K
Karen Helene Ørstavik
Researcher at University of Oslo
Publications - 92
Citations - 5255
Karen Helene Ørstavik is an academic researcher from University of Oslo. The author has contributed to research in topics: Skewed X-inactivation & X-inactivation. The author has an hindex of 34, co-authored 92 publications receiving 5005 citations. Previous affiliations of Karen Helene Ørstavik include Rikshospitalet–Radiumhospitalet & University of São Paulo.
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Journal ArticleDOI
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
James S. Sutcliffe,Mitsuyoshi Nakao,Susan L. Christian,Karen Helene Ørstavik,Niels Tommerup,David H. Ledbetter,Arthur L. Beaudet +6 more
TL;DR: The authors' data imply the presence of a paternal imprinting control region near exon α of SNRPN, which would imply the molecular basis of Prader-Willi syndrome and Angelman syndrome.
Journal ArticleDOI
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Marina Raffaele di Barletta,Enzo Ricci,Giuliana Galluzzi,Pietro Attilio Tonali,Marina Mora,Lucia Morandi,Alessandro Romorini,Thomas Voit,Karen Helene Ørstavik,Luciano Merlini,Carlo P. Trevisan,Valérie Biancalana,Irena Housmanowa-Petrusewicz,Silvia Bione,Roberta Ricotti,Ketty Schwartz,Giselle Bonne,Daniela Toniolo +17 more
TL;DR: It is reported here that heterozygote mutations in LMNA, the gene for AD-EMD, may cause diverse phenotypes ranging from typical EMD to no phenotypic effect, and shows that LMNA mutations are also responsible for the recessive form of the disease.
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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Stephen P. Robertson,Stephen P. Robertson,Stephen R.F. Twigg,Andrew J. Sutherland-Smith,Valérie Biancalana,Robert J. Gorlin,Denise Horn,Susan Kenwrick,Chong Ae Kim,Eva Morava,Ruth Newbury-Ecob,Karen Helene Ørstavik,Oliver Quarrell,Charles E. Schwartz,Deborah J. Shears,Mohnish Suri,John Kendrick-Jones,Andrew O.M. Wilkie +17 more
TL;DR: The patterns of mutation, X-chromosome inactivation and phenotypic manifestations in the newly described mutations indicate that they have gain-of-function effects, implicating filamin A in signaling pathways that mediate organogenesis in multiple systems during embryonic development.
Journal ArticleDOI
Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection
Karen Helene Ørstavik,Kristin Eiklid,C.B. van der Hagen,S. Spetalen,K. Kierulf,O. Skjeldal,K. Buiting +6 more
TL;DR: ICSI is now regarded as a procedure that is safe overall, and no increase in developmental delay was found in a follow-up of 221 ICSI-conceived children in the 2nd year of life, and the possibility of an increased risk of imprinting defects has been raised.
Journal Article
OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
Stephen P. Robertson,Twigg,Andrew J. Sutherland-Smith,Biancalana,Robert J. Gorlin,Denise Horn,Susan Kenwrick,Ca Kim,Eva Morava,Ruth Newbury-Ecob,Karen Helene Ørstavik,Oliver Quarrell,Charles E. Schwartz,Deborah J. Shears,Mohnish Suri,John Kendrick-Jones,Andrew O.M. Wilkie +16 more