Luigi D. Notarangelo: search on Z-Library

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51

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

Korthäuer, Ulf, Graf, Daniel, Mages, Hans W., Brière, Francine, Padayachee, Munoreedevi, Malcolm, Sue, Ugazio, Alberto G., Notarangelo, Luigi D., Levinsky, Roland J., Kroczek, Richard A.

Journal:

Year:

1993

File:

PDF, 361 KB

1993

52

X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene

Villa, Anna, Notarangelo, Luigi, Macchi, Paolo, Mantuano, Elide, Cavagni, Giovanni, Brugnoni, Duilio, Strina, Dario, Patrosso, M Cristina, Ramenghi, Ugo, Grazia Sacco, Maria

Journal:

Nature Genetics

Year:

1995

File:

PDF, 401 KB

1995

53

Education and worldwide collaboration pays off

Maròdi, Làszlò, Notarangelo, Luigi D

Journal:

Nature Immunology

Year:

2007

Language:

english

File:

PDF, 79 KB

english, 2007

54

Immunological and genetic bases of new primary immunodeficiencies

Maródi, László, Notarangelo, Luigi D.

Journal:

Nature Reviews Immunology

Year:

2007

Language:

english

File:

PDF, 777 KB

english, 2007

55

Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Annalisa Frattini, Alessandra Pangrazio, Lucia Susani, Cristina Sobacchi, Massimiliano Mirolo, Mario Abinun, Marino Andolina, Adrienne Flanagan, Edwin M Horwitz, Ercan Mihci, Luigi D Notarangelo, Ugo

Journal:

Journal of Bone and Mineral Research

Year:

2003

Language:

english

File:

PDF, 83 KB

english, 2003

56

Omenn Syndrome: A Disorder of Rag1 and Rag2 Genes

Anna Villa, Sandro Santagata, Fabio Bozzi, Luisa Imberti, Luigi D. Notarangelo

Journal:

Journal of Clinical Immunology

Year:

1999

Language:

english

File:

PDF, 1.39 MB

english, 1999

57

Mutations of the X-linked lymphoproliferative disease geneSH2D1Amimicking common variable immunodeficiency

Soresina, Annarosa, Lougaris, Vassilis, Giliani, Silvia, Cardinale, Fabio, Armenio, Lucio, Cattalini, Marco, Notarangelo, Luigi, Plebani, Alessandro

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 181 KB

english, 2002

58

Combined decrease of defined B and T cell subsets in a group of common variable immunodeficiency patients

Daniele Moratto, Anna Virginia Gulino, Stefania Fontana, Luigi Mori, Silvia Pirovano, Annarosa Soresina, Antonella Meini, Luisa Imberti, Luigi Daniele Notarangelo, Alessandro Plebani, Raffaele Badolat

Journal:

Clinical Immunology

Year:

2006

Language:

english

File:

PDF, 814 KB

english, 2006

59

Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006)

Claire Booth, Mike Hershfield, Luigi Notarangelo, Rebecca Buckley, Manfred Hoenig, Nizar Mahlaoui, Marina Cavazzana-Calvo, Alessandro Aiuti, H. Bobby Gaspar

Journal:

Clinical Immunology

Year:

2007

Language:

english

File:

PDF, 324 KB

english, 2007

60

An exemplum of XLA

Luigi D. Notarangelo, David J. Rawlings, Kathleen E. Sullivan

Journal:

Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 113 KB

english, 2008

61

OR.1. Hypomorphic Rag1 and Lig4 Mutants are a Model for Human Leaky SCID

Francesca Rucci, Pietro Poliani, Catherine Yan, JoAnn Sekiguchi, Hwei-Ling Cheng, Stefano Caraffi, Miguel De La Fuente, Jolan Walter, Fabio Facchetti, Anna Villa, Frederick Alt, Luigi Notarangelo

Journal:

Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 38 KB

english, 2008

62

OR.2. Adoptive Transfer of Hypomorphic Rag2 Mutant Fetal Liver Cells in Reconstituted Thymic Architecture Can Prevent Peripheral Immunopathology

Veronica Marrella, Pietro Poliani, Anna Casati, Luigi Notarangelo, Fabio Facchetti, Fabio Grassi, Anna Villa

Journal:

Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 50 KB

english, 2008

63

F.65. The Wiskott-Aldrich Syndrome Protein is Essential for Development and Correct Function of the Marginal Zone

Lisa Westerberg, Miguel De La Fuente, Fredrik Wermeling, Hans Ochs, Mikael Karlsson, Luigi Notarangelo, Scott Snapper

Journal:

Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 42 KB

english, 2008

64

What does it take to call it a pathogenic mutation?

