Eirik Frengen

Image of Eirik Frengen
Norwegian version of this page
Phone +47-22117825
Username
Visiting address Kirkeveien 166 Laboratoriebygget 0450 OSLO
Postal address Postboks 4956 Nydalen 0424 OSLO

Research environment

The research group is a a part of the Research section (In Norwegian) at the Department of Medical Genetics, Oslo University Hospital (OUS).

Scientific interests

We aim to reveal information about the genetic mechanisms causing neurodevelopmental diseases or syndromes, and obtain knowledge about biological consequences leading to the clinical presentation (more information).

Teaching

  • Lecturer in genetics at the Medical School (Modul 1, blokk 2)
  • Supervisor in Problem Based Learning for students at the Medical School.
  • Supervisor for 9 PhD students (5 as main supervisor) and 20 MSc students

Scientific background

  • 1989 Cand. scient (MSc) in general genetics, University of Oslo (UoO)
  • 1993 Dr.scient (PhD) in molecular genetics, UoO. Supervised by Bill Davies at the Norwegian College of Veterinary Medicine.
  • 1993-95 Post doc at Roswell Park Cancer Institute, Buffalo, USA.
  • 1995-2002 Post doc and researcher at Biotechnology Centre of Oslo, UoO.
  • 2002 Researcher at Department of Genetics, Radiumhospitalet.
  • 2003-04 Guest Researcher at Lineberger Comprehensive Cancer Center, Chapel Hill, USA.
  • 2005-> empoyed at the Department of Medical Genetics, UoO.
  • 2010-> Head of the Research section at the Department of Medical Genetics, Oslo University Hospital (OUS).

