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2023
1 Misceo, Doriana; Lirussi, Lisa; Strømme, Petter; Sumathipala, Dulika Sanjeewani; Guerin, Andrea; Wolf, Nicole I; Server, Andrés; Stensland, Maria; Dalhus, Bjørn; Tolun, Asllhan; Kroes, Hester Y; Nyman, Tuula Anneli; Nilsen, Hilde; Frengen, Eirik.
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis. Brain 2023 ;Volume 146.(8) p. 3513-3527
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2 Misceo, Doriana; Senaratne, Lokuliyanage Dona Samudita; Mero, Inger-Lise; Sundaram, Arvind; Bjørnstad, Pål Marius; Szczałuba, Krzysztof; Gasperowicz, Piotr; Kamien, Benjamin; Nedregaard, Bård; Holmgren, Asbjørn; Strømme, Petter; Frengen, Eirik.
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome. Genes 2023 ;Volume 14.(11) p. 1-11
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2022
3 Cherik, Florian; Reilly, Jack; Kerkhof, Jennifer; Levy, Michael; McConkey, Haley; Barat-Houari, Mouna; Butler, Kameryn M.; Coubes, Christine; Lee, Jennifer A.; Le Guyader, Gwenael; Louie, Raymond J.; Patterson, Wesley G.; Tedder, Matthew L.; Bak, Mads; Hammer, Trine Bjørg; Craigen, William; Démurger, Florence; Dubourg, Christèle; Fradin, Mélanie; Franciskovich, Rachel; Frengen, Eirik; Friedman, Jennifer; Palares, Nathalie Ruiz; Iascone, Maria; Misceo, Doriana; Monin, Pauline; Odent, Sylvie; Philippe, Christophe; Rouxel, Flavien; Saletti, Veronica; Strømme, Petter; Thulin, Perla Cassayre; Sadikovic, Bekim; Genevieve, David.
DNA methylation episignature in Gabriele-de Vries syndrome. Genetics in Medicine 2022 ;Volume 24.(4) p. 905-914
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4 Saida, Ken; Maroofian, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O'Brien, Thomas J.; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Takizawa, Marina; Ohori, Sachiko; Leong, Huey Yin; Akay, Gulsen; Galehdari, Hamid; Zamani, Mina; Romy, Ratna; Carroll, Christopher J.; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Malek, Hadis; Ahangari, Najmeh; Tomoum, Hoda; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Murphy, David; Dominik, Natalia; Elbendary, Hasnaa M.; Rafat, Karima; Yilmaz, Sanem; Kanmaz, Seda; Serin, Mine; Krishnakumar, Deepa; Gardham, Alice; Maw, Anna; Rao, Tekki Sreenivasa; Alsubhi, Sarah; Srour, Myriam; Buhas, Daniela; Jewett, Tamison; Goldberg, Rachel E.; Shamseldin, Hanan; Frengen, Eirik; Misceo, Doriana; Strømme, Petter; Magliocco Ceroni, José Ricardo; Kim, Chong Ae; Yesil, Gozde; Sengenc, Esma; Guler, Serhat; Hull, Mariam; Parnes, Mered; Aktas, Dilek; Anlar, Banu; Bayram, Yavuz; Pehlivan, Davut; Posey, Jennifer E.; Alavi, Shahryar; Madani Manshadi, Seyed Ali; Alzaidan, Hamad; Al-Owain, Mohammad; Alabdi, Lama; Abdulwahab, Ferdous; Sekiguchi, Futoshi; Hamanaka, Kohei; Fujita, Atsushi; Uchiyama, Yuri; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Elshafie, Reem M.; Salayev, Kamran; Guliyeva, Ulviyya; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Monaghan, Kristin G.; Langley, Katherine G.; Yang, Hui; Motavaf, Mahsa; Safari, Saeid; Alipour, Mozhgan; Ogata, Kazuhiro; Brown, André E.X.; Lupski, James R.; Houlden, Henry; Matsumoto, Naomichi.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine 2022 ;Volume 25.(1) p. 90-102
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5 Sumathipala, Dulika Sanjeewani; Strømme, Petter; Fattahi, Zohreh; Lüders, Torben; Sheng, Ying; Kahrizi, Kimia; Holm, Ingunn; Sloan, Jennifer L; Najmabadi, Hossein; Van Den Heuvel, Lambert; Wevers, Ron A; Guerrero-Castillo, Sergio; Mørkrid, Lars; Valayannopoulos, Vassili; Backe, Paul Hoff; Venditti, Charles P; Van Karnebeek, Clara D; Nilsen, Hilde; Frengen, Eirik; Misceo, Doriana.
ZBTB11 dysfunction: Spectrum of brain abnormalities, biochemical signature and cellular consequences. Brain 2022 ;Volume 145.(7) p. 2602-2616
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2021
6 Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; Van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent; Brais, Bernard; Sylvain, Michel; Sébire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Strømme, Petter; De Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice M.; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I.; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özklnay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K.; Stevens, CA; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; Van De Warrenburg, Bart P.; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; Van Der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I.; Bernard, Genevieve.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Journal of Clinical Endocrinology and Metabolism (JCEM) 2021 ;Volume 106.(2) p. E660-E674
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7 Strømme, Petter.
