Human Genetics, 1432-1203

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  1. 2019
  2. Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus

    Almlöf, J. C., Nystedt, S., Leonard, D., Eloranta, M. L., Grosso, G., Sjöwall, C., Anders A. Bengtsson, Andreas Jönsen, Gunnarsson, I., Svenungsson, E., Rönnblom, L., Sandling, J. K. & Syvänen, A. C., 2019, In : Human Genetics. 138, 2, p. 141–150

    Research output: Contribution to journalArticle

  3. 2017
  4. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    Depienne, C., Nava, C., Keren, B., Heide, S., Rastetter, A., Passemard, S., Chantot-Bastaraud, S., Moutard, M. L., Agrawal, P. B., VanNoy, G., Stoler, J. M., Amor, D. J., Billette de Villemeur, T., Doummar, D., Alby, C., Cormier-Daire, V., Garel, C., Marzin, P., Scheidecker, S., de Saint-Martin, A. & 31 othersHirsch, E., Korff, C., Bottani, A., Faivre, L., Verloes, A., Orzechowski, C., Burglen, L., Leheup, B., Roume, J., Andrieux, J., Sheth, F., Datar, C., Parker, M. J., Pasquier, L., Odent, S., Naudion, S., Delrue, M. A., Le Caignec, C., Vincent, M., Isidor, B., Renaldo, F., Stewart, F., Toutain, A., Koehler, U., Häckl, B., von Stülpnagel, C., Kluger, G., Møller, R. S., Tord Jonson, Soller, M. & DDD Study, 2017, In : Human Genetics. 136, 4, p. 463-479 17 p.

    Research output: Contribution to journalArticle

  5. 2016
  6. Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

    Yang, X. R., Rotunno, M., Xiao, Y., Ingvar, C., Helgadottir, H., Pastorino, L., van Doorn, R., Bennett, H., Graham, C., Sampson, J. N., Malasky, M., Vogt, A., Zhu, B., Bianchi-Scarra, G., Bruno, W., Queirolo, P., Fornarini, G., Hansson, J., Tuominen, R., Burdett, L. & 12 othersHicks, B., Hutchinson, A., Jones, K., Yeager, M., Chanock, S. J., Landi, M. T., Höiom, V., Håkan Olsson, Gruis, N., Ghiorzo, P., Tucker, M. A. & Goldstein, A. M., 2016, In : Human Genetics. 135, 11, p. 1241-1249 9 p.

    Research output: Contribution to journalArticle

  7. 2015
  8. Types and effects of protein variations.

    Mauno Vihinen, 2015, In : Human Genetics. 134, 4, p. 405-421

    Research output: Contribution to journalArticle

  9. 2014
  10. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

    Fernandez-Rozadilla, C., Cazier, J. B., Tomlinson, I., Brea-Fernandez, A., Lamas, M. J., Baiget, M., Lopez-Fernandez, L. A., Clofent, J., Bujanda, L., Gonzalez, D., de Castro, L., Hemminki, K., Bessa, X., Andreu, M., Jover, R., Xicola, R., Llor, X., Moreno, V., Castells, A., Castellvi-Bel, S. & 2 othersCarracedo, A. & Ruiz-Ponte, C., 2014, In : Human Genetics. 133, 5, p. 525-534

    Research output: Contribution to journalArticle

  11. 2013
  12. Genome-wide investigation of gene-environment interactions in colorectal cancer

    Siegert, S., Hampe, J., Schafmayer, C., von Schoenfels, W., Egberts, J-H., Asta Försti, Chen, B., Lascorz, J., Kari Hemminki, Franke, A., Nothnagel, M., Noethlings, U. & Krawczak, M., 2013, In : Human Genetics. 132, 2, p. 219-231