Publications

  • 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. (2017). YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Journal of Human Genetics.  ISSN 0002-9297.  100(6), s 907- 925 . doi: 10.1016/j.ajhg.2017.05.006
  • 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. (2017). GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics.  ISSN 0022-2593.  54(7), s 460- 470 . doi: 10.1136/jmedgenet-2016-104509
  • 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 (2016). A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. European Journal of Medical Genetics.  ISSN 1769-7212.  59(6-7), s 342- 346 . doi: 10.1016/j.ejmg.2016.05.005
  • 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 (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology.  ISSN 0028-3878.  86(23), s 2171- 2178 . doi: 10.1212/WNL.0000000000002740
  • 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 (2016). Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. Neuromuscular Disorders.  ISSN 0960-8966.  26(9), s 570- 575 . doi: 10.1016/j.nmd.2016.06.457
  • Pedurupillay Jesuthasan, Christeen Ramane; Landsend, Erlend Christoffer Sommer; Vigeland, Magnus Dehli; Ansar, Muhammad; Frengen, Eirik; Misceo, Doriana & Strømme, Petter (2016). Segregation of incomplete achromatopsia and alopecia due to PDE6H and LPAR6 variants in a consanguineous family from Pakistan. Genes.  ISSN 2073-4425.  7(8) . doi: 10.3390/genes7080041 Show summary
  • 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 (2016). Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. Genes.  ISSN 2073-4425.  7(12) . doi: 10.3390/genes7120108 Show summary
  • 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 (2015). A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Human Molecular Genetics.  ISSN 0964-6906.  24(20), s 5845- 5854 . doi: 10.1093/hmg/ddv305
  • Carlsen, Ellen Øen; Frengen, Eirik; Fannemel, Madeleine & Misceo, Doriana (2015). Haploinsufficiency of ANO6, NELL2 and DBX2 in a Boy with Intellectual Disability and Growth Delay. American Journal of Medical Genetics.  ISSN 0148-7299.  167, s 1890- 1896 . doi: 10.1002/ajmg.a.37079
  • Christeen Ramane, Pedurupillay Jesuthasan; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus Dehli; Sheng, Ying; Frengen, Eirik; Strømme, Petter & Misceo, Doriana (2015). Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. American Journal of Medical Genetics. Part A.  ISSN 1552-4825.  167(3), s 657- 663 . doi: 10.1002/ajmg.a.36944
  • Tjeldhorn, Lena; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rand-Hendriksen, Svend; Geiran, Odd; Frengen, Eirik & Paus, Benedicte (2015). Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome. BMC Medical Genetics.  ISSN 1471-2350.  16(113) . doi: 10.1186/s12881-015-0260-4
  • Askautrud, Hanne Arenberg; Gjernes, Elisabet; Gunnes, Gjermund; Sletten, Marit; Ross, D. T.; Børresen-Dale, Anne-Lise; Iversen, Nina; Tranulis, Michael A. & Frengen, Eirik (2014). Global Gene Expression Analysis Reveals a Link between NDRG1 and Vesicle Transport. PLoS ONE.  ISSN 1932-6203.  9(1) . doi: 10.1371/journal.pone.0087268 Full text in Research Archive.
  • Belengeanu, Valerica; Gamage, Thilini Yaddehi; Farcas, Sorina; Stoian, Monica; Andreescu, Nicoleta; Belengeanu, Alina; Frengen, Eirik & Misceo, Doriana (2014). A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl. Gene.  ISSN 0378-1119.  539(1), s 168- 172 . doi: 10.1016/j.gene.2014.01.060
  • Fannemel, Madeleine; Barøy, Tuva; Holmgren, Asbjørn; Rødningen, Olaug Kristin; Haugsand, Trine Marie; Hansen, Børre; Frengen, Eirik & Misceo, Doriana (2014). 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.  ISSN 1769-7212.  57(9), s 513- 519 . doi: 10.1016/j.ejmg.2014.05.008
  • 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 (2014). A Dominant STIM1 Mutation Causes Stormorken Syndrome. Human Mutation.  ISSN 1059-7794.  35(5), s 556- 564 . doi: 10.1002/humu.22544
  • Pedurupillay Jesuthasan, Christeen Ramane; Misceo, Doriana; Gamage, Thilini Yaddehi; Dissanayake, Vajira H.W & Frengen, Eirik (2014). Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay. Gene.  ISSN 0378-1119.  533(1), s 403- 410 . doi: 10.1016/j.gene.2013.09.090
  • Vetvik, Katja K; Sonerud, Tonje; Lindeberg, Mona Mari; Luders, Torben; Størkson, Ragnhild Helene; Jonsdottir, Kristin; Frengen, Eirik; Pietiläinen, Kirsi H. & Bukholm, Ida Rashida Khan (2014). 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.  ISSN 0026-0495.  63(5), s 672- 681 . doi: 10.1016/j.metabol.2014.02.001
  • Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal & Tzoulis, Charalampos (2014). Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLoS ONE.  ISSN 1932-6203.  9(1) . doi: 10.1371/journal.pone.0086340 Full text in Research Archive.
  • 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 (2013). Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Orphanet Journal of Rare Diseases.  ISSN 1750-1172.  8 . doi: 10.1186/1750-1172-8-3
  • Gamage, Thilini Yaddehi; Misceo, Doriana; Fannemel, Madeleine & Frengen, Eirik (2013). 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.  ISSN 1769-7212.  56(7), s 361- 364 . doi: 10.1016/j.ejmg.2013.04.005
  • Helle, Johan Robert; Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Fannemel, Madeleine & Frengen, Eirik (2013). Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX3 Expression. American Journal of Medical Genetics. Part A.  ISSN 1552-4825.  161A(5), s 1137- 1142 . doi: 10.1002/ajmg.a.35823
