241 KB

english, 2011

24

Microarray analysis reveals down-regulation of the tumour suppressor gene WWOX and up-regulation of the oncogene TYMS in intracranial sporadic meningiomas

Mads Aarhus, Ove Bruland, Geir Bredholt, Helle Lybæk, Eystein S. Husebye, Bård K. Krossnes, Christian Vedeler, Knut Wester, Morten Lund-Johansen, Per M. Knappskog

Journal:

Journal of Neuro-Oncology

Année:

2008

Langue:

english

Fichier:

PDF, 506 KB

english, 2008

25

Proteomic profiles differ between bone invasive and noninvasive benign meningiomas of fibrous and meningothelial subtype

Carl Wibom, Lina Mörén, Mads Aarhus, Per Morten Knappskog, Morten Lund-Johansen, Henrik Antti, A Tommy Bergenheim

Journal:

Journal of Neuro-Oncology

Année:

2009

Langue:

english

Fichier:

PDF, 424 KB

english, 2009

26

Different properties of the central and peripheral forms of human tryptophan hydroxylase

Jeffrey McKinney, Per M. Knappskog, Jan Haavik

Journal:

Journal of Neurochemistry

Année:

2005

Langue:

english

Fichier:

PDF, 191 KB

english, 2005

27

Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2

Ingeborg Winge, Jeffrey A. McKinney, Per M. Knappskog, Jan Haavik

Journal:

Journal of Neurochemistry

Année:

2007

Langue:

english

Fichier:

PDF, 731 KB

english, 2007

28

Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria

Elisa Bjørgo, Per M. Knappskog, Aurora Martinez, Raymond C. Stevens, Torgeir Flatmark

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 587 KB

english, 1998

29

Tyrosine hydroxylase binds tetrahydrobiopterin cofactor with negative cooperativity, as shown by kinetic analyses and surface plasmon resonance detection

Torgeir Flatmark, Bjørg Almås, Per M. Knappskog, Sissel V. Berge, Randi M. Svebak, Rosana Chehin, Arturo Muga, Aurora Martínez

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 719 KB

english, 1999

30

Structure/Function Relationships in Human Phenylalanine Hydroxylase : Effect of Terminal Deletions on the Oligomerization, Activation and Cooperativity of Substrate Binding to the Enzyme

Per M. Knappskog, Torgeir Flatmark, Johanna M. Aarden, Jan Haavik, Aurora Martínez

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 1.08 MB

english, 1996

31

A Phenylalanine Hydroxylase Amino Acid Polymorphism with Implications for Molecular Diagnostics

Torben Gjetting, Anne Romstad, Jan Haavik, Per M. Knappskog, Angelina X. Acosta, W.Araújo Silva Jr., Marco A. Zago, Per Guldberg, Flemming Gttler

Journal:

Molecular Genetics and Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 87 KB

english, 2001

32

A Second Decorin Frame Shift Mutation in a Family With Congenital Stromal Corneal Dystrophy

Eyvind Rødahl, Rita Van Ginderdeuren, Per M. Knappskog, Cecilie Bredrup, Helge Boman

Journal:

American Journal of Ophthalmology

Année:

2006

Langue:

english

Fichier:

PDF, 104 KB

english, 2006

33

Epitope mapping of human aromatic l-amino acid decarboxylase

Eirik Bratland, Anette S. Bøe Wolff, Jan Haavik, Olle Kämpe, Filip Sköldberg, Jaakko Perheentupa, Geir Bredholt, Per M. Knappskog, Eystein S. Husebye

Journal:

Biochemical and Biophysical Research Communications

Année:

2007

Langue:

english

Fichier:

PDF, 577 KB

english, 2007

34

SNP285C modulates oestrogen receptor/Sp1 binding to the MDM2 promoter and reduces the risk of endometrial but not prostatic cancer

Stian Knappskog, Jone Trovik, Janusz Marcickiewicz, Solveig Tingulstad, Annetine C. Staff, Pål Romundstad, Kristian Hveem, Lars Vatten, Helga B. Salvesen, Per E. Lønning

Journal:

European Journal of Cancer

Année:

2012

Langue:

english

Fichier:

PDF, 388 KB

english, 2012

35

The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: The major autoantigen in autoimmune Addison's disease

Eirik Bratland, Geir Bredholt, Gunnar Mellgren, Per M. Knappskog, Edna Mozes, Eystein S. Husebye