    Research output: Contribution to journalArticle

  13. 2011
  14. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

    Im, K. M., Kirchhoff, T., Wang, X., Green, T., Chow, C. Y., Vijai, J., Korn, J., Gaudet, M. M., Fredericksen, Z., Shane Pankratz, V., Guiducci, C., Crenshaw, A., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Mai, P. L., Greene, M. H., Piedmonte, M. & 31 othersRubinstein, W. S., Hogervorst, F. B., Rookus, M. A., Collée, J. M., Hoogerbrugge, N., van Asperen, C. J., Meijers-Heijboer, H. E. J., Van Roozendaal, C. E., Caldes, T., Perez-Segura, P., Jakubowska, A., Lubinski, J., Huzarski, T., Blecharz, P., Nevanlinna, H., Aittomäki, K., Lazaro, C., Blanco, I., Barkardottir, R. B., Montagna, M., D'Andrea, E., Devilee, P., Olopade, O. I., Neuhausen, S. L., Peissel, B., Bonanni, B., Peterlongo, P., Singer, C. F., Rennert, G., Daly, M. J. & HEBON, 2011 Nov, In : Human Genetics. 130, 5, p. 685-99 15 p.

    Research output: Contribution to journalArticle

  15. 2005
  16. Book review: Genetic predisposition of cancer, 2nd ed.

    Ulf Kristoffersson, 2005, In : Human Genetics. 117, 4, p. 406-407

    Research output: Contribution to journalReview (Book/Film/Exhibition/etc.)

  17. 2003
  18. Several interacting genes influence the malignant hyperthermia phenotype

    Robinson, R., Hopkins, P., Carsana, A., Gilly, H., Halsall, J., Heytens, L., Gunilla Islander, Jurkat-Rott, K., Muller, C. & Shaw, MA., 2003, In : Human Genetics. 112, 2, p. 217-218

    Research output: Contribution to journalArticle

  19. 2002
  20. A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes

    Rozenblum, E., Vahteristo, P., Törngren, T., Bergthorsson, JT., Syrjakoski, K., Weaver, D., Haraldsson, K., Johannsdottir, HK., Vehmanen, P., Nigam, S., Golberger, N., Robbins, C., Pak, E., Dutra, A., Gillander, E., Stephan, DA., Bailey-Wilson, J., Juo, SHH., Kainu, T., Arason, A. & 4 othersBarkardottir, RB., Nevanlinna, H., Åke Borg & Kallioniemi, OP., 2002, In : Human Genetics. 110, 2, p. 111-121

    Research output: Contribution to journalArticle

  21. 2001
  22. Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

    Grigelioniene, G., Schoumans, J., Neumeyer, L., Sten Ivarsson, Eklof, O., Enkvist, O., Tordai, P., Fosdal, I., Myhre, A., Westphal, O., Nilsson, N., Maria Elfving, Ellis, I., Anderlid, B-M., Fransson, I., Tapia-Paez, I., Nordenskjold, M., Hagenas, L. & Dumanski, J. P., 2001, In : Human Genetics. 109, 5, p. 551-558

    Research output: Contribution to journalArticle

  23. 2000
  24. Molecular genetic analysis of severe protein C deficiency

    Millar, D. S., Johansen, B., Erik Berntorp, Minford, A., Bolton-Maggs, P., Wensley, R., Kakkar, V., Schulman, S., Torres, A., Bosch, N. & Cooper, D. N., 2000, In : Human Genetics. 106, 6, p. 646-653

    Research output: Contribution to journalArticle

  25. 1999
  26. The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells

    David Gisselsson Nord, Mattias Höglund, Fredrik Mertens, Bertil Johansson, Dal Cin, P., Van den Berghe, H., Earnshaw, W. C., Felix Mitelman & Nils Mandahl, 1999, In : Human Genetics. 104, 4, p. 315-325

    Research output: Contribution to journalArticle

  27. 1998
  28. Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome

    Yvonne Lundberg Giwercman, Nikoshkov, A., Lindsten, K., Byström, B., Pousette, A., Chibalin, A. V., Arvidsson, S., Tiulpakov, A., Semitcheva, T. V., Peterkova, V., Hagenfeldt, K., Ritzén, E. M. & Wedell, A., 1998 Dec 9, In : Human Genetics. 103, 4, p. 529-531

