Helene Ørstavik, Karen: search on Z-Library

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1

Skewed X inactivation in healthy individuals and in different diseases

Helene Ørstavik, Karen

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 105 KB

english, 2006

2

Skewed X inactivation in healthy individuals and in different diseases

Karen Helene Ørstavik

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

3

Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features-a case of hereditary neuralgic amyotrophy

Kristin Ørstavik, Hans Ro, Karen Helene Ørstavik

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 1.30 MB

english, 1997

4

Studies of human factor IX by a high-titred sheep antiserum against factor IX

Karen Helene Ørstavik, Anne Marie Vennerød, Knut Laake

Journal:

Thrombosis Research

Year:

1977

Language:

english

File:

PDF, 879 KB

english, 1977

5

Purification of human factor IX

Anne Marie Vennerød, Karen Helene Ørstavik, Knut Laake, Magne Fagerhol, Bernt Ly

Journal:

Thrombosis Research

Year:

1977

Language:

english

File:

PDF, 704 KB

english, 1977

6

Electroimmunoassay of factor IX antigen: Increased sensitivity by enzyme amplification of immunoprecipitates

Karen Helene Ørstavik

Journal:

Thrombosis Research

Year:

1979

Language:

english

File:

PDF, 765 KB

english, 1979

7

No Link Between X Chromosome Inactivation Pattern and Simple Goiter in Females: Evidence from a Twin Study

Brix, Thomas Heiberg, Hansen, Pia Skov, Knudsen, Gun Peggy S., Kringen, Marianne K., Kyvik, Kirsten Ohm, Ørstavik, Karen Helene, Hegedüs, Laszlo

Journal:

Year:

2009

Language:

english

File:

PDF, 127 KB

english, 2009

8

Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene?

Fritz, Barbara, Kunz, Jürgen, Knudsen, Gun Peggy Strømstad, Louwen, Frank, Kennerknecht, Ingo, Eiben, Bernd, Ørstavik, Karen Helene, Friedrich, Ursula, Rehder, Helga

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 171 KB

english, 2004

9

X chromosome inactivation in cervical cancer patients

Marianne Kristiansen, Åslaug Helland, Gunnar B Kristensen, Anne O Olsen, Per E Lønning, Anne-Lise Børresen-Dale, Karen Helene Ørstavik

Journal:

Cancer Genetics and Cytogenetics

Year:

2003

Language:

english

File:

PDF, 88 KB

english, 2003

10

Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear

Marianne Kristiansen, Gun Peggy Knudsen, Anne Søyland, Jostein Westvik, Karen Helene Ørstavik

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 232 KB

english, 2002

11

The X Chromosome and the Female Survival Advantage : An Example of the Intersection between Genetics, Epidemiology and Demography

KAARE CHRISTENSEN, KAREN HELENE ØRSTAVIK, JAMES W. VAUPEL

Journal:

Annals of the New York Academy of Sciences

Year:

2001

Language:

english

File:

PDF, 309 KB

english, 2001

12

Antiserum against factor IX shortens the bovine thromboplastin coagulation time of human plasma

Karen Helene Ørstavik, Knut Laake

Journal:

Thrombosis Research

Year:

1978

Language:

english

File:

PDF, 692 KB

english, 1978

13

Comparison of precipitating antisera against normal and abnormal factor IX

Karen Helene Ørstavik

Journal:

Thrombosis Research

Year:

1977

Language:

english

File:

PDF, 632 KB

english, 1977

14

Right-sided microtia and conductive hearing loss with variable expressivity in three generations

Karen Helene Ørstavik, Sverre Medbø, Iain W. S. Mair

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 403 KB

english, 1990

15

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

Ørstavik, Karen Helene, Elise Ørstavik, Ragnhild, Eiklid, Kristin, Tranebjærg, Lisbeth

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 412 KB

english, 1996

16

Homozygous Expression of Haemophilia B in a Heterozygote

Lars Holmberg, Inga Mane Nilsson, Per Henriksson, Karen Helene Ørstavik

Journal:

Journal of Internal Medicine

Year:

1978

Language:

english

File:

PDF, 277 KB

english, 1978

17

Emery-Dreifuss syndrome in three generations of females, including identical twins

Karen Helene Ørstavik, Reidar Kloster, Carl Lippestad, Lars Rode, Torstein Hovig, Kari Nissen Fuglseth

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 326 KB

english, 1990

18

Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons

Mengel-From, Jonas, Thinggaard, Mikael, Christiansen, Lene, Vaupel, James W, Ørstavik, Karen Helene, Christensen, Kaare

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 215 KB

english, 2012

19

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Bramswig, Nuria C., Snape, Katie M., Trembath, Richard, De Sm

Journal:

Year:

2015

Language:

english

File:

PDF, 86 KB

english, 2015

20

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Dagan Jenkins, Dominik Seelow, Fernanda S. Jehee, Chad A. Perlyn, Luís G. Alonso, Daniela F. Bueno, Dian Donnai, Dragana Josifiova, Irene M.J. Mathijssen, Jenny E.V. Morton, Karen Helene Ørstavik, Eli

