Petter Strømme

Bilde av Petter Strømme
English version of this page
Brukernavn
Besøksadresse Ullevål sykehus Barnesenteret
Postadresse Postboks 4956 Nydalen OUS, Ullevål 0424 Oslo

Faglige interesser

Barnenevrologisk epidemiologi, genetiske syndromer og årsaker til psykisk utviklingshemming (mental retardasjon), nevrodegenerative sykdommer og nevrovitenskap.

Bakgrunn

  • Professor i pediatri (2002)
  • Doktorgrad "Epidemiological, genetic and neurological aspects of mental retardation a Norwegian population-based study of children born between 1980 and 1985" (2000)
  • Spesialist i pediatri  (1985)
  • Sideutdannelse i nevrologi fra Tromsø og Rikshospitalet.

Verv

Leder, NERVOUS forskningsgruppe, Avdeling for nevrofag, Kvinne- og barneklinikken
Leder, universitetsenheten, Kvinne- og barneklinikken avdeling, OUS, Ullevål

Samarbeid

Avdeling for medisinsk genetikk, UiO; Department of Genetics, Women's and Children's Hospital, Adelaide, Australia; Department of Neuroscience, Albert Einstein College of Medicine, New York, USA. 

Emneord: Epidemiologi, Psykisk utviklingshemming, Genetikk

Publikasjoner

  • Cherik, Florian; Reilly, Jack; Kerkhof, Jennifer; Levy, Michael; McConkey, Haley & Barat-Houari, Mouna [Vis alle 34 forfattere av denne artikkelen] (2022). DNA methylation episignature in Gabriele-de Vries syndrome. Genetics in Medicine. ISSN 1098-3600. 24(4), s. 905–914. doi: 10.1016/j.gim.2021.12.003.
  • Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan & Tran, Luan T. [Vis alle 119 forfattere av denne artikkelen] (2021). Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 106(2), s. E660–E674. doi: 10.1210/clinem/dgaa700. Fulltekst i vitenarkiv
  • Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Einarsen, Ingunn Holm; Bjørndalen, Hilde & Server, Andrés [Vis alle 10 forfattere av denne artikkelen] (2020). 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. ISSN 1471-2350. 21:96, s. 1–6. doi: 10.1186/s12881-020-01024-y. Fulltekst i vitenarkiv
  • Sumathipala, Dulika Sanjeewani; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H. & Frengen, Eirik [Vis alle 7 forfattere av denne artikkelen] (2020). A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1. Clinical Dysmorphology. ISSN 0962-8827. 29(2), s. 107–110. doi: 10.1097/MCD.0000000000000314.
  • Epting, Daniel; Senaratne, Lokuliyanage Dona Samudita; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika Sanjeewani & Larsen, Selma Mujezinovic [Vis alle 30 forfattere av denne artikkelen] (2020). Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. . Human Mutation. ISSN 1059-7794. s. 1–16. doi: 10.1002/humu.24127. Fulltekst i vitenarkiv
  • Bjurulf, Bjørn; Magnus, Per; Hallböök, Tove & Strømme, Petter (2019). Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study. Developmental Medicine & Child Neurology. ISSN 0012-1622. 62(1), s. 57–61. doi: 10.1111/dmcn.14393.
  • Filges, Isabel & Strømme, Petter (2019). CUGC for Stromme syndrome and CENPF-related disorders. European Journal of Human Genetics. ISSN 1018-4813. 28, s. 132–136. doi: 10.1038/s41431-019-0498-y. Fulltekst i vitenarkiv
  • Strømme, Petter; Groeneweg, Stefan; Lima de Souza, Elaine C.; Zevenbergen, Chantal; Torgersbråten, Anette & Holmgren, Asbjørn [Vis alle 17 forfattere av denne artikkelen] (2018). Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration. Thyroid. ISSN 1050-7256. 28(11), s. 1406–1415. doi: 10.1089/thy.2018.0595. Fulltekst i vitenarkiv
  • Kotlarz, Daniel; Marquardt, Benjamin; Barøy, Tuva; Lee, Way S.; Konnikova, Liza & Hollizeck, Sebastian [Vis alle 24 forfattere av denne artikkelen] (2018). Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics. ISSN 1061-4036. 50(3), s. 344–348. doi: 10.1038/s41588-018-0063-6. Fulltekst i vitenarkiv
  • Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan & Hu, Chun [Vis alle 75 forfattere av denne artikkelen] (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. Fulltekst i vitenarkiv
  • Gabriele, Michele; Vulto-van Silfhout, Anneke T.; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman & Douglas, Evelyn [Vis alle 51 forfattere av denne artikkelen] (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. Fulltekst i vitenarkiv
