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Page 1
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 ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study; Attié-Bitach T, Boutaud L, Héron D, Mignot C. Depienne C, et al. Among authors: jonson t. Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10. Hum Genet. 2017. PMID: 28283832 Free PMC article.
Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer.
Karlsson J, Valind A, Holmquist Mengelbier L, Bredin S, Cornmark L, Jansson C, Wali A, Staaf J, Viklund B, Øra I, Börjesson A, Backman T, Braekeveldt N, Sandstedt B, Pal N, Isaksson A, Lackner BG, Jonson T, Bexell D, Gisselsson D. Karlsson J, et al. Among authors: jonson t. Nat Genet. 2018 Jul;50(7):944-950. doi: 10.1038/s41588-018-0131-y. Epub 2018 Jun 4. Nat Genet. 2018. PMID: 29867221
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM. Régal L, et al. Among authors: jonson t. Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726805 Free article.
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.
Christesen HT, Christensen LG, Löfgren ÅM, Brøndum-Nielsen K, Svensson J, Brusgaard K, Samuelsson S, Elfving M, Jonson T, Grønskov K, Rasmussen L, Backman T, Hansen LK, Larsen AR, Petersen H, Detlefsen S. Christesen HT, et al. Among authors: jonson t. Eur J Med Genet. 2020 Jan;63(1):103632. doi: 10.1016/j.ejmg.2019.02.004. Epub 2019 Feb 21. Eur J Med Genet. 2020. PMID: 30797057 Free article.
Molecular analyses of the 15q and 18q SMAD genes in pancreatic cancer.
Jonson T, Gorunova L, Dawiskiba S, Andrén-Sandberg A, Stenman G, ten Dijke P, Johansson B, Höglund M. Jonson T, et al. Genes Chromosomes Cancer. 1999 Jan;24(1):62-71. doi: 10.1002/(sici)1098-2264(199901)24:1<62::aid-gcc9>3.0.co;2-4. Genes Chromosomes Cancer. 1999. PMID: 9892110
Genetic heterogeneity in rhabdomyosarcoma revealed by SNP array analysis.
Walther C, Mayrhofer M, Nilsson J, Hofvander J, Jonson T, Mandahl N, Øra I, Gisselsson D, Mertens F. Walther C, et al. Among authors: jonson t. Genes Chromosomes Cancer. 2016 Jan;55(1):3-15. doi: 10.1002/gcc.22285. Epub 2015 Oct 20. Genes Chromosomes Cancer. 2016. PMID: 26482321
50 results