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2020
1 Yaddehi Gamage, Thilini Hansamali Gamage; Lengle, Emma; Gunnes, Gjermund; Pullisaar, Helen; Holmgren, Asbjørn; Reseland, Janne Elin; Merckoll, Else; Corti, Stefania; Mizobuchi, Masahiro; Morales, RaulJ; Tsiokas, Leonidas; Tjønnfjord, Geir Erland; Lacruz, Rodrigo S; Lyngstadaas, Ståle Petter; Misceo, Doriana; Frengen, Eirik.
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone. Cell Calcium 2020 ;Volume 85. p. -
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2019
2 Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Corominas, Jordi; Frengen, Eirik; Misceo, Doriana.
TBCK encephaloneuropathy with abnormal lysosomal storage: Use of a structural variant bioinformatics pipeline on whole-genome sequencing data unravels a 20-year-old clinical mystery. Pediatric Neurology 2019 ;Volume 96. p. 74-75
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3 Yaddehi Gamage, Thilini Hansamali Gamage; Lengle, Emma; Gunnes, Gjermund; Pullisaar, Helen; Holmgren, Asbjørn; Reseland, Janne Elin; Merckoll, Else; Corti, Stefania; Mizobuchi, Masahiro; Morales, Raul J.; Tsiokas, Leonidas; Tjønnfjord, Geir Erland; Lacruz, Rodrigo S; Lyngstadaas, Ståle Petter; Misceo, Doriana; Frengen, Eirik.
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.. Cell Calcium 2019 ;Volume 85.
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2018
4 Kotlarz, Daniel; Marquardt, Benjamin; Barøy, Tuva; Lee, Way S.; Konnikova, Liza; Hollizeck, Sebastian; Magg, Thomas; Lehle, Anna S.; Walz, Christoph; Borggraefe, Ingo; Hauck, Fabian; Bufler, Philip; Conca, Raffaele; Wall, Sarah M.; Schumacher, Eva Margrethe; Misceo, Doriana; Frengen, Eirik; Bentsen, Beint Sigmund; Uhlig, Holm H.; Hopfner, Karl-Peter; Muise, Aleixo M.; Snapper, Scott B.; Strømme, Petter; Klein, Christoph.
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics 2018 ;Volume 50.(3) p. 344-348
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5 Strømme, Petter; Groeneweg, Stefan; Lima de Souza, Elaine C.; Zevenbergen, Chantal; Torgersbråten, Anette; Holmgren, Asbjørn; Gurcan, Ebrar; Meima, Marcel E.; Peeters, Robin P.; Visser, W. Edward; Johansson, Linda Høneren; Babovic, Almira; Zetterberg, Henrik; Heuer, Heike; Frengen, Eirik; Misceo, Doriana; Visser, Theo J..
Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration. Thyroid 2018 ;Volume 28.(11) p. 1406-1415
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6 Yaddehi Gamage, Thilini Hansamali Gamage; Gunnes, Gjermund; Lee, Robert Hugh; Louch, William Edward; Holmgren, Asbjørn; Bruton, Joseph D.; Lengle, Emma; Kolstad, Terje R Selnes; Revold, Tobias; Amundsen, Silja Svanstrøm; Dalen, Knut Tomas; Holme, Pål Andre; Tjønnfjord, Geir Erland; Christensen, Geir Arve; Westerblad, Håkan; Klungland, Arne; Bergmeier, Wolfgang; Misceo, Doriana; Frengen, Eirik.
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice. Cell Calcium 2018 ;Volume 76. p. 87-100
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2017
7 Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; Paracha, Sohail Aziz; Iqbal, Zafar; Khan, Jamshed; Assir, Muhammad Zaman; Hussain, Mureed; Razzaq, Attia; Polla, Daniel Lôpo; Taj, Abid Sohail; Holmgren, Asbjørn; Batool, Naila; Misceo, Doriana; Iwaszkiewicz, Justyna; de Brouwer, Arjan P.M.; Guipponi, Michel; Hanquinet, Sylviane; Zoete, Vincent; Santoni, Federico A.; Frengen, Eirik; Ahmed, Jawad; Riazuddin, Sheikh; Van Bokhoven, Hans; Antonarakis, Stylianos E..