  • Skauli, Nadia; Wallace, Sean Ciaran; Chiang, Samuel C.C.; Barøy, Tuva; Holmgren, Asbjørn & Stray-Pedersen, Asbjørg [Vis alle 10 forfattere av denne artikkelen] (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.
  • Pedurupillay Jesuthasan, Christeen Ramane; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rasmussen, Magnhild; Blomhoff, Anne & Stadheim, Barbro [Vis alle 12 forfattere av denne artikkelen] (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.
  • Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schutz, Hannah & Hentschel, Julia [Vis alle 58 forfattere av denne artikkelen] (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; Landsend, Erlend Christoffer Sommer; Vigeland, Magnus Dehli; Ansar, Muhammad; Frengen, Eirik & Misceo, Doriana [Vis alle 7 forfattere av denne artikkelen] (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.
  • Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik & Waage, Trine Rygvold [Vis alle 19 forfattere av denne artikkelen] (2016). Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation. ISSN 1059-7794. 37(4), s. 359–363. doi: 10.1002/humu.22960.
  • Barøy, Tuva; Pedurupillay Jesuthasan, Christeen Ramane; Bliksrud, Yngve Thomas; Rasmussen, Magnhild; Holmgren, Asbjørn & Vigeland, Magnus Dehli [Vis alle 13 forfattere av denne artikkelen] (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.
  • Hope, Sigrun; Johannessen, Christen Horn; Aanonsen, Nils Olav & Strømme, Petter (2015). The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway. European Journal of Neurology. ISSN 1351-5101. 23(51), s. 36–44. doi: 10.1111/ene.12884.
  • Barøy, Tuva; Koster, Janet; Strømme, Petter; Ebberink, Merel S.; Misceo, Doriana & Ferdinandusse, Sacha [Vis alle 18 forfattere av denne artikkelen] (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.
  • Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett & Romani, Marta [Vis alle 44 forfattere av denne artikkelen] (2015). Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLIFE. ISSN 2050-084X. 4(MAY), s. 1–37. doi: 10.7554/eLife.06602.
  • Christeen Ramane, Pedurupillay Jesuthasan; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus Dehli & Sheng, Ying [Vis alle 9 forfattere av denne artikkelen] (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.
  • Wolf, Nicole I.; Vanderver, Adeline; van Spaendonk, R.M.; Schiffmann, Raphael; Brais, B. & Bugiani, Massimiliano [Vis alle 21 forfattere av denne artikkelen] (2014). Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. ISSN 0028-3878. 83(21), s. 1898–1905. doi: 10.1212/WNL.0000000000001002.
  • Strømme, Kirsten Kierulf; Strømme, Petter; Bjertness, Espen & Lien, Lars (2014). Intrauterine growth restriction: A population-based study of the association with academic performance and psychiatric health. Acta Paediatrica. ISSN 0803-5253. 103(8), s. 886–891. doi: 10.1111/apa.12657.
  • Møller, R.S.; Jensen, L.R.; Maas, S.M.; Filmus, J.; Capurro, M & Hansen, C [Vis alle 31 forfattere av denne artikkelen] (2014). X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Human Genetics. ISSN 0340-6717. 133(5), s. 625–638. doi: 10.1007/s00439-013-1403-3.
  • Barøy, Tuva; Misceo, Doriana; Strømme, Petter; Stray-Pedersen, Asbjørg; Holmgren, Asbjørn & Rødningen, Olaug Kristin [Vis alle 12 forfattere av denne artikkelen] (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.
  • Selmer, Kaja Kristine; Gilfillan, Gregor Duncan; Strømme, Petter; Lyle, Robert; Hughes, Timothy & Hjorthaug, Hanne Sagsveen [Vis alle 13 forfattere av denne artikkelen] (2012). A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. European Journal of Human Genetics. ISSN 1018-4813. 20(1), s. 58–63. doi: 10.1038/ejhg.2011.126.
  • Strømme, Petter; Dobrenis, Kostantin; Sillitoe, Roy V.; Gulinello, Maria; Ali, Nafeeza F. & Davidson, Christin [Vis alle 11 forfattere av denne artikkelen] (2011). X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. Brain. ISSN 0006-8950. 134, s. 3369–3383. doi: 10.1093/brain/awr250.
  • Misceo, Doriana; Rødningen, Olaug Kristin; Barøy, Tuva; Sorte, Hanne Sørmo; Mellembakken, Jan Roar & Strømme, Petter [Vis alle 8 forfattere av denne artikkelen] (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.