Thomas A. Fleisher, Luigi D. Notarangelo

Journal:

Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 142 KB

english, 2008

65

OR.88. Identification of a Subset of AIRE Expressing Dendritic Cell in Human Peripheral Lymphoid Tissues: Evidences for a Role in the Induction of Peripheral Tolerance

Pietro Poliani, Kai Kisand, Veronica Marrella, Maria Ravanini, Luigi Notarangelo, Anna Villa, Pärt Peterson, Fabio Facchetti

Journal:

Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

66

F.121. B Cell-mediated Autoimmunity in Hypomorphic rag1 and lig4 Mouse Mutants as Models for Human Leaky SCID

Jolan Walter, Francesca Rucci, Laura Patrizi, Emma-Maria Andersson, Marton Keszei, Catherine Yan, Irina Gavanescu, Pietro Poliani, JoAnn Sekiguchi, Frederick Alt, Luigi Notarangelo

Journal:

Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

67

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter

Arturo Borzutzky, Brian Crompton, Anke K. Bergmann, Silvia Giliani, Sachin Baxi, Madelena Martin, Ellis J. Neufeld, Luigi D. Notarangelo

Journal:

Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 512 KB

english, 2009

68

Defects of B Cell Tolerance and Expansion of Immunoglobulin Secreting Cells in Rag-dependent Immunodeficiency

Jolan Walter, Francesca Rucci, Cynthia Detre, Laura Patrizi, Mike Recher, Marton Keszei, Itai Pessach, Philipp Lang, Stephan Regenass, JoAnn Sekiguchi, Frederick Alt, Luigi Notarangelo

Journal:

Clinical Immunology

Year:

2010

Language:

english

File:

PDF, 55 KB

english, 2010

69

Characterisation of Mice with B Cell Specific WASP Deficiency

Mike Recher, Miguel Fuente, Laura Patrizi, Jolan Walter, Siobhan Burns, Adrian Thrasher, Luigi Notarangelo

Journal:

Clinical Immunology

Year:

2010

Language:

english

File:

PDF, 56 KB

english, 2010

70

Immunology IV: Clinical Applications in Health and Disease. Editor: Joseph A. Bellanti, MD, Georgetown University School of Medicine, Washington, DC. Associate Editors: Alejandro Escobar-Gutierrez, PhD, National School of Biological Sciences, Mexico City; George C. Tsokos, MD, Harvard Medical School, Boston. Publisher: I Care Press, Bethesda, MD.

Luigi D. Notarangelo

Journal:

Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 110 KB

english, 2012

71

Classification of primary immunodeficiency disorders: One-fits-all does not help anymore

Waleed Al-Herz, Luigi D. Notarangelo

Journal:

Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012

72

Regulatory T-like cells: Another variation on the theme of hypomorphic mutations?

Luigi D. Notarangelo

Journal:

Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 132 KB

english, 2011

73

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

Waleed Al-Herz, Raj Ragupathy, Michel J. Massaad, Raja'a Al-Attiyah, Arti Nanda, Karin R. Engelhardt, Bodo Grimbacher, Luigi Notarangelo, Talal Chatila, Raif S. Geha

Journal:

Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 544 KB

english, 2012

74

Primary Immunodeficiency Diseases Volume 919 || Combined T and B Cell Immunodeficiencies

Rezaei, Nima, Aghamohammadi, Asghar, Notarangelo, Luigi D.

Year:

2008

Language:

english

File:

PDF, 689 KB

english, 2008

75

Structural Basis for SH2D1A Mutations in X-Linked Lymphoproliferative Disease

Ilkka Lappalainen, Silvia Giliani, Roberta Franceschini, Jean-Yves Bonnefoy, Colin Duckett, Luigi D. Notarangelo, Mauno Vihinen

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 210 KB

english, 2000

76

Distinct Interactions of the X-Linked Lymphoproliferative Syndrome Gene Product SAP with Cytoplasmic Domains of Members of the CD2 Receptor Family