Sint nikkedukke – nevrologisk syndrom i en kriminalroman. Tidsskrift for Den norske legeforening 2021 ;Volume 141.(5) p. 1-8
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2020
8 Epting, Daniel; Senaratne, Lokuliyanage Dona Samudita; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika Sanjeewani; Larsen, Selma Mujezinovic; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari-Anne; Crowley, Suzanne; SIKIRIC, ALMA; Barøy, Tuva; Käsmann‐Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine; Patzke, Sebastian; Phelps, Ian G.; Katsanis, Nicholas; Giles, Rachel; Schmidts, Miriam; Zucknick, Manuela; Lienkamp, Soeren S.; Omran, Heymut; Davis, Erica E.; Doherty, Dan; Strømme, Petter; Frengen, Eirik; Bergmann, Carsten; Misceo, Doriana.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.. Human Mutation 2020 p. 1-16
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9 Sumathipala, Dulika Sanjeewani; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H.; Frengen, Eirik; Strømme, Petter.
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1. Clinical Dysmorphology 2020 ;Volume 29.(2) p. 107-110
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10 Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Einarsen, Ingunn Holm; Bjørndalen, Hilde; Server, Andrés; Corominas, Jordi; Hassel, Bjørnar; Fannemel, Madeleine; Misceo, Doriana; Frengen, Eirik.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. BMC Medical Genetics 2020 ;Volume 21:96. p. 1-6
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2019
11 Bjurulf, Bjørn; Magnus, Per; Hallböök, Tove; Strømme, Petter.
Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study. Developmental Medicine & Child Neurology 2019 ;Volume 62.(1) p. 57-61
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12 Filges, Isabel; Strømme, Petter.
CUGC for Stromme syndrome and CENPF-related disorders. European Journal of Human Genetics 2019 ;Volume 28. p. 132-136
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13 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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2018
14 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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15 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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2017
16 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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17 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
18 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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19 Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik; Waage, Trine Rygvold; Hoesli, Irene; Schubach, Max; de Beer, Tjaart; Sheng, Ying; Hoeller, Sylvia; Schulzke, Sven; Røsby, Oddveig; Miny, Peter; Tercanli, Sevgi; Oppedal, Truls; Meyer, Peter; Selmer, Kaja Kristine; Strømme, Petter.
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation 2016 ;Volume 37.(4) p. 359-363
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20 Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik; Waage, Trine Rygvold; Hösli, Irene; Schubach, Max; de Beer, Tjaart; Sheng, Ying; Höller, Sylvia; Schulzke, Sven; Røsby, Oddveig; Miny, Peter; Tercanli, Sevgi; Oppedal, Truls; Meyer, Peter; Selmer, Kaja Kristine; Strømme, Petter.
Erratum to: Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation 2016 ;Volume 37.(7) p. 711-711
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21 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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22 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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23 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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24 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
25 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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26 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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27 Hope, Sigrun; Johannessen, Christen Horn; Aanonsen, Nils Olav; Strømme, Petter.
The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway. European Journal of Neurology 2015 ;Volume 23.(51) p. 36-44
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28 Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L.; Rosti, Rasim O.; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S.; Swoboda, Kathryn J.; Milisa-Drautz, Joanne; Dobyns, William B.; Mikati, Mohamed; Incecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L.; D'Arrigo, Stefano; Strømme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A.; Freilinger, Michael; Vaux, Keith K.; Gabriel, Stacey B.; Aza-Blac, Pedro; Heynen, Susanne-Genel; Ideker, Trey; Dynlacht, Brian D.; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; Gleeson, Joseph G..
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLIFE 2015 ;Volume 4.(MAY) p. 1-37
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2014
29 Møller, R.S.; Jensen, L.R.; Maas, S.M.; Filmus, J.; Capurro, M; Hansen, C; Marcelis, Carlo L.M.; Ravn, K.; Andrieux, Joris; Mathieu, M; Kirchhoff, Maria; Rødningen, Olaug Kristin; de Leeuw, n.; Yntema, H.G.; Froyen, Guy; Vandewalle, Joos; Ballon, K; Klopocki, E; Joss, S; Tolmie, J; Knegt, AC; Lund, A. M.; Hjalgrim, H; Kuss, AW; Tommerup, N; Ullmann, R; de Brouwer, A.P.M.; Strømme, Petter; Kjærgaard, S; Tümer, Zeynep; Kleefstra, Tjitske.
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Human Genetics 2014 ;Volume 133.(5) p. 625-638
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30 Strømme, Kirsten Kierulf; Strømme, Petter; Bjertness, Espen; Lien, Lars.
