Journal of Medical Genetics, 0022-2593

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  1. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

    Clendenning, M., Senter, L., Hampel, H., Lagerstedt Robinson, K., Sun, S., Buchanan, D., Walsh, M. D., Mef Nilbert, Green, J., Potter, J., Lindblom, A. & de la Chapelle, A., 2008, In : Journal of Medical Genetics. 45, 6, p. 340-345

    Research output: Contribution to journalArticle

  2. A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation

    Dalgaard, M. D., Weinhold, N., Edsgard, D., Silver, J. D., Pers, T. H., Nielsen, J. E., Jorgensen, N., Juul, A., Gerds, T. A., Giwercman, A., Giwercman, Y., Cohn-Cedermark, G., Virtanen, H. E., Toppari, J., Daugaard, G., Jensen, T. S., Brunak, S., Rajpert-De Meyts, E., Skakkebk, N. E., Leffers, H. & 1 others, Gupta, R., 2012, In : Journal of Medical Genetics. 49, 1, p. 58-65

    Research output: Contribution to journalArticle

  3. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: An ENIGMA report

    Lopez-Perolio, I., Leman, R., Behar, R., Lattimore, V., Pearson, J. F., Castéra, L., Martins, A., Vaur, D., Goardon, N., Davy, G., Garre, P., García-Barberán, V., Llovet, P., Pérez-Segura, P., Díaz-Rubio, E., Caldés, T., Hruska, K. S., Hsuan, V., Wu, S., Pesaran, T. & 14 others, Karam, R., Johan Vallon-Christersson, Ake Borg, Investigators, K., Valenzuela-Palomo, A., Velasco, E. A., Southey, M., Vreeswijk, M. P. G., Devilee, P., Anders Kvist, Spurdle, A. B., Walker, L. C., Krieger, S. & De La Hoya, M., 2019, In : Journal of Medical Genetics. 56, 7, p. 453-460

    Research output: Contribution to journalArticle

  4. A male-specific quantitative trait locus on 1p21 controlling human stature

    Sammalisto, S., Hiekkalinna, T., Suviolahti, E., Sood, K., Metzidis, A., Pajukanta, P., Lilja, H. E., Soro-Paavonen, A., Taskinen, M. R., Tuomi, T., Almgren, P., Marju Orho-Melander, Leif Groop, Peltonen, L. & Perola, M., 2005, In : Journal of Medical Genetics. 42, 12, p. 932-939

    Research output: Contribution to journalArticle

  5. Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone

    Albagha, O. M. E., Pettersson, U., Stewart, A., F E A McGuigan, MacDonald, H. M., Reid, D. M. & Ralston, S. H., 2005 Mar, In : Journal of Medical Genetics. 42, 3, p. 240-6 7 p.

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  6. BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age

    Bergthorsson, J. T., Ejlertsen, B., Olsen, J. H., Åke Borg, Nielsen, K. V., Barkardottir, R. B., Klausen, S., Mouridsen, H. T., Winther, K., Fenger, K., Niebuhr, A., Harboe, T. L. & Niebuhr, E., 2001, In : Journal of Medical Genetics. 38, 6, p. 361-368

    Research output: Contribution to journalArticle

  7. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

    Spurdle, A. B., Whiley, P. J., Thompson, B., Feng, B., Healey, S., Brown, M. A., Pettigrew, C., Van Asperen, C. J., Ausems, M. G. E. M., Kattentidt-Mouravieva, A. A., van den Ouweland, A. M. W., Lindblom, A., Pigg, M. H., Schmutzler, R. K., Engel, C., Meindl, A., Caputo, S., Sinilnikova, O. M., Lidereau, R., Couch, F. J. & 13 others, Guidugli, L., Hansen, T. V. O., Thomassen, M., Eccles, D. M., Tucker, K., Benitez, J., Domchek, S. M., Toland, A. E., Van Rensburg, E. J., Wappenschmidt, B., Åke Borg, Vreeswijk, M. P. G. & Goldgar, D. E., 2012, In : Journal of Medical Genetics. 49, 8, p. 525-532

    Research output: Contribution to journalArticle

  8. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

    Antoniou, A. C., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Olsson, H., Johannsson, O., Borg, Å., Pasini, B., Radice, P., Manoukian, S., Eccles, D. M., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B. & 12 others, Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjakoski, K., Kallioniemi, O. P., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, D. G. & Easton, D. F., 2005, In : Journal of Medical Genetics. 42, 7, p. 602-603

