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TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
Bigorgne AE, Farin HF, Lemoine R, Mahlaoui N, Lambert N, Gil M, Schulz A, Philippet P, Schlesser P, Abrahamsen TG, Oymar K, Davies EG, Ellingsen CL, Leteurtre E, Moreau-Massart B, Berrebi D, Bole-Feysot C, Nischke P, Brousse N, Fischer A, Clevers H, de Saint Basile G. Bigorgne AE, et al. Among authors: abrahamsen tg. J Clin Invest. 2014 Jan;124(1):328-37. doi: 10.1172/JCI71471. J Clin Invest. 2014. PMID: 24292712 Free PMC article.
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
Notarangelo LD, Peitsch MC, Abrahamsen TG, Bachelot C, Bordigoni P, Cant AJ, Chapel H, Clementi M, Deacock S, de Saint Basile G, Duse M, Espanol T, Etzioni A, Fasth A, Fischer A, Giliani S, Gomez L, Hammarstorm L, Jones A, Kanariou M, Kinnon C, Klemola T, Kroczek RA, Levy J, Matamoros N, Monafo V, Paolucci P, Reznick I, Sanal O, Smith CI, Thompson RA, Tovo P, Villa A, Vihinen M, Vossen J, Zegers BJ. Notarangelo LD, et al. Among authors: abrahamsen tg. Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5. Immunol Today. 1996. PMID: 8961627
Clinical spectrum of X-linked hyper-IgM syndrome.
Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD. Levy J, et al. J Pediatr. 1997 Jul;131(1 Pt 1):47-54. doi: 10.1016/s0022-3476(97)70123-9. J Pediatr. 1997. PMID: 9255191
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K. Villa A, et al. Among authors: abrahamsen tg. Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. Blood. 2001. PMID: 11133745 Free article.
Complement Activation in 22q11.2 Deletion Syndrome.
Grinde D, Øverland T, Lima K, Schjalm C, Mollnes TE, Abrahamsen TG. Grinde D, et al. Among authors: abrahamsen tg. J Clin Immunol. 2020 Apr;40(3):515-523. doi: 10.1007/s10875-020-00766-x. Epub 2020 Mar 9. J Clin Immunol. 2020. PMID: 32152940 Free PMC article.
T-cell Receptor Excision Circles in Newborns with Heart Defects.
Gul KA, Strand J, Pettersen RD, Brun H, Abrahamsen TG. Gul KA, et al. Among authors: abrahamsen tg. Pediatr Cardiol. 2020 Apr;41(4):809-815. doi: 10.1007/s00246-020-02317-y. Epub 2020 Mar 13. Pediatr Cardiol. 2020. PMID: 32166410 Free PMC article.
120 results