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Page 1
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL. Wijmenga C, et al. Among authors: bjorck ej. Hum Mutat. 2000 Dec;16(6):509-17. doi: 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V. Hum Mutat. 2000. PMID: 11102980 Review.
Early prenatal diagnosis of the ICF syndrome.
Björck EJ, Bui TH, Wijmenga C, Grandell U, Nordenskjöld M. Björck EJ, et al. Prenat Diagn. 2000 Oct;20(10):828-31. doi: 10.1002/1097-0223(200010)20:10<828::aid-pd907>3.0.co;2-b. Prenat Diagn. 2000. PMID: 11038463
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Björck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomäki K, Aaltonen LA, Launonen V, Lehtonen R. Vahteristo P, et al. Fam Cancer. 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2. Fam Cancer. 2010. PMID: 20091131
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Hoornaert KP, et al. Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179744 Free PMC article.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium; Byers PH, Zschocke J. Kapferer-Seebacher I, et al. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745832 Free PMC article.
The genetic basis of pachyonychia congenita.
Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van Steensel MA, Björck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH. Smith FJ, et al. J Investig Dermatol Symp Proc. 2005 Oct;10(1):21-30. doi: 10.1111/j.1087-0024.2005.10204.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250206 Free article. Review.
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
Lagerstedt-Robinson K, Baranowska Körberg I, Tsiaprazis S, Björck E, Tham E, Poluha A, Hellström Pigg M, Paulsson-Karlsson Y, Nordenskjöld M, Johansson-Soller M, Aravidis C. Lagerstedt-Robinson K, et al. PLoS One. 2022 Feb 17;17(2):e0264056. doi: 10.1371/journal.pone.0264056. eCollection 2022. PLoS One. 2022. PMID: 35176117 Free PMC article.
54 results