    Research output: Contribution to journalArticle

  9. Classification of BRCA1 missense variants of unknown clinical significance

    Phelan, C. M., Dapic, V., Tice, B., Favis, R., Kwan, E., Barany, F., Manoukian, S., Radice, P., van der Luijt, R. B., van Nesselrooij, B. P. M., Chenevix-Trench, G., Caldes, T., de La Hoya, M., Lindquist, S., Tavtigian, S. V., Goldgar, D., Åke Borg, Narod, S. A. & Monteiro, A. N. A., 2005, In : Journal of Medical Genetics. 42, 2, p. 138-146

    Research output: Contribution to journalArticle

  10. CM-Score: A validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

    Potjer, T. P., Helgadottir, H., Leenheer, M., Van Der Stoep, N., Gruis, N. A., Höiom, V., Håkan Olsson, Van Doorn, R., Vasen, H. F. A., Van Asperen, C. J., Dekkers, O. M. & Hes, F. J., 2018, In : Journal of Medical Genetics. 55, 10, p. 661-668

    Research output: Contribution to journalArticle

  11. Common cancers share familial susceptibility: Implications for cancer genetics and counselling

    Yu, H., Frank, C., Jan Sundquist, Hemminki, A. & Kari Hemminki, 2017, In : Journal of Medical Genetics. 54, p. 248-253

    Research output: Contribution to journalArticle

  12. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

    Thorwarth, A., Schnittert-Huebener, S., Schrumpf, P., Mueller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., Ebert, G., Steininger, A., Boennemann, C., Brockmann, K., Christen, H-J., Crock, P., deZegher, F., Griese, M., Hewitt, J., Ivarsson, S. & 9 others, Huebner, C., Kapelari, K., Plecko, B., Rating, D., Stoeva, I., Ropers, H-H., Grueters, A., Ullmann, R. & Krude, H., 2014, In : Journal of Medical Genetics. 51, 6, p. 375-387

    Research output: Contribution to journalArticle

  13. Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations

    Helgadottir, H., Ghiorzo, P., van Doorn, R., Puig, S., Levin, M., Kefford, R., Martin Lauss, Queirolo, P., Pastorino, L., Kapiteijn, E., Potrony, M., Carrera, C., Håkan Olsson, Höiom, V. & Göran Jönsson, 2018 Oct 5, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  14. Familial renal cell cancer appears to have a recessive component

    K Hemminki & Xinjun Li, 2004 May, In : Journal of Medical Genetics. 41, 5, p. e58

    Research output: Contribution to journalLetter

  15. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

    Goldstein, A. M., Chan, M., Harland, M., Hayward, N. K., Demenais, F., Bishop, D. T., Azizi, E., Bergman, W., Bianchi-Scarra, G., Bruno, W., Calista, D., Albright, L. A. C., Chaudru, V., Chompret, A., Cuellar, F., Elder, D. E., Ghiorzo, P., Gillanders, E. M., Gruis, N. A., Hansson, J. & 20 others, Hogg, D., Holland, E. A., Kanetsky, P. A., Kefford, R. F., Landi, M. T., Lang, J., Leachman, S. A., MacKie, R. M., Magnusson, V., Mann, G. J., Newton Bishop, J., Palmer, J. M., Puig, S., Puig-Butille, J. A., Stark, M., Tsao, H., Tucker, M. A., Whitaker, L., Yakobson, E. & Lund Melanoma Study Group23 and the Melanoma Genetics Consortium (GenoMEL), T., 2007, In : Journal of Medical Genetics. 44, 2, p. 99-106

    Research output: Contribution to journalArticle

  16. Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes

    Bergholdt, R., Ghandil, P., Johannesen, J., Kristiansen, OP., Kockum, I., Holger Luthman, Ronningen, KS., Nerup, J., Julier, C. & Pociot, F., 2004, In : Journal of Medical Genetics. 41, 4

    Research output: Contribution to journalArticle

  17. Genome screening of coeliac disease

    Popat, S., Bevan, S., Braegger, C. P., Busch, A., O'Donoghue, D., Falth-Magnusson, K., Godkin, A., Hogberg, L., Holmes, G., Hosie, KB., Howdle, PD., Jenkins, H., Jewell, D., Johnston, S., Kennedy, N. P., Kumar, P., Logan, R. F. A., Love, A. H. G., Marsh, M. N., Mulder, C. J. & 4 others, Klas Sjöberg, Stenhammar, L., Walker-Smith, J. & Houlston, R. S., 2002, In : Journal of Medical Genetics. 39, 5, p. 328-331