  • Floor, Karyn; Barøy, Tuva; Misceo, Doriana; Kanavin, Øivind J.; Fannemel, Madeleine & Frengen, Eirik (2012). 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.  ISSN 1769-7212.  55(12), s 695- 699 . doi: 10.1016/j.ejmg.2012.08.002
  • Misceo, Doriana; Barøy, Tuva; Helle, Johan Robert; Braaten, Øivind; Fannemel, Madeleine & Frengen, Eirik (2012). 1.5 Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development. Gene.  ISSN 0378-1119.  507(1), s 85- 91 . doi: 10.1016/j.gene.2012.07.021
  • 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 (2012). Imaging Tumor-Stroma Interactions during Chemotherapy Reveals Contributions of the Microenvironment to Resistance. Cancer Cell.  ISSN 1535-6108.  21(4), s 488- 503 . doi: 10.1016/j.ccr.2012.02.017
  • Misceo, Doriana; Rødningen, Olaug Kristin; Barøy, Tuva; Sorte, Hanne Sørmo; Mellembakken, Jan Roar; Strømme, Petter; Fannemel, Madeleine & Frengen, Eirik (2011). 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.  ISSN 0148-7299.  155(2), s 403- 408 . doi: 10.1002/ajmg.a.33798
  • Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Helle, Johan Robert; Fannemel, Madeleine; Strømme, Petter & Frengen, Eirik (2010). A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. European Journal of Medical Genetics.  ISSN 1769-7212.  53(4), s 221- 224 . doi: 10.1016/j.ejmg.2010.03.010
  • Barøy, Tuva; Sørensen, Kirsten; Lindeberg, Mona Mari & Frengen, Eirik (2010). shRNA Expression Constructs Designed Directly from siRNA Oligonucleotide Sequences. Molecular Biotechnology.  ISSN 1073-6085.  45(2), s 116- 120 . doi: 10.1007/s12033-010-9247-8
  • Misceo, Doriana; Fannemel, Madeleine; Barøy, Tuva; Roberto, Roberta; Tvedt, B; Jaeger, T; Bryn, V; Strømme, Petter & Frengen, Eirik (2009). SCA27 caused by a chromosome translocation: further delineation of the phenotype. Neurogenetics.  ISSN 1364-6745.  10(4), s 371- 374 . doi: 10.1007/s10048-009-0197-x
  • Askautrud, Hanne A; Størvold, G; Lindeberg, Mona M; Thorsen, Jim; Prydz, Hans & Frengen, Eirik (2009). Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells. BMC Biotechnology.  ISSN 1472-6750.  9 . doi: 10.1186/1472-6750-9-88
  • Askautrud, Hanne Arenberg; Gjernes, Elisabet; Størvold, Gro Leite; Lindeberg, Mona Mari; Thorsen, J; Prydz, Hans Peter B & Frengen, Eirik (2009). Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells. BMC Biotechnology.  ISSN 1472-6750.  9 . doi: 10.1186/1472-6750-9-88
  • Chandriani, S; Frengen, Eirik; Cowling, V; Pendergrass, SA; Perou, CM; Whitfield, ML & Cole, MD (2009). A Core MYC Gene Expression Signature is prominent in basal-like breast cancer but only partially overlaps the Core Serum Response. PLoS ONE.  ISSN 1932-6203.  4(8), s 6693 Full text in Research Archive.
  • Misceo, Doriana; Rocchi, M; Hagen, Carl Birger van der & Frengen, Eirik (2009). A Partial Trisomy 1q Patient With a Deletion 1q22 and an Insertion 1(q42q44) Into 1q22. American Journal of Medical Genetics.  ISSN 0148-7299.  149A(2), s 290- 293 . doi: 10.1002/ajmg.a.32623
  • Misceo, Doriana; Ørstavik, Karen Helene; Lybæk, H; Sandvig, I; Ormerod, E; Houge, G & Frengen, Eirik (2009). 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.  ISSN 0148-7299.  149A(12), s 2877- 2881 . doi: 10.1002/ajmg.a.33106
  • Shaposhnikov, Sergey; Frengen, Eirik & Collins, Andrew Richard (2009). Increasing the resolution of the comet assay using fluorescent in situ hybridization-a review. Mutagenesis.  ISSN 0267-8357.  24(5), s 383- 389 . doi: 10.1093/mutage/gep021
  • 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. (2009). 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.  ISSN 0021-972X.  94(10), s 4086- 4093 . doi: 10.1210/jc.2009-0923
  • Barøy, Tuva; Misceo, Doriana & Frengen, Eirik (2008). Strukturell variasjon i genomet bidrar til variasjon i egenskaper. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  128(17), s 1951- 1955 . doi: http://pdf.tidsskriftet.no/tsPdf.php?pdf=pdf2008|1951-5.pdf
  • Shaposhnikov, Sergey; Akopov, SB; Chernov, IP; Thomsen, PD; Joergensen, C; Collins, Andrew Richard; Frengen, Eirik & Nikolaev, LG (2007). A map of nuclear matrix attachment regions within the breast cancer loss-of-heterozygosity region on human chromosome 16q22.1. Genomics.  ISSN 0888-7543.  89, s 354- 361 . doi: 10.1016/j.ygeno.2006.11.003
  • Størvold, Gro Leite; Gjernes, Elisabet; Askautrud, Hanne Arenberg; Børresen-Dale, Anne-Lise; Perou, Charles M & Frengen, Eirik (2007). A retroviral vector for siRNA expression in mammalian cells. Molecular Biotechnology.  ISSN 1073-6085.  35(3), s 275- 282
  • Størvold, GL; Andersen, TI; Perou, CM & Frengen, Eirik (2006). siRNA, a potential tool for future breast cancer therapy?. Critical reviews in oncogenesis.  ISSN 0893-9675.  12, s 127- 150
  • Thorsen, J; Zhu, BL; Frengen, Eirik; Osoegawa, K; de Jong, PJ; Koop, BF; Davidson, WS & Hoyheim, B (2005). A highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects. BMC Genomics.  ISSN 1471-2164.  6
  • Thorsen, Jim; Zhu, B.P; Frengen, Eirik; Osoegawa, Kazutoyo; de Jong, Pieter J.; Koop, Ben F.; Davidson, William S. & Høyheim, Bjørn (2005). A highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects. BMC Genomics.  ISSN 1471-2164.  6, s 50 Show summary

