Helge Boman's picture
Helge
Boman
Professor
Visit Address: 
Haukeland universitetssykehus, Laboratoriebygget
5021 Bergen
Postal Address: 
Postboks 7804
5021 Bergen
Phone: 
+47 55 97 54 98
E-mail: 
Helge.Boman@pedi.uib.no
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Journal articles
  • Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche F; Boman, Helge; Knappskog, Per; Bindoff, Laurence. 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 8. 10 pages. doi: 10.1186/1750-1172-8-1
  • Rødahl, Eyvind; Knappskog, Per; Majewski, Jacek; Johansson, Stefan; Telstad, Wenche; Kråkenes, Jostein; Boman, Helge. 2013. Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. American Journal of Ophthalmology. 155: 946-953. doi: 10.1016/j.ajo.2012.11.028
  • Tzoulis, Charalampos; Johansson, Stefan; Haukanes, Bjørn Ivar; Boman, Helge; Knappskog, Per; Bindoff, Laurence. 2013. Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS ONE. 8. 5 pages. doi: 10.1371/journal.pone.0066145
  • Tüysüz, Behayan; Kasapçopur, Özgür; Yalçınkaya, Cengiz; Haşıloğlu, Zehra Işık; Knappskog, Per; Boman, Helge. 2013. Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. Brain & development (Tokyo. 1979). 35: 596-601. doi: 10.1016/j.braindev.2012.08.011
  • Fiskerstrand, Torunn; Arshad, Najla; Haukanes, Bjørn Ivar; Tronstad, Rune Rose; Pham, Khanh Cong Do; Johansson, Stefan; Håvik, Bjarte; Tønder, Siv Lisbeth; Levy, Shawn E.; Brackman, Damien; Boman, Helge; Biswas, Kabir Hassan; Apold, Jaran; Hovdenak, Nils; Visweswariah, Sandhya S.; Knappskog, Per. 2012. Familial diarrhea syndrome caused by an activating GUCY2C mutation. New England Journal of Medicine. 366: 1586-1595. doi: 10.1056/NEJMoa1110132
  • Bredrup, Cecilie; Saunier, Sophie; Oud, Machteld M.; Fiskerstrand, Torunn; Hoischen, Alexander; Brackman, Damien; Leh, Sabine; Midtbø, Marit; Filhol, Emilie; Bole-Feysot, Christine; Nitschke, Patrick; Gilissen, Christian; Haugen, Olav H.; Sanders, Jan-Stephan F.; Stolte-Dijkstra, Irene; Mans, Dorus A.; Steenbergen, Eric J.; Hamel, Ben C.J.; Matignon, Marie; Pfundt, Rolph; Jeanpierre, Cécilie; Boman, Helge; Veltman, Joris A.; Rødahl, Eyvind; Knappskog, Per; Knoers, Nine V.A.M.; Roepman, Ronald; Arts, Heleen .H. 2011. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. American Journal of Human Genetics. 89: 634-643. doi: 10.1016/j.ajhg.2011.10.001
  • Bindoff, Laurence; Fiskerstrand, Torunn; H'mida-Ben Brahim, D; Johansson, S; M'Zahem, A; Haukanes, BI; Drouot, N; Zimmermann, J; Cole, AJ; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, M; Tazir, Meriem; Klockgether, T; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Koenig, Michel; Knappskog, Per Morten. 2010. Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 20: 680-680. doi: 10.1016/j.nmd.2010.07.266
  • Christensen, Anne Elisabeth; Knappskog, Per Morten; Boman, Helge; Rødahl, Eyvind; Fiskerstrand, Torunn. 2010. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Investigative Ophthalmology and Visual Science. 51: 6369-6373. doi: 10.1167/iovs.10-5597
  • Christensen, Anne Elisabeth; Knappskog, Per Morten; Midtbø, Marit; Gjesdal, Clara Gram; Mengel-From, Jonas; Morling, Niels; Rødahl, Eyvind; Boman, Helge. 2010. Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene. Investigative Ophthalmology and Visual Science. 51: 47-52. doi: 10.1167/iovs.09-4251
  • Fiskerstrand, Torunn; Brahim, Dorra H'mida-Ben; Johansson, Stefan; M'Zahem, A; Drouot, Nathalie; Zimmermann, Julian; Cole, Andrew J; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, Mirna; Tazir, Meriem; Klockgether, Thomas; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Bindoff, Laurence; Koenig, Michel; Knappskog, Per Morten; Haukanes, Bjørn Ivar. 2010. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 87: 410-417. doi: 10.1016/j.ajhg.2010.08.002
  • Fiskerstrand, Torunn; Houge, Gunnar; Sund, Ståle; Scheie, David; Leh, Sabine; Boman, Helge; Knappskog, Per Morten. 2010. Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. Journal of Molecular Diagnostics. 12: 125-131. doi: 10.2353/jmoldx.2010.090033
