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Defects of class-switch recombination
Defects of class-switch recombination
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Defects of class-switch recombination

Notarangelo, Luigi D. ; Lanzi, Gaetana ; Peron, Sophie ; Durandy, Anne

Journal of Allergy and Clinical Immunology, 2006-04, Vol.117 (4), p.855-864 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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2
Acute chest syndrome in children with sickle cell disease: Data from a national AIEOP cohort identify priority areas of intervention in a hub-and-spoke system
Acute chest syndrome in children with sickle cell disease: Data from a national AIEOP cohort identify priority areas of intervention in a hub-and-spoke system
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Acute chest syndrome in children with sickle cell disease: Data from a national AIEOP cohort identify priority areas of intervention in a hub-and-spoke system

Munaretto, V ; Corti, P ; Bertoni, E ; Tripodi, S I ; Guerzoni, M E ; Cesaro, S ; Arcioni, F ; Piccolo, C ; Mina, T ; Zecca, M ; Cuzzubbo, D ; Casale, M ; Palazzi, G ; Notarangelo, L D ; Masera, N ; Samperi, P ; Perrotta, S ; Russo, G ; Sainati, L ; Colombatti, R

British journal of haematology, 2024-03, Vol.204 (3), p.1061-1066 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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3
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Vezzoni, Paolo ; Frattini, Annalisa ; Orchard, Paul J ; Sobacchi, Cristina ; Giliani, Silvia ; Abinun, Mario ; Mattsson, Jan P ; Keeling, David J ; Andersson, Ann-Katrin ; Wallbrandt, Pia ; Zecca, Luigi ; Notarangelo, Luigi D ; Villa, Anna

Nature genetics, 2000-07, Vol.25 (3), p.343-346 [Periódico revisado por pares]

London: Nature Publishing Group

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4
Common Polymorphisms of the Growth Hormone (GH) Receptor Do Not Correlate with the Growth Response to Exogenous Recombinant Human GH in GH-Deficient Children
Common Polymorphisms of the Growth Hormone (GH) Receptor Do Not Correlate with the Growth Response to Exogenous Recombinant Human GH in GH-Deficient Children
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Common Polymorphisms of the Growth Hormone (GH) Receptor Do Not Correlate with the Growth Response to Exogenous Recombinant Human GH in GH-Deficient Children

Pilotta, A ; Mella, P ; Filisetti, M ; Felappi, B ; Prandi, E ; Parrinello, G ; Notarangelo, L. D ; Buzi, F

The journal of clinical endocrinology and metabolism, 2006-03, Vol.91 (3), p.1178-1180 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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5
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT
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Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT

Schuetz, C. ; Gerke, J. ; Ege, M. ; Walter, J. ; Kusters, M. ; Worth, A. ; Kanakry, J. A. ; Dimitrova, D. ; Wolska-Kuśnierz, B. ; Chen, K. ; Unal, E. ; Karakukcu, M. ; Pashchenko, O. ; Leiding, J. ; Kawai, T. ; Amrolia, P. J. ; Berghuis, D. ; Buechner, J. ; Buchbinder, D. ; Cowan, M. J. ; Gennery, A. R. ; Güngör, T. ; Heimall, J. ; Miano, M. ; Meyts, I. ; Morris, E. C. ; Rivière, J. ; Sharapova, S. O. ; Shaw, P. J. ; Slatter, M. ; Honig, M. ; Veys, P. ; Fischer, A. ; Cavazzana, M. ; Moshous, D. ; Schulz, A. ; Albert, M. H. ; Puck, J. M. ; Lankester, A. C. ; Notarangelo, L. D. ; Neven, B.

Blood, 2023-02, Vol.141 (7), p.713-724 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Comparison of American and European practices in the management of patients with primary immunodeficiencies
Comparison of American and European practices in the management of patients with primary immunodeficiencies
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Comparison of American and European practices in the management of patients with primary immunodeficiencies

Hernandez‐Trujillo, H. S. ; Chapel, H. ; Lo Re III, V. ; Notarangelo, L. D. ; Gathmann, B. ; Grimbacher, B. ; Boyle, J. M. ; Hernandez‐Trujillo, V. P. ; Scalchunes, C. ; Boyle, M. L. ; Orange, J. S.

Clinical and experimental immunology, 2012-07, Vol.169 (1), p.57-69 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients
PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients
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PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients

Chiarini, M ; Sabelli, C ; Melotti, P ; Garlanda, C ; Savoldi, G ; Mazza, C ; Padoan, R ; Plebani, A ; Mantovani, A ; Notarangelo, L D ; Assael, B M ; Badolato, R

Genes and immunity, 2010-12, Vol.11 (8), p.665-670 [Periódico revisado por pares]

England: Nature Publishing Group

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8
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
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The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

Sayos, J ; Terhorst, C ; Wu, C ; Morra, M ; Wang, N ; Zhang, X ; Allen, D ; van Schaik, S ; Notarangelo, L ; Geha, R ; Roncarolo, M. G ; Oettgen, H ; De Vries, J. E ; Aversa, G

Nature (London), 1998-10, Vol.395 (6701), p.462-469 [Periódico revisado por pares]

London: Nature Publishing

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9
Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)
Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)
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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Revy, Patrick ; Muto, Taro ; Levy, Yves ; Geissmann, Frédéric ; Plebani, Alessandro ; Sanal, Ozden ; Catalan, Nadia ; Forveille, Monique ; Dufourcq-Lagelouse, Rémi ; Gennery, Andrew ; Tezcan, Ilhan ; Ersoy, Fugen ; Kayserili, Hulya ; Ugazio, Alberto G ; Brousse, Nicole ; Muramatsu, Masamichi ; Notarangelo, Luigi D ; Kinoshita, Kazuo ; Honjo, Tasuku ; Fischer, Alain ; Durandy, Anne

Cell, 2000-09, Vol.102 (5), p.565-575 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Gene Therapy in Peripheral Blood Lymphocytes and Bone Marrow for ADA$^-$ Immunodeficient Patients
Gene Therapy in Peripheral Blood Lymphocytes and Bone Marrow for ADA$^-$ Immunodeficient Patients
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Gene Therapy in Peripheral Blood Lymphocytes and Bone Marrow for ADA$^-$ Immunodeficient Patients

Bordignon, Claudio ; Notarangelo, Luigi D. ; Nobili, Nadia ; Ferrari, Giuliana ; Casorati, Giulia ; Panina, Paola ; Mazzolari, Evelina ; Maggioni, Daniela ; Rossi, Claudia ; Servida, Paolo ; Ugazio, Alberto G. ; Mavilio, Fulvio

Science (American Association for the Advancement of Science), 1995-10, Vol.270 (5235), p.470-475 [Periódico revisado por pares]

Washington, DC: American Society for the Advancement of Science

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