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. Genetics in Medicine 2017 ;Volume 20.(7) p. 778-784
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8 Gabriele, Michele; Vulto-van Silfhout, Anneke T.; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman; Douglas, Evelyn; Haan, Eric; Kosaki, Kenjiro; Takenouchi, Toshiki; Rauch, Anita; Steindl, Katharina; Frengen, Eirik; Misceo, Doriana; Christeen Ramane, Pedurupillay Jesuthasan; Strømme, Petter; Rosenfeld, Jill A.; Shao, Yunru; Craigen, William J.; Schaaf, Christian P.; Rodriguez-Buritica, David; Farach, Laura; Friedman, Jennifer; Thulin, Perla; McLean, Scott D.; Nugent, Kimberly M.; Morton, Jenny; Nicholl, Jillian; Andrieux, Joris; Stray-Pedersen, Asbjørg; Chambon, Pascal; Patrier, Sophie; Lynch, Sally A.; Kjærgaard, Susanne; Tørring, Pernille M.; Brasch-Andersen, Charlotte; Ronan, Anne; van Haeringen, Arie; Anderson, Peter J.; Powis, Zoë; Brunner, Han G.; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H.M.; van Bon, Bregje W.M.; Lelieveld, Stefan; Gilissen, Christian; Nillesen, Willy M.; Vissers, Lisenka E.L.M.; Gecz, Jozef; Koolen, David A.; Testa, Giuseppe; de Vries, Bert B.A..
YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Journal of Human Genetics 2017 ;Volume 100.(6) p. 907-925
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9 Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O.; Helbig, Katherine L.; Tang, Sha; Willing, Marcia C.; Tinkle, Brad T.; Adams, Darius J.; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Docker, Dennis; Strom, Tim M.; Mefford, Heather C.; Myers, Candace T.; Muir, Alison M.; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E.; Brilstra, Eva; van Haelst, Mieke M.; van der Smagt, Jasper J.; Bok, Levinus A.; Møller, Rikke S.; Jensen, Uffe B.; Millichap, John J.; Berg, Anne T.; Goldberg, Ethan M.; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R.; Zackai, Elaine H.; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J.; Lawson, John A.; Roscioli, Tony; Jansen, Floor E.; Ranza, Emmanuelle; Korff, Christian M.; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R.; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A.; Brady, Lauren I.; Wolff, Markus; Dondit, Lutz; Pedro, Helio F.; Parisotto, Sarah E.; Jones, Kelly L.; Patel, Anup D.; Franz, David N.; Vanzo, Rena; Marco, Elysa; Ranells, Judith D.; Di Donato, Nataliya; Dobyns, William B.; Laube, Bodo; Traynelis, Stephen F.; Lemke, Johannes R..
GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics 2017 ;Volume 54.(7) p. 460-470
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2016
10 Barøy, Tuva; Pedurupillay Jesuthasan, Christeen Ramane; Bliksrud, Yngve Thomas; Rasmussen, Magnhild; Holmgren, Asbjørn; Vigeland, Magnus Dehli; Hughes, Timothy; Brink, Maaike; Rodenburg, Richard J.; Nedregaard, Bård; Strømme, Petter; Frengen, Eirik; Misceo, Doriana.
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. European Journal of Medical Genetics 2016 ;Volume 59.(6-7) p. 342-346
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11 Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schutz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nurnberg, Peter; Thiele, Holger; Kurlemann, Gerhard; Arnold, Georgianne L.; Bhambhani, Vikas; Bartholdi, Deborah; Christeen Ramane, Pedurupillay Jesuthasan; Misceo, Doriana; Frengen, Eirik; Strømme, Petter; Dlugos, Dennis J.; Doherty, Emily S.; Bijlsma, Emilia K.; Ruivenkamp, Claudia A.; Hoffer, Mariette J.V.; Goldstein, Amy; Rajan, Deepa S.; Narayanan, Vinodh; Ramsey, Keri; Belnap, Newell; Schrauwen, Isabelle; Richholt, Ryan; Koeleman, Bobby P.C.; Sa, Joaquim; Mendonca, Carla; de Kovel, Carolien G.F.; Weckhuysen, Sarah; Hardies, Katia; De Jonghe, Peter; De Meirleir, Linda; Milh, Mathieu; Badens, Catherine; Lebrun, Marine; Busa, Tiffany; Francannet, Christine; Piton, Amelie; Riesch, Erik; Biskup, Saskia; Vogt, Heinrich; Dorn, Thomas; Helbig, Ingo; Michaud, Jacques L.; Laube, Bodo; Syrbe, Steffen.
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology 2016 ;Volume 86.(23) p. 2171-2178
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12 Pedurupillay Jesuthasan, Christeen Ramane; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rasmussen, Magnhild; Blomhoff, Anne; Stadheim, Barbro; Ørstavik, Kristin; Holmgren, Asbjørn; Iqbal, Tahir; Frengen, Eirik; Misceo, Doriana; Strømme, Petter.