Jennifer Lewis, Lisa J. Eiben, David L. Nelson, Jeffrey I. Cohen, Kim E. Nichols, Hans D. Ochs, Luigi D. Notarangelo, Colin S. Duckett

Journal:

Clinical Immunology

Year:

2001

Language:

english

File:

PDF, 273 KB

english, 2001

77

Molecular Modeling of the Jak3 Kinase Domains and Structural Basis for Severe Combined Immunodeficiency

Mauno Vihinen, Anna Villa, Patrizia Mella, R.Fabian Schumacher, Gianfranco Savoldi, John J. O'Shea, Fabio Candotti, Luigi D. Notarangelo

Journal:

Clinical Immunology

Year:

2000

Language:

english

File:

PDF, 401 KB

english, 2000

78

Isolation of Cosmid and cDNA Clones in the Region Surrounding the BTK Gene at Xq21.3-q22

Igor Vořechovský, David Vetrie, Jill Holland, David R. Bentley, Karen Thomas, Jian-Nian Zhou, Luigi D. Notarangelo, Alessandro Plebani, Gumorsindo Fontán, Hans D. Ochs, Lennart Hammarström, Paschalis

Journal:

Year:

1994

File:

PDF, 682 KB

1994

79

The Genomic Organization of the Human Transcription Factor 3 (TFE3) Gene

Paolo Macchi, Luigi Notarangelo, Silvia Giliani, Dario Strina, Monica Repetto, Maria Grazia Sacco, Paolo Vezzoni, Anna Villa

Journal:

Year:

1995

File:

PDF, 263 KB

1995

80

An international study examining therapeutic options used in treatment of Wiskott–Aldrich syndrome

Mary Ellen Conley, Delphine Saragoussi, Luigi Notarangelo, Amos Etzioni, Jean-Laurent Casanova

Journal:

Clinical Immunology

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

81

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype

Giuseppe Borsani, Giovanna Piovani, Nicoletta Zoppi, Valeria Bertini, Rita Bini, Luigi Notarangelo, Sergio Barlati

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.00 MB

english, 2008

82

Inborn Errors of Human JAKs and STATs

Jean-Laurent Casanova, Steven M. Holland, Luigi D. Notarangelo

Journal:

Year:

2012

Language:

english

File:

PDF, 1.00 MB

english, 2012

83

X-linked primary immunodeficiencies as a bridge to better understandingX-chromosome related autoimmunity

Itai M. Pessach, Luigi D. Notarangelo

Journal:

Journal of Autoimmunity

Year:

2009

Language:

english

File:

PDF, 318 KB

english, 2009

84

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

Rossella Parini, Francesca Furlan, Luigi Notarangelo, Antonella Spinazzola, Graziella Uziel, Pietro Strisciuglio, Daniela Concolino, Carlo Corbetta, Gabriella Nebbia, Francesca Menni, Giorgio Rossi, M

Journal:

Journal of Hepatology

Year:

2009

Language:

english

File:

PDF, 384 KB

english, 2009

85

Natural killer cell deficiencies and severe varicella infection

Luigi D. Notarangelo, Evelina Mazzolari

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 57 KB

english, 2006

86

Omenn syndrome in an infant with IL7RA gene mutation

Silvia Giliani, Carmen Bonfim, Genevieve de Saint Basile, Gaetana Lanzi, Nicole Brousse, Adriana Koliski, Mariester Malvezzi, Alain Fischer, Luigi D. Notarangelo, Francoise Le Deist

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 195 KB

english, 2006

87

Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome

Melinda Erdős, Gabriella Lakos, Beáta Dérfalvi, Luigi D. Notarangelo, Anne Durandy, László Maródi

Journal:

Molecular Immunology

Year:

2008

Language:

english

File:

PDF, 229 KB

english, 2008

88

Expression of Inducible Nitric Oxide Synthase in Human Granulomas and Histiocytic Reactions

Fabio Facchetti, William Vermi, Simona Fiorentini, Marco Chilosi, Arnaldo Caruso, Marzia Duse, Luigi Daniele Notarangelo, Raffaele Badolato

Journal:

The American Journal of Pathology

Year:

1999

Language:

english

File:

PDF, 2.04 MB

english, 1999

89

Linker for Activation of T Cells (LAT), a Novel Immunohistochemical Marker for T Cells, NK Cells, Mast Cells, and Megakaryocytes: Evaluation in Normal and Pathological Conditions

