X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.
Published in Human genetics (01.05.2014)
Published in Human genetics (01.05.2014)
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A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism
Misceo, D., Rødningen, O.K., Barøy, T., Sorte, H., Mellembakken, J.R., Strømme, P., Fannemel, M., Frengen, E.
Published in American journal of medical genetics. Part A (01.02.2011)
Published in American journal of medical genetics. Part A (01.02.2011)
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Journal Article
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Misceo, D., Fannemel, M., Barøy, T., Roberto, R., Tvedt, B., Jæger, T., Bryn, V., Strømme, P., Frengen, E.
Published in Neurogenetics (01.10.2009)
Published in Neurogenetics (01.10.2009)
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Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway
Strømme, P, Suren, P, Kanavin, Ø.J, Rootwelt, T, Woldseth, B, Abdelnoor, M, Magnus, P
Published in European journal of paediatric neurology (01.03.2010)
Published in European journal of paediatric neurology (01.03.2010)
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Journal Article
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
Strømme, P, Bakke, S J, Dahl, A, Gécz, J
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2003)
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2003)
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Aetiology in severe and mild mental retardation: a population-based study of Norwegian children
Strømme, Petter, Hagberg, Gudrun
Published in Developmental medicine and child neurology (01.02.2000)
Published in Developmental medicine and child neurology (01.02.2000)
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Journal Article
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
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, Høneren Johansson, Linda, Babovic, Almira, Zetterberg, Henrik, Heuer, Heike, Frengen, Eirik, Misceo, Doriana, Visser, Theo J
Published in Thyroid (New York, N.Y.) (01.11.2018)
Published in Thyroid (New York, N.Y.) (01.11.2018)
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X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX
Scheffer, Ingrid E, Wallace, R H, Phillips, F L, Hewson, P, Reardon, K, Parasivam, G, Stromme, P, Berkovic, S F, Gecz, J, Mulley, J C
Published in Neurology (13.08.2002)
Published in Neurology (13.08.2002)
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Encephaloneuropathy with lysosomal zebra bodies and GM2 ganglioside storage
Strømme, Peter, Månsson, Jan-Eric, Scott, Helge, Skullerud, Kari, Hovig, Torstein
Published in Pediatric neurology (01.02.1997)
Published in Pediatric neurology (01.02.1997)
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