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772 results

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Page 1
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Vogt G, et al. Among authors: holland sm. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondanèche MC, Dupuis S, Döffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL. Jouanguy E, et al. Among authors: holland sm. Nat Genet. 1999 Apr;21(4):370-8. doi: 10.1038/7701. Nat Genet. 1999. PMID: 10192386
Genetic linkage of hyper-IgE syndrome to chromosome 4.
Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Español T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM. Grimbacher B, et al. Among authors: holland sm. Am J Hum Genet. 1999 Sep;65(3):735-44. doi: 10.1086/302547. Am J Hum Genet. 1999. PMID: 10441580 Free PMC article.
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL. Döffinger R, et al. Among authors: holland sm. Nat Genet. 2001 Mar;27(3):277-85. doi: 10.1038/85837. Nat Genet. 2001. PMID: 11242109
Mycobacterial diseases in primary immunodeficiencies.
Reichenbach J, Rosenzweig S, Döffinger R, Dupuis S, Holland SM, Casanova JL. Reichenbach J, et al. Among authors: holland sm. Curr Opin Allergy Clin Immunol. 2001 Dec;1(6):503-11. doi: 10.1097/00130832-200112000-00003. Curr Opin Allergy Clin Immunol. 2001. PMID: 11964733 Review.
772 results