  • Schroer, RJ; Holden, Kenton R.; Tarpey, Patrick; Matheus, MG; Griesemer, DA & Friez, MJ [Vis alle 12 forfattere av denne artikkelen] (2010). Natural History of Christianson Syndrome. American Journal of Medical Genetics. ISSN 0148-7299. 152A(11), s. 2775–2783. doi: 10.1002/ajmg.a.33093.
  • Strømme, P; Surén, Pål; Kanavin, ØJ; Rootwelt, T; Woldseth, Bente & Abdelnoor, Michael [Vis alle 7 forfattere av denne artikkelen] (2010). Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway. European journal of paediatric neurology. ISSN 1090-3798. 14(2), s. 138–145. doi: 10.1016/j.ejpn.2009.03.007.
  • Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Helle, Johan Robert; Fannemel, Madeleine & Strømme, Petter [Vis alle 7 forfattere av denne artikkelen] (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.
  • Roxrud, Ingrid; Raiborg, Camilla; Gilfillan, Gregor Duncan; Strømme, Petter & Stenmark, Harald Alfred (2009). Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. Experimental Cell Research. ISSN 0014-4827. 315(17), s. 3014–3027. doi: 10.1016/j.yexcr.2009.07.012.
  • Misceo, Doriana; Fannemel, Madeleine; Barøy, Tuva; Roberto, Roberta; Tvedt, B & Jaeger, T [Vis alle 9 forfattere av denne artikkelen] (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.
  • Gilfillan, Gregor Duncan; Selmer, Kaja Kristine; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten & Eiklid, Kristin Louise [Vis alle 27 forfattere av denne artikkelen] (2008). SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. American Journal of Human Genetics. ISSN 0002-9297. 82(4), s. 1003–1010. doi: 10.1016/j.ajhg.2008.01.013..
  • Strømme, Petter; Magnus, Per; Kanavin, Øivind J.; Rootwelt, Terje; Woldseth, Berit & Abdelnoor, Michael (2008). Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study. Acta Paediatrica. ISSN 0803-5253. 97(1), s. 35–40. doi: 10.1111/j.1651-2227.2007.00579.x.
  • Bjurulf, B; Spetalen, S; Erichsen, A; Vanier, MT; Strom, EH & Strømme, Petter (2008). Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: Morphological findings in lung and nervous tissue. Medical Science Monitor. ISSN 1234-1010. 14, s. CS71–CS75.
  • Kanavin, Øivind Juris; Woldseth, Berit; Jellum, Egil; Tvedt, Bjørn; Andresen, Brage S & Strømme, Petter (2007). 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. Journal of Medical Case Reports. ISSN 1752-1947.
  • Strømme, Petter; Kanavin, Øivind Juris; Abdelnoor, Michael; Woldseth, Berit; Rootwelt, Terje & Diderichsen, Jørgen [Vis alle 9 forfattere av denne artikkelen] (2007). Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study. BMC Pediatrics. ISSN 1471-2431. 7. doi: 10.1186/1471-2431-7-25.
  • Kleppa, Liv; Kanavin, Øivind Juris; Klungland, Arne & Strømme, Petter (2007). A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. ISSN 0306-4522. 4, s. 1397–1406. doi: 10.1016/j.neuroscience.2006.09.025.
  • Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde; Ormerod, Eli; Strømme, Petter & Lazarou, Lazarous P [Vis alle 9 forfattere av denne artikkelen] (2007). Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. American Journal of Medical Genetics. ISSN 0148-7299. 143(13), s. 1510–1513.
  • Kleppa, Liv; Kanavin, Ø.J; Klungland, Arne & Strømme, Petter (2006). A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. ISSN 0306-4522. doi: 10.1016/j.neuroscience.
  • Strømme, Petter; Hagen, Carl Birger van der; Haakonsen, Monica; Risberg, Knut & Hennekam, Raoul (2005). Follow-up of a girl with cleft lip and palate and multiple malformations: Trisomy 20 mosaicism. Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery. ISSN 0284-4311. 39, s. 178–179.
  • Matlary, Arpad; Prescott, Trine; Tvedt, B; Lindberg, Knut; Server, Andres Alonso & Aicardi, Jean [Vis alle 7 forfattere av denne artikkelen] (2004). Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. Clinical Dysmorphology. ISSN 0962-8827. 13(4), s. 257–260.
  • Strømme, Petter; Sundet, Kjetil Søren; Mørk, Cato; Cassiman, J-J.; Fryns, J-P. & Claes, S. (1999). X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. Journal of Medical Genetics. ISSN 0022-2593. 36(5), s. 374–378.

