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748 results

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A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, Ghanem S, Mahfouz I, Mégarbané A, Lefranc G, Inati A, Dbaibo G, Giliani S, Notarangelo LD, Geha RS, Massaad MJ. Chou J, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25. J Allergy Clin Immunol. 2012. PMID: 22841008 Free PMC article. No abstract available.
Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA.
Wengler GS, Notarangelo LD, Giliani S, Pirastru MG, Ugazio AG, Parolini O. Wengler GS, et al. Among authors: notarangelo ld. Lancet. 1995 Sep 2;346(8975):641-2. doi: 10.1016/s0140-6736(95)91477-3. Lancet. 1995. PMID: 7651032 No abstract available.
The hyper-IgM (HIM) syndrome.
Ramesh N, Seki M, Notarangelo LD, Geha RS. Ramesh N, et al. Among authors: notarangelo ld. Springer Semin Immunopathol. 1998;19(4):383-99. doi: 10.1007/BF00792598. Springer Semin Immunopathol. 1998. PMID: 9618764 Review. No abstract available.
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. Villa A, et al. Among authors: notarangelo ld. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.
Omenn syndrome in an infant with IL7RA gene mutation.
Giliani S, Bonfim C, de Saint Basile G, Lanzi G, Brousse N, Koliski A, Malvezzi M, Fischer A, Notarangelo LD, Le Deist F. Giliani S, et al. Among authors: notarangelo ld. J Pediatr. 2006 Feb;148(2):272-4. doi: 10.1016/j.jpeds.2005.10.004. J Pediatr. 2006. PMID: 16492442
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J; International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Geha RS, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2007 Oct;120(4):776-94. doi: 10.1016/j.jaci.2007.08.053. J Allergy Clin Immunol. 2007. PMID: 17952897 Free PMC article.
748 results