Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection
Ørstavik, K.H., Eiklid, K., van der Hagen, C.B., Spetalen, S., Kierulf, K., Skjeldal, O., Buiting, K.
Published in American journal of human genetics (2003)
Published in American journal of human genetics (2003)
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X chromosome inactivation in females with multiple sclerosis
Knudsen, G. P. S., Harbo, H. F., Smestad, C., Celius, E. G., Åkesson, E., Oturai, A., Ryder, L. P., Spurkland, A., Ørstavik, K. H.
Published in European journal of neurology (01.12.2007)
Published in European journal of neurology (01.12.2007)
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Journal Article
Increased skewing of X chromosome inactivation with age in both blood and buccal cells
Knudsen, G.P.S., Pedersen, J., Klingenberg, O., Lygren, I., Ørstavik, K.H.
Published in Cytogenetic and genome research (01.01.2007)
Published in Cytogenetic and genome research (01.01.2007)
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Journal Article
High frequency of skewed X inactivation in young breast cancer patients
Kristiansen, M, Langerød, A, Knudsen, G P, Weber, B L, Børresen-Dale, A-L, Ørstavik, K H
Published in Journal of medical genetics (01.01.2002)
Published in Journal of medical genetics (01.01.2002)
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Journal Article
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations
Grogan, P M, Tanner, S M, Ørstavik, K H, Knudsen, G P S, Saperstein, D S, Vogel, H, Barohn, R J, Herbelin, L L, McVey, A L, Katz, J S
Published in Neurology (10.05.2005)
Published in Neurology (10.05.2005)
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X-inactivation patterns in carriers of X-linked myotubular myopathy
Kristiansen, M, Knudsen, G.P, Tanner, S.M, McEntagart, M, Jungbluth, H, Muntoni, F, Sewry, C, Gallati, S, Ørstavik, K.H, Wallgren-Pettersson, C
Published in Neuromuscular disorders : NMD (01.08.2003)
Published in Neuromuscular disorders : NMD (01.08.2003)
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Journal Article
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
Jungbluth, H, Sewry, C.A, Buj-Bello, A, Kristiansen, M, Ørstavik, K.H, Kelsey, A, Manzur, A.Y, Mercuri, E, Wallgren-Pettersson, C, Muntoni, F
Published in Neuromuscular disorders : NMD (2003)
Published in Neuromuscular disorders : NMD (2003)
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Journal Article
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Raffaele di Barletta, Marina, Ricci, Enzo, Galluzzi, Giuliana, Tonali, Pietro, Mora, Marina, Morandi, Lucia, Romorini, Alessandro, Voit, Thomas, Orstavik, Karen Helene, Merlini, Luciano, Trevisan, Carlo, Biancalana, Valerie, Housmanowa-Petrusewicz, Irena, Bione, Silvia, Ricotti, Roberta, Schwartz, Ketty, Bonne, Giselle, Toniolo, Daniela
Published in American journal of human genetics (01.04.2000)
Published in American journal of human genetics (01.04.2000)
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A homeobox gene, HLXB9 , is the major locus for dominantly inherited sacral agenesis
Strachan, Tom, Ross, Alison J, Ruiz-Perez, Victor, Wang, Yiming, Hagan, Donna-Marie, Scherer, Steve, Lynch, Sally A, Lindsay, Susan, Custard, Emily, Belloni, Elena, Wilson, David I, Wadey, Roy, Goodman, Frances, Orstavik, Karen Helene, Monclair, Tom, Robson, Steve, Reardon, William, Burn, John, Scambler, Pete
Published in Nature genetics (01.12.1998)
Published in Nature genetics (01.12.1998)
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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
Sutcliffe, James S, Nakao, Mitsuyoshi, Christian, Susan, Örstavik, Karen H, Tommerup, Niels, Ledbetter, David H, Beaudet, Arthur L
Published in Nature genetics (01.09.1994)
Published in Nature genetics (01.09.1994)
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Journal Article
The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies
D'Adamo, Patrizia, Fassone, Lucia, Gedeon, Agi, Janssen, Emiel A.M., Bione, Silvia, Bolhuis, Pieter A., Barth, Peter G., Wilson, Meredith, Haan, Eric, Örstavik, Karen Helen, Patton, Michael A., Green, Andrew J., Zammarchi, Enrico, Donati, Maria Alice, Toniolo, Daniela
Published in American journal of human genetics (01.10.1997)
Published in American journal of human genetics (01.10.1997)
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Journal Article
Pigmentary mosaicism in hypomelanosis of Ito further evidence for functional disomy of Xp
FRITZ, B, KÜSTER, W, ØRSTAVIK, K. H, NAUMOVA, A, SPRANGER, J, REHDER, H
Published in Human genetics (01.10.1998)
Published in Human genetics (01.10.1998)
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Journal Article
X-linked genetic factors regulate hematopoietic stem-cell kinetics in females
Christensen, Kaare, Kristiansen, Marianne, Hagen-Larsen, Heidi, Skytthe, Axel, Bathum, Lise, Jeune, Bernard, Andersen-Ranberg, Karen, Vaupel, James W., Ørstavik, Karen Helene
Published in Blood (01.04.2000)
Published in Blood (01.04.2000)
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Journal Article
Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level
Orstavik, K H, Magnus, P, Reisner, H, Berg, K, Graham, J B, Nance, W
Published in American journal of human genetics (01.01.1985)
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Published in American journal of human genetics (01.01.1985)
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