Fabio Facchetti, John K.C. Chan, Weiguo Zhang, Andrea Tironi, Marco Chilosi, Silvia Parolini, Luigi D. Notarangelo, Lawrence E. Samelson

Journal:

The American Journal of Pathology

Year:

1999

Language:

english

File:

PDF, 3.59 MB

english, 1999

90

Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency

Necil Kutukculer, Serap Aksoylar, Savas Kansoy, Nazan Cetingul, Luigi D. Notarangelo

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 56 KB

english, 2003

91

A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies

Georg S. Wengler, Ornella Parolini, Maurilia Fiorini, Patrizia Mella, Hedy Smith, Alberto G. Ugazio, Luigi D. Notarangelo

Journal:

Year:

1997

Language:

english

File:

PDF, 636 KB

english, 1997

92

Partial V(D)J Recombination Activity Leads to Omenn Syndrome

Anna Villa, Sandro Santagata, Fabio Bozzi, Silvia Giliani, Annalisa Frattini, Luisa Imberti, Luisa Benerini Gatta, Hans D Ochs, Klaus Schwarz, Luigi D Notarangelo, Paolo Vezzoni, Eugenia Spanopoulou

Journal:

Year:

1998

Language:

english

File:

PDF, 312 KB

english, 1998

93

Primary immunodeficiency with microcephalia: Report of eight cases

I.B. Resnick, I.V. Kondratenko, L.D. Notarangelo, Luigi D. Notarangelo

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 230 KB

1998

94

Combined Immunodeficiencies Due to Defects in Signal Transduction: Defects of the γc-JAK3 Signaling Pathway as a Model

Luigi D. Notarangelo, Silvia Giliani, Patrizia Mella, R. Fabian Schumacher, Cinzia Mazza, Gianfranco Savoldi, Carmen Rodriguez-Pérez, Raffaele Badolato, Evelina Mazzolari, Fulvio Porta, Fabio Candotti

Journal:

Year:

2000

Language:

english

File:

PDF, 1.61 MB

english, 2000

95

Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers

Alessandro Plebani, Virginia Monafo, Roberto Cattaneo, Graziella Carella, Duilio Brugnoni, Fabio Facchetti, Simonetta Battocchio, Antonella Meini, Luigi D. Notarangelo, Marzia Duse, Alberto G. Ugazio

Journal:

Journal of the American Academy of Dermatology

Year:

1996

Language:

english

File:

PDF, 4.94 MB

english, 1996

96

Signaling via IL-2 and IL-4 in JAK3-Deficient Severe Combined Immunodeficiency Lymphocytes: JAK3-Dependent and Independent Pathways

Scott A. Oakes, Fabio Candotti, James A. Johnston, Yi-Qing Chen, John J. Ryan, Naomi Taylor, Xiuwen Liu, Lothar Hennighausen, Luigi D. Notarangelo, William E. Paul, R.Michael Blaese, John J. O'Shea

Journal:

Year:

1996

Language:

english

File:

PDF, 4.55 MB

english, 1996

97

C4b-Binding Protein (C4BP) Activates B Cells through the CD40 Receptor

Scott R. Brodeur, Federica Angelini, Leonard B. Bacharier, Anna M. Blom, Emiko Mizoguchi, Hiroshi Fujiwara, Alessandro Plebani, Luigi D. Notarangelo, Bjorn Dahlback, Erdyni Tsitsikov, Raif S. Geha

Journal:

Year:

2003

Language:

english

File:

PDF, 667 KB

english, 2003

98

Leukocyte adhesion deficiency in a child with severe oral involvement

Alessandra Majorana, Luigi D. Notarangelo, Enrico Savoldi, Giorgio Gastaldi, Francina Lozada-Nur

Journal:

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology

Year:

1999

Language:

english

File:

PDF, 438 KB

english, 1999

99

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency

Necil Kutukculer, Daniele Moratto, Yesim Aydinok, Vassilis Lougaris, Serap Aksoylar, Alessandro Plebani, Ferah Genel, Luigi D. Notarangelo

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 110 KB

english, 2003

100

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia, Tama Sobe, Fabian Glaser, Raquel Rabionet, Maria Lourdes Arbones, Angelo Notarangelo, Enzo Di Iorio, Massimo Carella, Leopoldo Zelante, Xavier Esti

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 844 KB

english, 2001

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