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. Neuromuscular Disorders 2016 ;Volume 26.(9) p. 570-575
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13 Pedurupillay Jesuthasan, Christeen Ramane; Landsend, Erlend Christoffer Sommer; Vigeland, Magnus Dehli; Ansar, Muhammad; Frengen, Eirik; Misceo, Doriana; Strømme, Petter.
Segregation of incomplete achromatopsia and alopecia due to PDE6H and LPAR6 variants in a consanguineous family from Pakistan. Genes 2016 ;Volume 7.(8) p. -
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14 Skauli, Nadia; Wallace, Sean Ciaran; Chiang, Samuel C.C.; Barøy, Tuva; Holmgren, Asbjørn; Stray-Pedersen, Asbjørg; Bryceson, Yenan T.; Strømme, Petter; Frengen, Eirik; Misceo, Doriana.
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. Genes 2016 ;Volume 7.(12) p. -
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2015
15 Barøy, Tuva; Koster, Janet; Strømme, Petter; Ebberink, Merel S.; Misceo, Doriana; Ferdinandusse, Sacha; Holmgren, Asbjørn; Hughes, Timothy; Merckoll, Else; Westvik, Jostein; Woldseth, Berit; Walter, John; Wood, Nick; Tvedt, Bjørn; Stadskleiv, Kristine; Wanders, Ronald J.A.; Waterham, Hans R.; Frengen, Eirik.
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Human Molecular Genetics 2015 ;Volume 24.(20) p. 5845-5854
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16 Carlsen, Ellen Øen; Frengen, Eirik; Fannemel, Madeleine; Misceo, Doriana.
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay. American Journal of Medical Genetics 2015 ;Volume 167.(8) p. 1890-1896
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17 Christeen Ramane, Pedurupillay Jesuthasan; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus Dehli; Sheng, Ying; Frengen, Eirik; Strømme, Petter; Misceo, Doriana.
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. American Journal of Medical Genetics. Part A 2015 ;Volume 167.(3) p. 657-663
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18 Hladilkova, Eva; Barøy, Tuva; Fannemel, Madeleine; Vallova, Vladimira; Misceo, Doriana; Bryn, Vesna; Slamova, Iva; Prasilova, Sarka; Kuglik, Petr; Frengen, Eirik.
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Molecular Cytogenetics 2015 ;Volume 8:57.
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19 Tjeldhorn, Lena; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rand-Hendriksen, Svend; Geiran, Odd; Frengen, Eirik; Paus, Benedicte.
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome. BMC Medical Genetics 2015 ;Volume 16.(113) p. -
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2014
20 Askautrud, Hanne Arenberg; Gjernes, Elisabet; Gunnes, Gjermund; Sletten, Marit; Ross, D. T.; Børresen-Dale, Anne-Lise; Iversen, Nina; Tranulis, Michael A.; Frengen, Eirik.
Global Gene Expression Analysis Reveals a Link between NDRG1 and Vesicle Transport. PLOS ONE 2014 ;Volume 9.(1)
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21 Belengeanu, Valerica; Gamage, Thilini Yaddehi; Farcas, Sorina; Stoian, Monica; Andreescu, Nicoleta; Belengeanu, Alina; Frengen, Eirik; Misceo, Doriana.
A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl. Gene 2014 ;Volume 539.(1) p. 168-172
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22 Fannemel, Madeleine; Barøy, Tuva; Holmgren, Asbjørn; Rødningen, Olaug Kristin; Haugsand, Trine Marie; Hansen, Børre; Frengen, Eirik; Misceo, Doriana.
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms. European Journal of Medical Genetics 2014 ;Volume 57.(9) p. 513-519
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23 Misceo, Doriana; Holmgren, Asbjørn; Louch, William Edward; Holme, Pål Andre; Mizobuchi, Masahiro; Morales, Raul J.; De Paula, André Maues; Stray-Pedersen, Asbjørg; Lyle, Robert; Dalhus, Bjørn; Christensen, Geir Arve; Stormorken, Helge; Tjønnfjord, Geir Erland; Frengen, Eirik.
A Dominant STIM1 Mutation Causes Stormorken Syndrome. Human Mutation 2014 ;Volume 35.(5) p. 556-564
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24 Pedurupillay Jesuthasan, Christeen Ramane; Misceo, Doriana; Gamage, Thilini Yaddehi; Dissanayake, Vajira H.W; Frengen, Eirik.
Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay. Gene 2014 ;Volume 533.(1) p. 403-410
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25 Vetvik, Katja K; Sonerud, Tonje; Lindeberg, Mona Mari; Luders, Torben; Størkson, Ragnhild Helene; Jonsdottir, Kristin; Frengen, Eirik; Pietiläinen, Kirsi H.; Bukholm, Ida Rashida Khan.
Globular adiponectin and its downstream target genes are up-regulated locally in human colorectal tumors: Ex vivo and in vitro studies. Metabolism: Clinical and Experimental 2014 ;Volume 63.(5) p. 672-681
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26 Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal; Tzoulis, Charalampos.
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLOS ONE 2014 ;Volume 9.(1)
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2013
27 Barøy, Tuva; Misceo, Doriana; Strømme, Petter; Stray-Pedersen, Asbjørg; Holmgren, Asbjørn; Rødningen, Olaug Kristin; Blomhoff, Anne; Helle, Johan Robert; Stormyr, Alice; Tvedt, Bjørn; Fannemel, Madeleine; Frengen, Eirik.
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Orphanet Journal of Rare Diseases 2013 ;Volume 8. p. -
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28 Gamage, Thilini Yaddehi; Misceo, Doriana; Fannemel, Madeleine; Frengen, Eirik.
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy. European Journal of Medical Genetics 2013 ;Volume 56.(7) p. 361-364
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29 Helle, Johan Robert; Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Fannemel, Madeleine; Frengen, Eirik.
Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX3 Expression. American Journal of Medical Genetics. Part A 2013 ;Volume 161A.(5) p. 1137-1142
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2012
30 Floor, Karyn; Barøy, Tuva; Misceo, Doriana; Kanavin, Øivind J.; Fannemel, Madeleine; Frengen, Eirik.
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features. European Journal of Medical Genetics 2012 ;Volume 55.(12) p. 695-699
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31 Misceo, Doriana; Barøy, Tuva; Helle, Johan Robert; Braaten, Øivind; Fannemel, Madeleine; Frengen, Eirik.
1.5 Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development. Gene 2012 ;Volume 507.(1) p. 85-91
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32 Nakasone, Elizabeth S.; Askautrud, Hanne Arenberg; Kees, Tim; Park, Jae-Hyun; Plaks, Vicki; Ewald, Andrew J.; Fein, Miriam; Rasch, Morten G.; Tan, Ying-Xim; Qiu, Jing; Park, Juwon; Sinha, Pranay; Bissell, Mina J.; Frengen, Eirik; Werb, Zena; Egeblad, Mikala.
Imaging Tumor-Stroma Interactions during Chemotherapy Reveals Contributions of the Microenvironment to Resistance. Cancer Cell 2012 ;Volume 21.(4) p. 488-503
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2011
33 Misceo, Doriana; Rødningen, Olaug Kristin; Barøy, Tuva; Sorte, Hanne Sørmo; Mellembakken, Jan Roar; Strømme, Petter; Fannemel, Madeleine; Frengen, Eirik.
A Translocation Between Xq21.33 and 22q13.33 Causes an Intragenic SHANK3 Deletion in a Woman With Phelan-McDermid Syndrome and Hypergonadotropic Hypogonadism. American Journal of Medical Genetics 2011 ;Volume 155.(2) p. 403-408
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2010
34 Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Helle, Johan Robert; Fannemel, Madeleine; Strømme, Petter; Frengen, Eirik.
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. European Journal of Medical Genetics 2010 ;Volume 53.(4) p. 221-224
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35 Barøy, Tuva; Misceo, Doriana; Fannemel, Madeleine; Stormyr, Alice; Rødningen, Olaug Kristin; Helle, Johan Robert; Braaten, Øivind; Rustad, Cecilie F.; Kristiansen, Bjørn Evert; Sorte, Hanne Sørmo; Strømme, Petter; Frengen, Eirik.
Two girls with mental retardation and behavioural abnormalities: Is the deletion of the ATXN1 gene on 6p22.3 a major factor in causing the phenotype?. European Human Genetics Conference 2010; 2010-06-12 - 2010-06-15
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36 Barøy, Tuva; Sørensen, Kirsten; Lindeberg, Mona Mari; Frengen, Eirik.
shRNA Expression Constructs Designed Directly from siRNA Oligonucleotide Sequences. Molecular Biotechnology 2010 ;Volume 45.(2) p. 116-120
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2009
37 Misceo, Doriana; Fannemel, Madeleine; Barøy, Tuva; Roberto, Roberta; Tvedt, B; Jaeger, T; Bryn, V; Strømme, Petter; Frengen, Eirik.
SCA27 caused by a chromosome translocation: further delineation of the phenotype. Neurogenetics 2009 ;Volume 10.(4) p. 371-374
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38 Askautrud, Hanne A; Størvold, G; Lindeberg, Mona M; Thorsen, Jim; Prydz, Hans; Frengen, Eirik.
Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells. BMC Biotechnology 2009 ;Volume 9.
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39 Askautrud, Hanne Arenberg; Gjernes, Elisabet; Størvold, Gro Leite; Lindeberg, Mona Mari; Thorsen, J; Prydz, Hans Peter B; Frengen, Eirik.
Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells. BMC Biotechnology 2009 ;Volume 9. p. -
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40 Chandriani, S; Frengen, Eirik; Cowling, V; Pendergrass, SA; Perou, CM; Whitfield, ML; Cole, MD.
A Core MYC Gene Expression Signature is prominent in basal-like breast cancer but only partially overlaps the Core Serum Response. PLOS ONE 2009 ;Volume 4.(8) p. 6693-
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41 Misceo, Doriana; Rocchi, M; Hagen, Carl Birger van der; Frengen, Eirik.
A Partial Trisomy 1q Patient With a Deletion 1q22 and an Insertion 1(q42q44) Into 1q22. American Journal of Medical Genetics 2009 ;Volume 149A.(2) p. 290-293
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42 Misceo, Doriana; Ørstavik, Karen Helene; Lybæk, H; Sandvig, I; Ormerod, E; Houge, G; Frengen, Eirik.
Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother. American Journal of Medical Genetics 2009 ;Volume 149A.(12) p. 2877-2881
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43 Shaposhnikov, Sergey; Frengen, Eirik; Collins, Andrew Richard.
Increasing the resolution of the comet assay using fluorescent in situ hybridization-a review. Mutagenesis 2009 ;Volume 24.(5) p. 383-389
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44 Skinningsrud, Beate; Husebye, Einar; Husebye, Eystein Sverre; Gilfillan, Gregor D; Frengen, Eirik; Erichsen, Aage; Gervin, Kristina; Gervin, Kristina; Ormerod, Eli; Ormerød, Eli; Egeland, Thore; Egeland, Thore; Undlien, Dag E..
X-Linked Congenital Adrenal Hypoplasia with Hypogonadotropic Hypogonadism Caused by an Inversion Disrupting a Conserved Noncoding Element Upstream of the NR0B1 (DAX1) Gene. Journal of Clinical Endocrinology and Metabolism 2009 ;Volume 94.(10) p. 4086-4093
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45 Stavik, Benedicte; Skretting, Grethe; Sletten, Marit; Frengen, Eirik; Sandset, Per Morten; Iversen, Nina.
Knockdown of TFPI expression in Sum102 breast cancer cells leads to pro-angiogenic phenotypes. Journal of Thrombosis and Haemostasis 2009 ;Volume 7. Suppl. 2
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2008
46 Barøy, Tuva; Misceo, Doriana; Frengen, Eirik.
Strukturell variasjon i genomet bidrar til variasjon i egenskaper. Tidsskrift for Den norske legeforening 2008 ;Volume 128.(17) p. 1951-1955
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47 Misceo, Doriana; BJØRGO, KATHRINE; Ormerod, E; RINGEN, ØYVIND; Rocchi, M; Hagen, Carl Birger van der; Frengen, Eirik.
A patient with a 6p interstital deletion and a de novo complex translocation involving chromosomes 2, 6 and 14. European Journal of Human Genetics 2008 ;Volume 16. Suppl. 2
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48 Misceo, Doriana; BJØRGO, KATHRINE; Ormerod, Eli; RINGEN, ØYVIND; Rocchi, Mariano; Hagen, Carl Birger van der; Frengen, Eirik.
A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient. American Journal of Medical Genetics. Part A 2008 ;Volume 146A.(24) p. 3230-3233
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49 Stavik, Benedicte; Skretting, Grethe; Sletten, Marit; Frengen, Eirik; Sandset, Per Morten; Iversen, Nina.
Stable knockdown of TFPI in cancer cells influences genes involved in angiogenesis. The 3rd European Science Foundation Functional Genomics Conference; 2008-10-01 - 2008-10-04
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50 Ørstavik, Karen Helene; Misceo, Doriana; Lybæk, H; Frengen, Eirik; Houge, G.
A terminal 7,1 Mb chromosome 18p deletion flanked by a 2,3 Mb duplication in a phenotypically normal mother and her microcephalic and mentally retarded son. European Journal of Human Genetics 2008 ;Volume 16. Suppl. 2
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