  • Hahn, Angelika F.; Waaler, Per Erik; Kvistad, Per Helge; Bamforth, John S.; Miles, Judith H.; McLeod, James G.; Knappskog, Per Morten; Boman, Helge. 2010. Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases. Journal of the Neurological Sciences. 293: 68-75. doi: 10.1016/j.jns.2010.02.028
  • Sørheim, Jan Inge; Husebye, Eystein Sverre; Nedrebø, Bjørn Gunnar; Svarstad, Einar; Lind, Jonas Anders; Boman, Helge; Løvås, Kristian. 2010. Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia. Hypertension in Pregnancy. 74: 399-405. doi: 10.1159/000303188
  • Yamazaki, Masanori; Kosho, Tomoki; Kawachi, Shigeo; Mikoshiba, Maiko; Takahashi, Jun; Sano, Rena; Oka, Kenji; Yoshida, Kunihiro; Watanabe, Tomoharu; Kato, Hiroyuki; Komatsu, Mitsuhisa; Kawamura, Rie; Wakui, Keiko; Knappskog, Per Morten; Boman, Helge; Fukushima, Yoshimitsu. 2010. Cold-induced sweating syndrome with neonatal features of crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. American Journal of Medical Genetics. 152A: 764-769. doi: 10.1002/ajmg.a.33315
  • Aarsand, Aasne K.; Boman, Helge; Sandberg, Sverre. 2009. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. Clinical Chemistry. 55: 795-803. doi: 10.1373/clinchem.2008.117432
  • Fiskerstrand, Torunn; Knappskog, Per; Majewski, Jacek; Wanders, Ronald J.A.; Boman, Helge; Bindoff, Laurence. 2009. A novel Refsum-like disorder that maps to chromosome 20. Neurology. 72: 20-27. doi: 10.1212/01.wnl.0000333664.90605.23
  • Søvik, Oddmund; Boman, Helge. 2008. Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria. Acta Paediatrica. 97: 665-667. doi: 10.1111/j.1651-2227.2008.00722.x
  • Hahn, AF; Jones, D.L; Knappskog, Per; Boman, Helge; McLeod, James G. 2006. Cold-induced sweating syndrome. A report of two cases and demonstration of genetic heterogeneity. Journal of Neurological Sciences. 250: 62-70.
  • Rousseau, François; Gauchat, Jean-François; McLeod, James G.; Chevalier, Sylvie; Guillet, Catherine; Guilhot, Florence; Cognet, Isabelle; Froger, Josy; Hahn, Angelika F.; Knappskog, Per; Gascan, Hugues; Boman, Helge. 2006. Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. Proceedings of the National Academy of Science of the United States of America. 103: 10068-10073. doi: 10.1073/pnas.0509598103
  • Rødahl, Eyvind; Van Ginderdeuren, Rita; Knappskog, Per; Bredrup, Cecilie; Boman, Helge. 2006. A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. American Journal of Ophthalmology. 142: 520-521. doi: 10.1016/j.ajo.2006.03.064
  • Bredrup, Cecilie; Knappskog, Per; Majewski, Jacek; Rødahl, Eyvind; Boman, Helge. 2005. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology and Visual Science. 46: 420-426.
  • McLeod, JG; Hahn, A; Boman, Helge. 2005. Cold-induced sweating syndrome - a report of two cases. Journal of the Neurological Sciences. 238: S79-S79.
  • Kvistad, Per Helge; Løvås, Kristian; Boman, Helge; Myking, Ole. 2004. Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation. European Journal of Endocrinology. 150: 425-430.
  • Boman, Helge. 1999. Reaksjoner på genetisk testing. Tidsskrift for Den norske legeforening. 119: S. 1867.
  • Bruland, Ove; Almquist, EW; Goldberg, YP; Boman, Helge; Hayden, MR; Knappskog, PM. 1999. Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard. Clinical Genetics. 55: 198-202.
  • Eiken, Hans Geir; Odland, E; Boman, Helge; Skjelkvåle, L; Engebretsen, LF; Apold, Jaran. 1991. Application of natural and and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Research. 19: 1427-1430.
Book sections
  • Rødahl, Eyvind; Christensen, Anne Elisabeth; Fiskerstrand, Torunn; Knappskog, Per; Boman, Helge. 2012. ADAMTSL4-Related Eye Disorders Includes: Autosomal Recessive Isolated Ectopia Lentis, Ectopia Lentis et Pupillae. -. In:
    • Pagon, RA; Bird, TD; Dolan, CR. 2012. GeneReviews™ [Internet]. University of Washington, Seattle.
  • Boman, Helge. 1999. Medisinsk genetikk. 451-462. In:
    • Gjerstad, L; Skjeldal, OH. 1999. Nevrologi. Fra barn til voksen. Undersøkelse - diagnose - behandling.

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