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 791 KB

english, 2007

21

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation

Karen Helene Ørstavik, Marianne Kristiansen, Gun Peggy Knudsen, Kari Storhaug, Åshild Vege, Kristin Eiklid, Tore G Abrahamsen, Asma Smahi, Jon Steen-Johnsen

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 348 KB

english, 2006

22

Electroimmunoassay of factor IX in hemophilia B

Karen Helene Ørstavik, Bjarne Østerud, Hans Prydz, Kåre Berg

Journal:

Thrombosis Research

Year:

1975

Language:

english

File:

PDF, 691 KB

english, 1975

23

X chromosome inactivation in clinical practice

Karen Helene Ørstavik

Journal:

Year:

2009

Language:

english

File:

PDF, 416 KB

english, 2009

24

Distal phalangeal creases – A distinctive dysmorphic feature in disorders of the RAS signalling pathway?

Karen Helene Ørstavik, Trine Tangeraas, Anders Molven, Trine E. Prescott

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 339 KB

english, 2007

25

A Syndrome of Factor VII Deficiency and Abnormal Platelet Release Reaction

Bernt Ly, Nils Olav Solum, Anne Marie Vennerød, Ove Dahl, Inger Hagen, Karen Helene ØRstavik

Journal:

European Journal of Haematology

Year:

1978

Language:

english

File:

PDF, 520 KB

english, 1978

26

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

Doriana Misceo, Karen Helene Ørstavik, Helle Lybæk, Inger Sandvig, Eli Ormerod, Gunnar Houge, Eirik Frengen

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 178 KB

english, 2009

27

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

Knudsen, Gun Peggy S, Neilson, Tracey C S, Pedersen, June, Kerr, Alison, Schwartz, Marianne, Hulten, Maj, Bailey, Mark E S, Ørstavik, Karen Helene

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 122 KB

english, 2006

28

Enzyme-linked immunosorbent assay (ELISA) for the detection of antibodies to factor IX in hemophilia B

Karen Helene Ørstavik, Ivar Ørstavik

Journal:

Thrombosis Research

Year:

1981

Language:

english

File:

PDF, 344 KB

english, 1981

29

Pigmentary mosaicism in hypomelanosis of Ito

B. Fritz, W. Küster, Karen Helene Ørstavik, Anna Naumova, Jürgen Spranger, Helga Rehder

Journal:

Year:

1998

Language:

english

File:

PDF, 440 KB

english, 1998

30

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene

Karen Helene Ørstavik, Gun Peggy S. Knudsen, Hilde Nordgarden, Eli Ormerod, Petter Strømme, Lazarous P. Lazarou, Lyndon G. Rosser, Trine Prescott, Gunnar Houge

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 158 KB

english, 2007

31

A study of acquired inhibitors of factor IX by means of precipitating rabbit antisera against factor IX

Karen Helene Ørstavik, Inga Marie Nilsson

Journal:

Thrombosis Research

Year:

1978

Language:

english

File:

PDF, 1.63 MB

english, 1978

32

Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice

Renault, Nisa K E, Pritchett, Sonja M, Howell, Robin E, Greer, Wenda L, Sapienza, Carmen, Ørstavik, Karen Helene, Hamilton, David C

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 755 KB

english, 2013

33

X Chromosome Inactivation Pattern is not Associated With Interindividual Variations in Thyroid Volume: A Study of Euthyroid Danish Female Twins

Brix, Thomas Heiberg, Hansen, Pia Skov, Bennedbæk, Finn Noe, Bonnema, Steen Joop, Kyvik, Kirsten Ohm, Ørstavik, Karen Helene, Hegedüs, Laszlo

Journal:

Twin Research and Human Genetics

Year:

2009

Language:

english

File:

PDF, 127 KB

english, 2009

34

X Chromosome Inactivation in Carriers of Barth Syndrome

Karen Helene Ørstavik, Ragnhild E. Ørstavik, Anna K. Naumova, Patrizia D'Adamo, Agi Gedeon, Pieter A. Bolhuis, Peter G. Barth, Daniela Toniolo

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 607 KB

english, 1998

35

Factor IX in warfarin treated patients

Karen Helene Ørstavik, Knut Laake

Journal:

Thrombosis Research

Year:

1978

Language:

english

File:

PDF, 586 KB

english, 1978

36

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Snape, Katie M., Trembath, Richard, De Smedt, Maryse, van der

Journal:

Year:

2015

Language:

english

File:

PDF, 967 KB

english, 2015

37

High Frequency of Skewed X-Chromosome Inactivation in Females with Autoimmune Thyroid Disease: A Possible Explanation for the Female Predisposition to Thyroid Autoimmunity

Brix, Thomas Heiberg, Knudsen, Gun Peggy S., Kristiansen, Marianne, Kyvik, Kirsten Ohm, Ørstavik, Karen Helene, Hegedüs, Laszlo

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2005

Language:

english

File:

PDF, 94 KB

english, 2005

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