Petter Strømme

• Selmer, Kaja Kristine; Gilfillan, Gregor Duncan; Strømme, Petter; Lyle, Robert; Hughes, Timothy; Hjorthaug, Hanne Sagsveen; Brandal, Kristin et al. (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
• Misceo, Doriana; Rødningen, Olaug Kristin; Barøy, Tuva; Sorte, Hanne Sørmo; Mellembakken, Jan Roar; Strømme, Petter; Fannemel, Madeleine et al. (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
• Strømme, Petter; Dobrenis, Kostantin; Sillitoe, Roy V.; Gulinello, Maria; Ali, Nafeeza F.; Davidson, Christin; Micsenyi, Matthew C. et al. (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
• 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
• Schroer, RJ; Holden, Kenton R.; Tarpey, Patrick; Matheus, MG; Griesemer, DA; Friez, MJ; Fan, Jane Z. et al. (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 & Magnus, Per (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
• Misceo, Doriana; Fannemel, Madeleine; Barøy, Tuva; Roberto, Roberta; Tvedt, B; Jaeger, T; Bryn, V et al. (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
• 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
• 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
• Gilfillan, Gregor Duncan; Selmer, Kaja Kristine; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin Louise; Kroken, Mette et al. (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
• 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.
• 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
• Strømme, Petter; Kanavin, Øivind Juris; Abdelnoor, Michael; Woldseth, Berit; Rootwelt, Terje; Diderichsen, Jørgen; Bjurulf, Bjørn et al. (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
• Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde; Ormerod, Eli; Strømme, Petter; Lazarou, Lazarous P; Rosser, Lyndon G et al. (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 & Strømme, Petter (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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• Barøy, Tuva; Misceo, Doriana; Fannemel, Madeleine; Stormyr, Alice; Rødningen, Olaug Kristin; Helle, Johan Robert; Braaten, Øivind et al. (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). Artistisk kreativitet og Huntingtons sykdom. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  128(19), s 2226- 2226
• Strømme, Petter (2008). Mental retardasjon. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  128(7), s 841- 841
• Strømme, Petter (2008). Woody Guthrie and Huntington's Disease, In Espen Dietrichs & Ragnar Stien (ed.),  The Brain and the Arts.  Koloritt.  ISBN 978-82-92395-64-6.  6.  s 109 - 111
• Strømme, Petter (2008). Writings by parents. Literary descriptions of mentally handicapped children, In Espen Dietrichs & Ragnar Stien (ed.),  The Brain and the Arts.  Koloritt.  ISBN 978-82-92395-64-6.  11.  s 171 - 180

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