Giliani, S.: search on Z-Library

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1

Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience

Pasic, Srdjan, Vujic, Dragana, VeljkoviÄ, Dobrila, Slavkovic, Bojana, Mostarica-Stojkovic, Marija, Minic, Predrag, Minic, Aleksandra, Ristic, Goran, Giliani, Silvia, Villa, Anna, Sobacchi, Cristina,

Journal:

Journal of Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 191 KB

english, 2014

2

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications

De Rose, Domenico Umberto, Giliani, Silvia, Notarangelo, Lucia Dora, Lougaris, Vassilios, Lanfranchi, Arnalda, Moratto, Daniele, Martire, Baldassarre, Specchia, Fernando, Tommasini, Alberto, Plebani,

Journal:

Clinical Immunology

Year:

2018

Language:

english

File:

PDF, 802 KB

english, 2018

3

Reversible Severe Combined Immunodeficiency Phenotype Secondary to a Mutation of the Proton-Coupled Folate Transporter

Borzutzky, A., Crompton, B., Neuwirth, A.K., Giliani, S., Neufeld, E.J., Notarangelo, L.D.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

4

Interleukin-7 receptor α (IL-7Rα) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients

Silvia Giliani, Luigi Mori, Geneviève De Saint Basile, Francoise Le Deist, Carmen Rodriguez-Perez, Concetta Forino, Evelina Mazzolari, Sophie Dupuis, Ronit Elhasid, Aharon Kessel, Claire Galambrun, Ju

Journal:

Immunological Reviews

Year:

2005

Language:

english

File:

PDF, 1.98 MB

english, 2005

5

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

6

Once-Only Sigmoidoscopy Screening for Colorectal Cancer: Incidence and Mortality Follow-up of the Italian Randomized Controlled Trial (SCORE)

Nereo Segnan, Carlo Senore, Luigina A. Bonelli, Bruno Andreoni, Orietta Giliani, Adriano Giacomin, Marco Zappa, Mauro Risio, Stefania Sciallero, Luigi Bisanti, Cristiano Crosta, Arrigo Arrigoni, Paola

Journal:

Gastroenterology

Year:

2011

Language:

english

File:

PDF, 40 KB

english, 2011

7

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

Walter, J. E., Rucci, F., Patrizi, L., Recher, M., Regenass, S., Paganini, T., Keszei, M., Pessach, I., Lang, P. A., Poliani, P. L., Giliani, S., Al-Herz, W., Cowan, M. J., Puck, J. M., Bleesing, J.,

Journal:

Journal of Experimental Medicine

Year:

2010

Language:

english

File:

PDF, 2.39 MB

english, 2010

8

Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?

Moro, Ruggero, Fabiano, Antonella, Calzavara-Pinton, Piergiacomo, Cardinale, Jacopo, Palumbo, Giovanni, Giliani, Silvia, Lanzi, Gaetana, Antonelli, Francesca, De Simone, Micaela, Martelli, Paola, Fazz

Journal:

Dermatology and Therapy

Year:

2019

Language:

english

File:

PDF, 862 KB

english, 2019

9

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.

Lanzi, Gaetana, Ferraro, Rosalba Monica, Masneri, Stefania, Piovani, Giovanna, Barisani, Chiara, Sobacchi, Cristina, Villa, Anna, Vezzoni, Paolo, Giliani, Silvia

Journal:

Stem Cell Research

Year:

2020

Language:

english

File:

PDF, 1.25 MB

english, 2020

10

Damaging-agent sensitivity of Artemis-deficient cell lines

Antonio Musio, Veronica Marrella, Cristina Sobacchi, Francesca Rucci, Laura Fariselli, Silvia Giliani, Gaetana Lanzi, Luigi D. Notarangelo, Domenico Delia, Roberto Colombo, Paolo Vezzoni, Anna Villa

Journal:

European Journal of Immunology

Year:

2005

Language:

english

File:

PDF, 179 KB

english, 2005

11

Report of the ESID collaborative study on clinical features and molecular analysis in X-linked hyper-IgM syndrome

L.D. Notarangelo, S. Giliani, A. Jones, G. de Saint Basile, M. Fiorini, P. Toniati, P. Mella, M. Vihinen

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 258 KB

1998

12

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

Chou, Janet, Hanna-Wakim, Rima, Tirosh, Irit, Kane, Jennifer, Fraulino, David, Lee, Yu Nee, Ghanem, Soha, Mahfouz, Iman, Mégarbané, André, Lefranc, Gérard, Inati, Adlette, Dbaibo, Ghassan, Giliani, Si

Journal:

Journal of Allergy and Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 132 KB

english, 2012

13

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

Felgentreff, K., Du, L., Weinacht, K. G., Dobbs, K., Bartish, M., Giliani, S., Schlaeger, T., DeVine, A., Schambach, A., Woodbine, L. J., Davies, G., Baxi, S. N., van der Burg, M., Bleesing, J., Genne

Journal:

Proceedings of the National Academy of Sciences

Year:

2014

Language:

english

File:

PDF, 922 KB

english, 2014

14

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

15

Omenn syndrome: Partial RAG1 and RAG2 deficiency

F. Bozzi, E. Spanopoulou, S. Santagata, D. Strina, S. Giliani, L.D. Notarangelo, H.D. Ochs, L. Imberti, P. Vezzoni, A. Villa

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 240 KB

1998

16

Aicardi–Goutieres syndrome, a rare neurological disease in children: A new autoimmune disorder?

Fazzi, Elisa, Cattalini, Marco, Orcesi, Simona, Tincani, Angela, Andreoli, L., Balottin, U., De Simone, M., Fredi, M., Facchetti, F., Galli, J., Giliani, S., Izzotti, A., Meini, A., Olivieri, I., Pleb

Journal:

Autoimmunity Reviews

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

17

Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression

Paola Allavena, Raffaele Badolato, Fabio Facchetti, William Vermi, Carla Paganin, Walter Luini, Silvia Giliani, Cinzia Mazza, Ugo Bolzern, Ivana Chiesa, Luigi Notarangelo, Alberto Mantovani, Silvano S

Journal:

European Journal of Immunology

Year:

2001

Language:

english

File:

PDF, 293 KB

english, 2001

18

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

19

Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies

Pessach, Itai M., Ordovas-Montanes, Jose, Zhang, Shen-Ying, Casanova, Jean-Laurent, Giliani, Silvia, Gennery, Andrew R., Al-Herz, Waleed, Manos, Philip D., Schlaeger, Thorsten M., Park, In-Hyun, Rucci

Journal:

Journal of Allergy and Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 1.32 MB

english, 2011

20

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Villa, A., Notarangelo, L. D., Di Santo, J. P., Macchi, P. P., Strina, D., Frattini, A., Lucchini, F., Patrosso, C. M., Giliani, S., Mantuano, E.

Journal:

Proceedings of the National Academy of Sciences

Year:

1994

Language:

english

File:

PDF, 1.29 MB

english, 1994

21

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.

Lanzi, Gaetana, Ferraro, Rosalba Monica, Masneri, Stefania, Piovani, Giovanna, Barisani, Chiara, Sobacchi, Cristina, Villa, Anna, Vezzoni, Paolo, Giliani, Silvia

Journal:

Stem Cell Research

Year:

2020

File:

PDF, 1.25 MB

2020

22

Sine causa tetraparesis

Galli, Jessica, Gavazzi, Francesco, De Simone, Micaela, Giliani, Silvia, Garau, Jessica, Valente, Marialuisa, Vairo, Donatella, Cattalini, Marco, Mortilla, Marzia, Andreoli, (Laura, Badolato, Raffaele

Journal:

Year:

2018

File:

PDF, 717 KB

2018

23

Defective Expression of CD40 Ligand on T Cells Causes “X-Linked Immunodeficiency with Hyper-IgM (HIGM1)”

Richard A. Kroczek, Daniel Graf, Duilio Brugnoni, Silvia Giliani, Ulf Korthäuer, Alberto Ugazio, Gabriele Senger, Hans W. Mages, Anna Villa, Luigi D. Notarangelo

Journal:

Immunological Reviews

Year:

1994

Language:

english

File:

PDF, 6.16 MB

english, 1994

24

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

Macchi, Paolo, Villa, Anna, Giliani, Silvia, Sacco, Maria G., Frattini, Annalisa, Porta, Fulvio, Ugazio, Alberto G., Johnston, James A., Candotti, Fabio, O'Sheai, John J.

Journal:

Year:

1995

File:

PDF, 865 KB

1995

25

Stem cell transplantation for the Wiskott–Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation

Pai, S-Y, DeMartiis, D, Forino, C, Cavagnini, S, Lanfranchi, A, Giliani, S, Moratto, D, Mazza, C, Porta, F, Imberti, L

Journal:

Bone Marrow Transplantation

Year:

2006

Language:

english

File:

PDF, 220 KB

english, 2006

26

The spleen in the wiskott-aldrich syndrome: White pulp changes correlate with the clinical phenotype of the disease

F. Facchetti, W. Vermi, L. Blanzuoli, P.G. Grigolato, F. Donato, S. Giliani, L.D. Notarangelo

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 299 KB

1998

27

Molecular, biochemical and immuno-cytochemical analysis in families with WAS/XLT

S. Giliani, M. Fiorini, P. Mella, W. Vermi, R. Franceschini, L. Imberti, R.F. Schumacher, F. Boe, F. Facchetti, L.D. Notarangelo