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  • Strømme, Petter (2021). Sint nikkedukke – nevrologisk syndrom i en kriminalroman. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 141(5), s. 1–8. doi: 10.4045/tidsskr.20.0729.
  • Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Corominas, Jordi; Frengen, Eirik & Misceo, Doriana (2019). 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. ISSN 0887-8994. 96, s. 74–75. doi: 10.1016/j.pediatrneurol.2019.02.001.
  • Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik & Waage, Trine Rygvold [Vis alle 19 forfattere av denne artikkelen] (2016). Erratum to: Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation. ISSN 1059-7794. 37(7), s. 711–711. doi: 10.1002/humu.22997.
  • Lee, AK; Dervola, KS; Jensen, V; Roberg, BÅ; Nielsen, MJ & Strømme, Petter [Vis alle 8 forfattere av denne artikkelen] (2013). Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions.
  • Jensen, Vidar; Dervola, KS; Lee, Anee Karin; Hvalby, OC; Roberg, BÅ & Nielsen, MJ [Vis alle 7 forfattere av denne artikkelen] (2013). Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions.
  • SLETTEDAL, IMER ØNDER; DAHL, HILDE MARGRETE; Sandvig, Inger; Dalmau, Josep & Strømme, Petter (2012). Ung jente med psykose, kognitiv svikt og kramper. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 132(18), s. 2073–2076. doi: 10.4045/tidsskr.12.0092.
  • Barøy, Tuva; Misceo, Doriana; Fannemel, Madeleine; Stormyr, Alice; Rødningen, Olaug Kristin & Helle, Johan Robert [Vis alle 12 forfattere av denne artikkelen] (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?
  • Kanavin, Øivind J. & Strømme, Petter (2010). Barn med nevrodegenerativ sykdom :. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 130(15), s. 1489–1492.
  • Strømme, Petter (2008). Mental retardasjon. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 128(7), s. 841–841.
  • Strømme, Petter (2008). Artistisk kreativitet og Huntingtons sykdom. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 128(19), s. 2226–2226.
  • Strømme, Petter (2008). Writings by parents. Literary descriptions of mentally handicapped children. I Dietrichs, Espen & Stien, Ragnar (Red.), The Brain and the Arts. Koloritt . ISSN 978-82-92395-64-6. s. 171–180.
  • Strømme, Petter (2008). Woody Guthrie and Huntington's Disease. I Dietrichs, Espen & Stien, Ragnar (Red.), The Brain and the Arts. Koloritt . ISSN 978-82-92395-64-6. s. 109–111.

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Publisert 13. apr. 2011 11:45 - Sist endret 27. mai 2011 12:02