    Research output: Contribution to journalArticle

  29. A 50-year perspective of a family with chromosome 14-linked Alzheimer’s disease

    Lars Gustafson, Arne Brun, Hagnell, O., Nilsson, K., Stensmyr, M., Öhlin, A-K., Magnus Abrahamson & Elisabet Englund, 1998, In : Human Genetics. 102, 3, p. 253-257

    Research output: Contribution to journalArticle

  30. 1997
  31. Clonal chromosome aberrations are present in vivo in synovia and osteophytes from patients with osteoarthritis

    Broberg, K., Limon, J., Pålsson, E., Lindstrand, A., S Toksvig-Larsen, N Mandahl & F Mertens, 1997 Dec, In : Human Genetics. 101, 3, p. 295-8 4 p.

    Research output: Contribution to journalArticle

  32. A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction

    Lajic, S., Levo, A., Nikoshkov, A., Y Lundberg, Partanen, J. & Wedell, A., 1997 Jun, In : Human Genetics. 99, 6, p. 704-9 6 p.

    Research output: Contribution to journalArticle

  33. 1995
  34. 1993
  35. A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level

    Balbin, M., Freije, J. P., Magnus Abrahamson, Velasco, G., Anders Grubb & Lopez-Otin, C., 1993, In : Human Genetics. 90, 6, p. 668-669

    Research output: Contribution to journalArticle

  36. 1992
  37. Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden

    Montandon, A. J., Green, P. M., Bentley, D. R., R. Ljung, Kling, S., Nilsson, I. M. & Giannelli, F., 1992 May, In : Human Genetics. 89, 3, p. 319-322 4 p.

    Research output: Contribution to journalArticle

  38. Further characterization of the new marker at DXS115 with regard to carrier detection in hemophilia A

    Kling, S., Rolf Ljung, Sjörin, E. & Nilsson, I. M., 1992 Feb, In : Human Genetics. 88, 4, p. 484-485

    Research output: Contribution to journalLetter

  39. A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene

    Balbin, M., Magnus Abrahamson, Lars Gustafson, Nilsson, K., Arne Brun & Anders Grubb, 1992, In : Human Genetics. 89, 5, p. 580-582

    Research output: Contribution to journalArticle

  40. PCR assay for a polymorphic Dde I site in the promoter region of the human cystatin C gene (CST3)

    Balbin, M. & Magnus Abrahamson, 1992, In : Human Genetics. 88, 6, p. 710

    Research output: Contribution to journalArticle

  41. 1991
  42. Sst II polymorphic sites in the promoter region of the human cystatin C gene

    Balbin, M. & Magnus Abrahamson, 1991, In : Human Genetics. 87, 6, p. 751-752

    Research output: Contribution to journalArticle

  43. 1990
  44. Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD)

    Montandon, A. J., Green, P. M., Bentley, D. R., R Ljung, Nilsson, I. M. & Giannelli, F., 1990 Jul, In : Human Genetics. 85, 2, p. 200-4

    Research output: Contribution to journalArticle

  45. 1989
  46. The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20

    Magnus Abrahamson, Islam, M. Q., Szpirer, J., Szpirer, C. & Levan, G., 1989, In : Human Genetics. 82, 3, p. 223-226

    Research output: Contribution to journalArticle

  47. 1984
  48. First-trimester diagnosis on chorionic villi obtained by direct vision technique

    Gustavii, B., Chester, A., Edvall, H., Iosif, S., Ulf Kristoffersson, Löfberg, L., Mineur, A. & Felix Mitelman, 1984, In : Human Genetics. 65, 4, p. 373-376

    Research output: Contribution to journalArticle

  49. 1979
  50. Chromosome aberrations in psoriatic patients treated with arsenic

    Nordenson, I., Salmonsson, S., E Brun & Beckman, G., 1979 Apr 17, In : Human Genetics. 48, 1, p. 1-6 6 p.

    Research output: Contribution to journalArticle