    Research output: Contribution to journalArticle

  18. Germline E-cadherin mutations in familial lobular breast cancer

    Masciari, S., Larsson, N., Senz, J., Boyd, N., Kaurah, P., Kandel, M. J., Harris, L. N., Pinheiro, H. C., Troussard, A., Miron, P., Tung, N., Oliveira, C., Collins, L., Schnitt, S., Garber, J. E. & Huntsman, D., 2007, In : Journal of Medical Genetics. 44, 11, p. 726-731

    Research output: Contribution to journalArticle

  19. High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.

    Helgadottir, H., Höiom, V., Göran B Jönsson, Tuominen, R., Christian Ingvar, Åke Borg, Håkan Olsson & Hansson, J., 2014, In : Journal of Medical Genetics. 51, 8, p. 545-552

    Research output: Contribution to journalArticle

  20. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

    Osoegawa, K., Vessere, G. M., Utami, K. H., Mansilla, M. A., Johnson, M. K., Riley, B. M., L'Heureux, J., Pfundt, R., Johan Staaf, van der Vliet, W. A., Lidral, A. C., Schoenmakers, E. F. P. M., Borg, A., Schutte, B. C., Lammer, E. J., Murray, J. C. & De Jong, P. J., 2008, In : Journal of Medical Genetics. 45, 2, p. 81-86

    Research output: Contribution to journalArticle

  21. Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies

    Karppinen, S. -M., Barkardottir, R. B., Harbst, K., Sydenham, T., Syrjakoski, K., Schleutker, J., Ikonen, T., Pylkas, K., Rapakko, K., Erkko, H., Johannesdottir, G., Gerdes, A. -M., Thomassen, M., Agnarsson, B. A., Grip, M., Kallioniemi, A., Kere, J., Aaltonen, L. A., Arason, A., Moller, P. & 3 others, Kruse, T. A., Åke Borg & Winqvist, R., 2006, In : Journal of Medical Genetics. 43, 11, p. 856-862

    Research output: Contribution to journalArticle

  22. Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: Results from the prospective TEDDY study

    Beyerlein, A., Bonifacio, E., Vehik, K., Hippich, M., Winkler, C., Frohnert, B. I., Steck, A. K., Hagopian, W. A., Krischer, J. P., Åke Lernmark, Rewers, M. J., She, J. X., Toppari, J., Akolkar, B., Rich, S. S., Ziegler, A. G. & TEDDY Study Group, 2019, In : Journal of Medical Genetics. 56, 9, p. 602-605

    Research output: Contribution to journalArticle

  23. Prostate cancer risk assessment model: a scoring model based on the Swedish Family-Cancer Database

    Roudgari, H., Kari Hemminki, Brandt, A., Jan Sundquist & Fallah, M., 2012, In : Journal of Medical Genetics. 49, 5, p. 345-352

    Research output: Contribution to journalArticle

  24. Risk of thyroid cancer in first-degree relatives of patients with non-medullary thyroid cancer by histology type and age at diagnosis: a joint study from five Nordic countries

    Fallah, M., Pukkala, E., Tryggvadottir, L., Olsen, J. H., Tretli, S., Kristina Sundquist & Kari Hemminki, 2013, In : Journal of Medical Genetics. 50, 6, p. 373-382

    Research output: Contribution to journalArticle

  25. Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC

    Di Fiore, F., Charbonnier, F., Martin, C., Frerot, S., Olschwang, S., Wang, Q., Boisson, C., Buisine, MP., Mef Nilbert, Lindblom, A. & Frebourg, T., 2004, In : Journal of Medical Genetics. 41, 1, p. 18-20

    Research output: Contribution to journalArticle

  26. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

    Moghadasi, S., Meeks, H. D., Vreeswijk, M. P. G., Janssen, L. A. M., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Van Overeem Hansen, T., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., Couch, F. & 20 others, Hallberg, E. J., van den Ouweland, A. M. W., Collée, J. M., Teugels, E., Adank, M. A., van der Luijt, R. B., Mensenkamp, A. R., Oosterwijk, J. C., Blok, M. J., Janin, N., Claes, K. B. M., Tucker, K., Viassolo, V., Toland, A. E., Eccles, D. E., Devilee, P., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & García, E. G., 2018, In : Journal of Medical Genetics. 55, 1, p. 15-20

    Research output: Contribution to journalArticle