Human Genetics, 1432-1203

Tidskrift

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  1. 2019
  2. Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia

    Heidi Howard, Emilia Niemiec & on behalf of the Participant Values Work Stream of the Global Alliance for Genomics and Health on behalf of the Participant Values Work Stream of the Global Alliance for Genomics and Health, 2019 dec 1, I : Human Genetics. 138, 11-12, s. 1237-1246 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 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, I : Human Genetics. 138, 2, s. 141–150

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. 2017
  5. 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 andra, 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, I : Human Genetics. 136, 4, s. 463-479 17 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 2016
  7. 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 andra, 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, I : Human Genetics. 135, 11, s. 1241-1249 9 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Mauno Vihinen, 2015, I : Human Genetics. 134, 4, s. 405-421

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 2014
  11. 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 andra, A. Carracedo & C. Ruiz-Ponte, 2014, I : Human Genetics. 133, 5, s. 525-534

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. 2013
  13. 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, I : Human Genetics. 132, 2, s. 219-231

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. 2011
  15. 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 andra, 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, I : Human Genetics. 130, 5, s. 685-99 15 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. 2005
  17. Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene

    J M Hertz, Ulf Persson, I Juncker & Mårten Segelmark, 2005, I : Human Genetics. 118, 1, s. 23-28

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. Book review: Genetic predisposition of cancer, 2nd ed.

    Ulf Kristoffersson, 2005, I : Human Genetics. 117, 4, s. 406-407

    Forskningsoutput: TidskriftsbidragRecension av bok/film/utställning etc.

  19. 2003
  20. 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, I : Human Genetics. 112, 2, s. 217-218

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. 2002
  22. 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 andra, RB Barkardottir, H Nevanlinna, Åke Borg & OP Kallioniemi, 2002, I : Human Genetics. 110, 2, s. 111-121

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. 2001
  24. 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, I : Human Genetics. 109, 5, s. 551-558

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. 2000
  26. 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, I : Human Genetics. 106, 6, s. 646-653

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. 1999
  28. 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, I : Human Genetics. 104, 4, s. 315-325

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. 1998
  30. 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, I : Human Genetics. 103, 4, s. 529-531

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. 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, I : Human Genetics. 102, 3, s. 253-257

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. 1997
  33. 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, I : Human Genetics. 101, 3, s. 295-8 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. 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, I : Human Genetics. 99, 6, s. 704-9 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. 1995
  36. An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia

    Ulf Ekström, Magnus Abrahamson, Tomas Sveger, Paola Lombardi & Peter Nilsson-Ehle, 1995, I : Human Genetics. 96, 2, s. 147-150

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. 1993
  38. An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a Sst II polymorphism

    Milagros Balbin, Anders Grubb & Magnus Abrahamson, 1993, I : Human Genetics. 92, 2, s. 206-207

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. 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, I : Human Genetics. 90, 6, s. 668-669

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. 1992
  41. 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 maj, I : Human Genetics. 89, 3, s. 319-322 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. 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, I : Human Genetics. 88, 4, s. 484-485

    Forskningsoutput: TidskriftsbidragLetter

  43. 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, I : Human Genetics. 89, 5, s. 580-582

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  44. Hereditary cystatin C amyloid angiopathy: Identification of the disease causing mutation and specific diagnosis by polymerase chain reaction based analysis

    Magnus Abrahamson, S Jonsdottir, I Olafsson, O Jensson & Anders Grubb, 1992, I : Human Genetics. 89, 4, s. 377-380

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Milagos Balbin & Magnus Abrahamson, 1992, I : Human Genetics. 88, 6, s. 710

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  46. 1991
  47. Sst II polymorphic sites in the promoter region of the human cystatin C gene

    Milagros Balbin & Magnus Abrahamson, 1991, I : Human Genetics. 87, 6, s. 751-752

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  48. 1990
  49. Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD)

    A J Montandon, P M Green, D R Bentley, R Ljung, Inga Marie Nilsson & F Giannelli, 1990 jul, I : Human Genetics. 85, 2, s. 200-4

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  50. 1989
  51. The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20

    Magnus Abrahamson, M Quamrul Islam, Josiane Szpirer, Claude Szpirer & Göran Levan, 1989, I : Human Genetics. 82, 3, s. 223-226

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  52. 1984
  53. First-trimester diagnosis on chorionic villi obtained by direct vision technique

    Björn Gustavii, Alan Chester, Heléne Edvall, Serafim Iosif, Ulf Kristoffersson, Lars Löfberg, Anita Mineur & Felix Mitelman, 1984, I : Human Genetics. 65, 4, s. 373-376

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  54. 1979
  55. Chromosome aberrations in psoriatic patients treated with arsenic

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift