Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Jostein Westvik"'
Autor:
Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150555 (2016)
Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a
Externí odkaz:
https://doaj.org/article/b6da7a20f1984f7b853b2aabf45cb344
Autor:
Olaug K. Rødningen, Lisa R. Forbes, Hanne Sørmo Sorte, I. Celine Hanson, Hans Christian Erichsen, Liv T. N. Osnes, Cecilie F. Rustad, Katja Benedikte Prestø Elgstøen, Ekkehart Lausch, Richard A. Gibbs, Tore G. Abrahamsen, Paul Hoff Backe, Kimiyo Raymond, Caridad Martinez, Carsten Speckmann, Asbjørg Stray-Pedersen, Magnar Bjørås, Patricia L. Hall, Gen Nishimura, Jordan S. Orange, Torstein Egeland, Arild Rønnestad, Lars Mørkrid, Tomasz Gambin, Donna M. Muzny, Shirley M. Abraham, Ghadir S. Sasa, Eric Boerwinkle, Robert A. Krance, James R. Lupski, Stephan Ehl, Marcus Krüger, Niti Y. Chokshi, Jostein Westvik, Ankita Patel, Shalini N. Jhangiani, Marcin W. Wlodarski, Else Merckoll, Christine R. Beck
Publikováno v:
The American Journal of Human Genetics. 95:96-107
Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88b40d1b6f9b7e971d79a9b1c222ae35
https://doi.org/10.1016/j.ajhg.2014.05.007
https://doi.org/10.1016/j.ajhg.2014.05.007
Autor:
Gye Yeon Lim, Sarah F. Smithson, Abdulrahman Alswaid, Koji M. Nishiguchi, Naomichi Matsumoto, Zheng Wang, Bertrand Isidor, Mohammed AlBalwi, Toru Nakazawa, Jostein Westvik, Eva-Lena Stattin, Else Merckoll, Masahiro Nakajima, Gen Nishimura, Cecilie F. Rustad, H. Ohashi, Shiro Ikegawa, Tae Joon Cho, Ok Hwa Kim, Aritoshi Iida, Noriko Miyake, Albert David, Ikuyo Kou, Giedre Grigelioniene, Kosuke Fujita
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150555 (2016)
PLoS ONE
PLoS ONE
Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::702ba750b0b749b3712bbf88fbc0d201
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-119660
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-119660
Autor:
Cecilie, Rustad, Hilde, Bjørndalen, Anne Grethe, Myhre, Cathrine Alsaker, Heier, Joachim, Horn, Andreas, Knaus, Ivan, Hvid, Else, Merckoll, Målfrid, Tveiterås, Jostein, Westvik
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 135(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2a09d90208b4ec9f70edc64624d622ac
https://pubmed.ncbi.nlm.nih.gov/25761024
https://pubmed.ncbi.nlm.nih.gov/25761024
Autor:
Kristine Stadskleiv, Sacha Ferdinandusse, Tuva Barøy, Else Merckoll, Petter Strømme, Eirik Frengen, Merel S. Ebberink, Ronald J.A. Wanders, Doriana Misceo, Jostein Westvik, Hans R. Waterham, Berit Woldseth, Nick Wood, Bjørn Tvedt, John H. Walter, Asbjørn Holmgren, Janet Koster, Timothy P. Hughes
Publikováno v:
Human molecular genetics, 24(20), 5845-5854. Oxford University Press
Import of peroxisomal matrix proteins, crucial for peroxisome biogenesis, is mediated by the cytosolic receptors PEX5 and PEX7 that recognize proteins carrying peroxisomal targeting signals 1 or 2 (PTS1 or PTS2), respectively. Mutations in PEX5 or 12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc967d0d3b8c4ec506bc9a1012e3ad6
https://pure.amc.nl/en/publications/a-novel-type-of-rhizomelic-chondrodysplasia-punctata-rcdp5-is-caused-by-loss-of-the-pex5-long-isoform(9f4fc048-8a3e-4aeb-a1a4-6ea6fcec0c77).html
https://pure.amc.nl/en/publications/a-novel-type-of-rhizomelic-chondrodysplasia-punctata-rcdp5-is-caused-by-loss-of-the-pex5-long-isoform(9f4fc048-8a3e-4aeb-a1a4-6ea6fcec0c77).html
Autor:
Gun Peggy Knudsen, Anne Søyland, Marianne Kristiansen, Jostein Westvik, Karen Helene Ørstavik
Publikováno v:
American Journal of Medical Genetics. 108:120-127
Melnick-Needles syndrome is a rare putative X-linked dominant bone dysplasia. The patients have short stature, characteristic facial features, and a normal intelligence. The skeletal dysplasia includes S-shaped curvature of tubular bones and sclerosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d92f983e65f135a699b971b867e9bc12
https://doi.org/10.1002/ajmg.10245
https://doi.org/10.1002/ajmg.10245
Publikováno v:
Interactive cardiovascular and thoracic surgery. 13(1)
We report two infants who underwent right pneumonectomy in infancy and developed postpneumonectomy syndrome with obstruction of the left main bronchus causing severe airway obstruction in one patient and gastrointestinal reflux due to a displaced and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d3acbb13bbfb5b65216c7729c1b7a2e
https://pubmed.ncbi.nlm.nih.gov/21422160
https://pubmed.ncbi.nlm.nih.gov/21422160
Autor:
Asbjorn S Westvik, E.M. Schumacher, Tom Stiris, Pål G. Larsson, Jostein Westvik, Rolf Lindemann
Publikováno v:
Pediatric research. 69(5 Pt 1)
Long-term EEG monitoring (LTM) with several electrodes could be a useful tool for surveillance of the brain during the first critical days of life. This study aimed to assess the feasibility of multichannel LTM for automated analysis of EEG activity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1c33689298835f391b5bbfbf622113e
https://pubmed.ncbi.nlm.nih.gov/21283050
https://pubmed.ncbi.nlm.nih.gov/21283050
Autor:
Cathrine Alsaker Heier, Andreas Knaus, Ivan Hvid, Målfrid Tveiterås, Joachim Horn, Anne Grethe Myhre, Cecilie F. Rustad, Jostein Westvik, Else Merckoll, Hilde Bjørndalen
Publikováno v:
Tidsskrift for Den norske legeforening. 135:736-736
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28738e040d75d38ff5eece9241562b5e
https://doi.org/10.4045/tidsskr.15.0440
https://doi.org/10.4045/tidsskr.15.0440
Autor:
Marianne, Kristiansen, Gun Peggy, Knudsen, Anne, Søyland, Jostein, Westvik, Karen Helene, Ørstavik
Publikováno v:
American journal of medical genetics. 108(2)
Melnick-Needles syndrome is a rare putative X-linked dominant bone dysplasia. The patients have short stature, characteristic facial features, and a normal intelligence. The skeletal dysplasia includes S-shaped curvature of tubular bones and sclerosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0c4b9dba1d47470de799137b711687a5
https://pubmed.ncbi.nlm.nih.gov/11857561
https://pubmed.ncbi.nlm.nih.gov/11857561