Journal:

Journal of Autoimmunity

Année:

2009

Langue:

english

Fichier:

PDF, 462 KB

english, 2009

36

Effect of CYP19 rs6493497 and rs7176005 haplotype status on in vivo aromatase transcription, plasma and tissue estrogen levels in postmenopausal women

Anne Hege Straume, Stian Knappskog, Per Eystein Lønning

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Année:

2012

Langue:

english

Fichier:

PDF, 902 KB

english, 2012

37

Expression and purification of human tryptophan hydroxylase from Escherichia coli and Pichia pastoris

Jeffrey McKinney, Per M Knappskog, Jacinto Pereira, Trude Ekern, Karen Toska, Baukje B Kuitert, David Levine, Angela M Gronenborn, Aurora Martinez, Jan Haavik

Journal:

Protein Expression and Purification

Année:

2004

Langue:

english

Fichier:

PDF, 213 KB

english, 2004

38

Recent data on intratumor estrogens in breast cancer

Per E. Lønning, Ben P. Haynes, Anne H. Straume, Anita Dunbier, Hildegunn Helle, Stian Knappskog, Mitch Dowsett

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 272 KB

english, 2011

39

Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase

Heidi Erlandsen, Aurora Martinez, Per M Knappskog, Jan Haavik, Edward Hough, Torgeir Flatmark

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 357 KB

english, 1997

40

Effect of mutations at Cys237 on the activation state and activity of human phenylalanine hydroxylase

Per M. Knappskog, Aurora Martı́nez

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 604 KB

english, 1997

41

Domain structure and stability of human phenylalanine hydroxylase inferred from infrared spectroscopy

Rosana Chehin, Matthias Thorolfsson, Per M Knappskog, Aurora Martinez, Torgeir Flatmark, Jose Luis R Arrondo, Arturo Muga

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 161 KB

english, 1998

42

Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations

Ståle Ellingsen, Per M Knappskog, Jaran Apold, Hans Geir Eiken

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 240 KB

english, 1999

43

Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E. Nilsen, Jorunn S. Bringsli, Jürg Ott, Helge Boman

Journal:

The American Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 466 KB

english, 2003

44

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome

Tord C. Olsen,Hans G. Eiken,Per M. Knappskog,Bengt F. Kase…

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 570 KB

english, 1996

45

Increased NKCC1 expression in arachnoid cysts supports secretory basis for cyst formation

Christian A. Helland, Mads Aarhus, Per Knappskog, Lisa K. Olsson, Morten Lund-Johansen, Mahmood Amiry-Moghaddam, Knut Wester

Journal:

Experimental Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 603 KB

english, 2010

46

Low expression levels of ATM may substitute forCHEK2/TP53mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer

Stian Knappskog, Ranjan Chrisanthar, Erik Løkkevik, Gun Anker, Bjørn Østenstad, Steinar Lundgren, Terje Risberg, Ingvil Mjaaland, Beryl Leirvaag, Hrvoje Miletic, Per E Lønning

Journal:

Breast Cancer Research

Année:

2012

Langue:

english

Fichier:

PDF, 453 KB

english, 2012

47

Chemosensitivity and p53; new tricks by an old dog

Per E Lønning, Stian Knappskog

Journal:

Breast Cancer Research

Année:

2012

Langue:

english

Fichier:

PDF, 89 KB

english, 2012

48

Effect of theMDM2promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer inBRCA1mutation carriers

Merete Bjørnslett, Stian Knappskog, Per Eystein Lønning, Anne Dørum

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 251 KB

english, 2012

49

Inverse correlation betweenPDGFCexpression and lymphocyte infiltration in human papillary thyroid carcinomas

Ove Bruland, Øystein Fluge, Lars A Akslen, Hans G Eiken, Johan R Lillehaug, Jan E Varhaug, Per M Knappskog

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 1.56 MB

english, 2009

50

Identification and characterization of retinoblastoma gene mutations disturbing apoptosis in human breast cancers

Elisabet Ognedal Berge, Stian Knappskog, Stephanie Geisler, Vidar Staalesen, Marec Pacal, Anne-Lise Børresen-Dale, Pål Puntervoll, Johan Richard Lillehaug, Per Eystein Lønning

Journal:

Molecular Cancer

Année:

2010

Langue:

english

Fichier:

PDF, 2.23 MB

english, 2010