View all works in Cristin

  • Hladilkova, Eva; Barøy, Tuva; Fannemel, Madeleine; Vallova, Vladimira; Misceo, Doriana; Bryn, Vesna; Slamova, Iva; Prasilova, Sarka; Kuglik, Petr & Frengen, Eirik (2015). A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Molecular Cytogenetics.  ISSN 1755-8166.  8:57 . doi: 10.1186/s13039-015-0157-0
  • 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 (2010). 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?.
  • Misceo, Doriana; BJØRGO, KATHRINE; Ormerod, E; RINGEN, ØYVIND; Rocchi, M; Hagen, Carl Birger van der & Frengen, Eirik (2008). A patient with a 6p interstital deletion and a de novo complex translocation involving chromosomes 2, 6 and 14. European Journal of Human Genetics.  ISSN 1018-4813.  16
  • Misceo, Doriana; BJØRGO, KATHRINE; Ormerod, Eli; RINGEN, ØYVIND; Rocchi, Mariano; Hagen, Carl Birger van der & Frengen, Eirik (2008). 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.  ISSN 1552-4825.  146A(24), s 3230- 3233 . doi: 10.1002/ajmg.a.32582
  • Ørstavik, Karen Helene; Misceo, Doriana; Lybæk, H; Frengen, Eirik & Houge, G (2008). 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.  ISSN 1018-4813.  16
  • Shaposhnikov, Sergey; Akopov, S; Chernov, I I.; Nikolaev, LG; Frengen, Eirik; Collins, Andrew Richard & Zverev, V (2007). A map of nuclear matrix attachment regions within the breast cancer loss-of-heterozygosity region on human chromosome 16q22.1.
  • Askautrud, Hanne Arenberg; Gjernes, Elisabet; Størvold, Gro Leite; Børresen-Dale, Anne-Lise & Frengen, Eirik (2006). Hypoxia response in breast cancer models. Mechanisms and Models of Cancer.
  • Gjernes, Elisabet; Størvold, Gro Leite; Askautrud, Hanne Arenberg; Børresen-Dale, Anne-Lise; Perou, Charles M & Frengen, Eirik (2005). Functional characterization of genes involved in the development of breast cancer.
  • Driouch, K; Prydz, Hans Peter B; Lidereau, R & Frengen, Eirik (2003). Altered expression of the candidate tumor suppressor gene, WWOX, in human breast tumors. European Journal of Human Genetics.  ISSN 1018-4813.  10, s 86- 86
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Published Apr. 13, 2011 2:53 PM - Last modified June 23, 2017 11:47 AM