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

    Jonas Carlsson Almlöf, Sara Nystedt, Dag Leonard, Maija Leena Eloranta, Giorgia Grosso, Christopher Sjöwall, Anders A. Bengtsson, Andreas Jönsen, Iva Gunnarsson, Elisabet Svenungsson, Lars Rönnblom, Johanna K. Sandling & Ann Christine Syvänen, 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

    Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie Laure Moutard, Pankaj B. Agrawal, Grace VanNoy, Joan M. Stoler, David J Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier-Daire, Catherine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint-Martin & 31 others, Edouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloes, Christine Orzechowski, Lydie Burglen, Bruno Leheup, Joelle Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael J. Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Tord Jonson, Maria Soller & DDD Study 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

    Xiaohong R. Yang, Melissa Rotunno, Yanzi Xiao, Christian Ingvar, Hildur Helgadottir, Lorenza Pastorino, Remco van Doorn, Hunter Bennett, Cole Graham, Joshua N. Sampson, Michael Malasky, Aurelie Vogt, Bin Zhu, Giovanna Bianchi-Scarra, William Bruno, Paola Queirolo, Giuseppe Fornarini, Johan Hansson, Rainer Tuominen, Laurie Burdett & 12 others, Belynda Hicks, Amy Hutchinson, Kristine Jones, Meredith Yeager, Stephen J. Chanock, Maria Teresa Landi, Veronica Höiom, Håkan Olsson, Nelleke Gruis, Paola Ghiorzo, Margaret A. Tucker & Alisa M. Goldstein, 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

    C. Fernandez-Rozadilla, J. B. Cazier, I. Tomlinson, A. Brea-Fernandez, M. J. Lamas, M. Baiget, L. A. Lopez-Fernandez, J. Clofent, L. Bujanda, D. Gonzalez, L. de Castro, Kari Hemminki, X. Bessa, M. Andreu, R. Jover, R. Xicola, X. Llor, V. Moreno, A. Castells, S. Castellvi-Bel & 2 others, A. Carracedo & C. Ruiz-Ponte, 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

    Sabine Siegert, Jochen Hampe, Clemens Schafmayer, Witigo von Schoenfels, Jan-Hendrik Egberts, Asta Försti, Bowang Chen, Jesus Lascorz, Kari Hemminki, Andre Franke, Michael Nothnagel, Ute Noethlings & Michael Krawczak, 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

    Kate M Im, Tomas Kirchhoff, Xianshu Wang, Todd Green, Clement Y Chow, Joseph Vijai, Joshua Korn, Mia M Gaudet, Zachary Fredericksen, V Shane Pankratz, Candace Guiducci, Andrew Crenshaw, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M Sinilnikova, Phuong L Mai, Mark H Greene, Marion Piedmonte & 31 others, Wendy S Rubinstein, Frans B Hogervorst, Matti A Rookus, J Margriet Collée, Nicoline Hoogerbrugge, Christi J van Asperen, Hanne E J Meijers-Heijboer, Cees E Van Roozendaal, Trinidad Caldes, Pedro Perez-Segura, Anna Jakubowska, Jan Lubinski, Tomasz Huzarski, Paweł Blecharz, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Rosa B Barkardottir, Marco Montagna, Emma D'Andrea, Peter Devilee, Olufunmilayo I Olopade, Susan L Neuhausen, Bernard Peissel, Bernardo Bonanni, Paolo Peterlongo, Christian F Singer, Gad Rennert, Mark J Daly & HEBON 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

    R Robinson, P Hopkins, A Carsana, H Gilly, J Halsall, L Heytens, Gunilla Islander, K Jurkat-Rott, C Muller & MA Shaw, 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

    E Rozenblum, P Vahteristo, Therese Törngren, JT Bergthorsson, K Syrjakoski, D Weaver, Karin Haraldsson, HK Johannsdottir, P Vehmanen, S Nigam, N Golberger, C Robbins, E Pak, A Dutra, E Gillander, DA Stephan, J Bailey-Wilson, SHH Juo, T Kainu, A Arason & 4 others, RB Barkardottir, H Nevanlinna, Åke Borg & OP Kallioniemi, 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

    Giedre Grigelioniene, Jacqueline Schoumans, Lo Neumeyer, Sten Ivarsson, Ole Eklof, Ove Enkvist, Paul Tordai, Inger Fosdal, Anne Myhre, Otto Westphal, Nils Nilsson, Maria Elfving, Ian Ellis, Britt-Marie Anderlid, Ingegerd Fransson, Isabel Tapia-Paez, Magnus Nordenskjold, Lars Hagenas & Jan P. Dumanski, 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

    D S Millar, B Johansen, Erik Berntorp, A Minford, P Bolton-Maggs, R Wensley, V Kakkar, S Schulman, A Torres, N Bosch & D N Cooper, 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, Paola Dal Cin, Herman Van den Berghe, William C Earnshaw, 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, Andrej Nikoshkov, Kristina Lindsten, Birgitta Byström, Ake Pousette, Alexander V. Chibalin, Sivonne Arvidsson, Anatoly Tiulpakov, Tatiana V. Semitcheva, Valentina Peterkova, Kerstin Hagenfeldt, E. Martin Ritzén & Anna Wedell, 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, Olle Hagnell, Karin Nilsson, Maria Stensmyr, Ann-Kristin Öhlin, 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

    K Broberg, J Limon, E Pålsson, A Lindstrand, 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

    S Lajic, A Levo, A Nikoshkov, Y Lundberg, J Partanen & A Wedell, 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

    Milagros Balbin, José P Freije, Magnus Abrahamson, Gloria Velasco, Anders Grubb & Carlos Lopez-Otin, 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

    A. J. Montandon, P. M. Green, D. R. Bentley, R. Ljung, S. Kling, I. M. Nilsson & F. Giannelli, 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

    Stefan Kling, Rolf Ljung, Elsy Sjörin & Inga Marie Nilsson, 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

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

    Research output: Contribution to journalArticle

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