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Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.
Recher M, Karjalainen-Lindsberg ML, Lindlöf M, Söderlund-Venermo M, Lanzi G, Väisänen E, Kumar A, Sadeghi M, Berger CT, Alitalo T, Anttila P, Kolehmainen M, Franssila R, Chen T, Siitonen S, Delmonte OM, Walter JE, Pessach I, Hess C, Simpson MA, Navarini AA, Giliani S, Hedman K, Seppänen M, Notarangelo LD. Recher M, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2014 May;133(5):1462-5, 1465.e1-5. doi: 10.1016/j.jaci.2013.10.052. Epub 2013 Dec 24. J Allergy Clin Immunol. 2014. PMID: 24373355 No abstract available.
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Giliani S, Mori L, de Saint Basile G, Le Deist F, Rodriguez-Perez C, Forino C, Mazzolari E, Dupuis S, Elhasid R, Kessel A, Galambrun C, Gil J, Fischer A, Etzioni A, Notarangelo LD. Giliani S, et al. Among authors: notarangelo ld. Immunol Rev. 2005 Feb;203:110-26. doi: 10.1111/j.0105-2896.2005.00234.x. Immunol Rev. 2005. PMID: 15661025 Review.
Damaging-agent sensitivity of Artemis-deficient cell lines.
Musio A, Marrella V, Sobacchi C, Rucci F, Fariselli L, Giliani S, Lanzi G, Notarangelo LD, Delia D, Colombo R, Vezzoni P, Villa A. Musio A, et al. Among authors: notarangelo ld. Eur J Immunol. 2005 Apr;35(4):1250-6. doi: 10.1002/eji.200425555. Eur J Immunol. 2005. PMID: 15770702 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
Defects of class-switch recombination.
Notarangelo LD, Lanzi G, Peron S, Durandy A. Notarangelo LD, et al. J Allergy Clin Immunol. 2006 Apr;117(4):855-64. doi: 10.1016/j.jaci.2006.01.043. J Allergy Clin Immunol. 2006. PMID: 16630945 Review.
747 results