Intrauterine growth restriction: A population-based study of the association with academic performance and psychiatric health. Acta Paediatrica 2014 ;Volume 103.(8) p. 886-891
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31 Wolf, Nicole I.; Vanderver, Adeline; van Spaendonk, R.M.; Schiffmann, Raphael; Brais, B.; Bugiani, Massimiliano; Sistermans, Erik A.; Catsman-Berrevoets, C.; Kros, Johan M.; Pinto, P.S.; Pohl, D; Tirupathi, S.; Strømme, Petter; de Grauw, T.; Fribourg, S.; Demos, M.; Pizzino, A.; Naidu, S; Guerrero, K.; Van der Knaap, M.S.; Bernard, Genevieve.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 2014 ;Volume 83.(21) p. 1898-1905
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2013
32 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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33 Jensen, Vidar; Dervola, KS; Lee, Anee Karin; Hvalby, OC; Roberg, BÅ; Nielsen, MJ; Strømme, Petter.
Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions. Soc. Neurosci.43rd Annual Meeting; 2013-11-09 - 2013-11-14
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34 Lee, AK; Dervola, KS; Jensen, V; Roberg, BÅ; Nielsen, MJ; Strømme, Petter; Hvalby, ØC; Walaas, SI.
Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions. Society for Neuroscience 43rd Annual Meeting; 2013-11-09 - 2013-11-14
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2012
35 Selmer, Kaja Kristine; Gilfillan, Gregor Duncan; Strømme, Petter; Lyle, Robert; Hughes, Timothy; Hjorthaug, Hanne Sagsveen; Brandal, Kristin; Nakken, Sigve; Misceo, Doriana; Egeland, Thore; Munthe, Ludvig Andre; Brækken, Sigrun Kierulf; Undlien, Dag Erik.
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. European Journal of Human Genetics 2012 ;Volume 20.(1) p. 58-63
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36 SLETTEDAL, IMER ØNDER; DAHL, HILDE MARGRETE; Sandvig, Inger; Dalmau, Josep; Strømme, Petter.
Ung jente med psykose, kognitiv svikt og kramper. Tidsskrift for Den norske legeforening 2012 ;Volume 132.(18) p. 2073-2076
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2011
37 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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38 Strømme, Petter; Dobrenis, Kostantin; Sillitoe, Roy V.; Gulinello, Maria; Ali, Nafeeza F.; Davidson, Christin; Micsenyi, Matthew C.; Stephney, Gloria; Ellevog, Linda; Klungland, Arne; Walkley, Steven U..
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. Brain 2011 ;Volume 134. p. 3369-3383
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2010
39 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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40 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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41 Kanavin, Øivind J.; Strømme, Petter.
Barn med nevrodegenerativ sykdom :. Tidsskrift for Den norske legeforening 2010 ;Volume 130.(15) p. 1489-1492
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42 Schroer, RJ; Holden, Kenton R.; Tarpey, Patrick; Matheus, MG; Griesemer, DA; Friez, MJ; Fan, Jane Z.; Simensen, Richard J.; Strømme, Petter; Stevenson, Roger E.; Stratton, Michael R; Schwartz, Charles.
Natural History of Christianson Syndrome. American Journal of Medical Genetics 2010 ;Volume 152A.(11) p. 2775-2783
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43 Strømme, P; Surén, Pål; Kanavin, ØJ; Rootwelt, T; Woldseth, Bente; Abdelnoor, Michael; Magnus, Per.
Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway. European journal of paediatric neurology 2010 ;Volume 14.(2) p. 138-145
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2009
44 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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45 Roxrud, Ingrid; Raiborg, Camilla; Gilfillan, Gregor Duncan; Strømme, Petter; Stenmark, Harald Alfred.
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. Experimental Cell Research 2009 ;Volume 315.(17) p. 3014-3027
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2008
46 Bjurulf, B; Spetalen, S; Erichsen, A; Vanier, MT; Strom, EH; Strømme, Petter.
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: Morphological findings in lung and nervous tissue. Medical Science Monitor 2008 ;Volume 14. p. CS71-CS75
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47 Gilfillan, Gregor Duncan; Selmer, Kaja Kristine; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin Louise; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald Alfred; Sjøholm, Hans; Server, Andres Alonso; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R.; Futreal, P. Andrew; Teague, Jon; Edikins, Sarah; Gecs, Jozef; Turner, Gillian; Raymond, F. Lucy; Schwartz, Charles; Stevenson, Roger E.; Undlien, Dag Erik; Strømme, Petter.
SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. American Journal of Human Genetics 2008 ;Volume 82.(4) p. 1003-1010
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48 Strømme, Petter.
Artistisk kreativitet og Huntingtons sykdom. Tidsskrift for Den norske legeforening 2008 ;Volume 128.(19) p. 2226-2226
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49 Strømme, Petter.
Mental retardasjon. Tidsskrift for Den norske legeforening 2008 ;Volume 128.(7) p. 841-841
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50 Strømme, Petter.
Woody Guthrie and Huntington's Disease. I: The Brain and the Arts. Oslo: Koloritt 2008 ISBN 978-82-92395-64-6. p. 109-111
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