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 286 KB

1998

28

Prenatal molecular diagnosis of Wiskott–Aldrich syndrome by direct mutation analysis

S. Giliani, M. Fiorini, P. Mella, F. Candotti, R. F. Schumacher, G. S. Wengler, F. Lalatta, A. Fasth, R. Badolato, A. G. Ugazio, A. Albertini, L. D. Notarangelo

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 317 KB

english, 1999

29

First report of successful stem cell transplantation in a child with CD40 deficiency

Mazzolari, E, Lanzi, G, Forino, C, Lanfranchi, A, Aksu, G, Ozturk, C, Giliani, S, Notarangelo, L D, Kutukculer, N

Journal:

Bone Marrow Transplantation

Year:

2007

Language:

english

File:

PDF, 123 KB

english, 2007

30

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy

Stefanini, Miria, Lagomarsini, Paola, Giliani, Silvia, Nardo, Tiziana, Botta, Elena, Peserico, Andrea, Kleijer, Wim J., Lehmann, Alan R., Sarasin, Alain

Journal:

Year:

1993

Language:

english

File:

PDF, 501 KB

english, 1993

31

Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia

Tripodi, Serena I., Corti, Paola, Giliani, Silvia, Lanfranchi, Arnalda, Biondi, Andrea, Badolato, Raffaele

Journal:

Frontiers in Pediatrics

Year:

2018

Language:

english

File:

PDF, 379 KB

english, 2018

32

Carbonization of polymer precursors substrates to direct human iPSC-derived neurons differentiation and maturation

Ferraro, R.M., Ginestra, P.S., Giliani, S., Ceretti, E.

Journal:

Year:

2020

File:

PDF, 1.50 MB

2020

33

Prenatal diagnosis of JAK3 deficient SCID

R. F. Schumacher, P. Mella, F. Lalatta, M. Fiorini, S. Giliani, A. Villa, F. Candotti, Luigi D. Notarangelo

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 252 KB

english, 1999

34

The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies

Katja G Weinacht, Patrick M Brauer, Kerstin Felgentreff, Alex Devine, Andrew R Gennery, Silvia Giliani, Waleed Al-Herz, Axel Schambach, Juan Carlos Zúñiga-Pflücker, Luigi D Notarangelo

Journal:

Current Opinion in Immunology

Year:

2012

Language:

english

File:

PDF, 902 KB

english, 2012

35

Xeroderma pigmentosum complementation group H falls into complementation group D

Vermeulen, W., Stefanini, M., Giliani, S., Hoeijmakers, J.H.J., Bootsma, D.

Journal:

Mutation Research/DNA Repair

Year:

1991

Language:

english

File:

PDF, 922 KB

english, 1991

36

DNA repair investigations in nine Italian patients affected by trichothiodystrophy

Stefanini, M., Giliani, S., Nardo, T., Marinoni, S., Nazzaro, V., Rizzo, R., Trevisan, G.

Journal:

Mutation Research/DNA Repair

Year:

1992

Language:

english

File:

PDF, 525 KB

english, 1992

37

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNÎ³R1 Deficiency

Dotta, Laura, Vairo, Donatella, Giacomelli, Mauro, Moratto, Daniele, Tamassia, Nicola, Vermi, William, Lonardi, Silvia, Casanova, Jean-Laurent, Bustamante, Jacinta, Giliani, Silvia, Badolato, Raffaele

Journal:

Frontiers in Immunology

Year:

2020

File:

PDF, 1.92 MB

2020

38

Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency

Evelina Mazzolari, Donatella de Martiis, Concetta Forino, Arnalda Lanfranchi, Silvia Giliani, Roberto Marzollo, Paolo Airò, Luisa Imberti, Fulvio Porta, Luigi D. Notarangelo

Journal:

Immunologic Research

Year:

2009

Language:

english

File:

PDF, 444 KB

english, 2009

39

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding

Massaad, Michel J., Ramesh, Narayanaswamy, Le Bras, Severine, Giliani, Silvia, Notarangelo, Lucia D., Al-Herz, Waleed, Notarangelo, Luigi D., Geha, Raif S.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 2.04 MB

english, 2011

40

Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D

Mondello, Chiara, Nardo, Tiziana, Giliani, Silvia, Arrand, Janet E., Weber, Christine A., Lehmann, Alan R., Nuzzo, Fiorella, Stefanini, Miria

Journal:

Mutation Research/DNA Repair

Year:

1994

Language:

english

File:

PDF, 897 KB

english, 1994

41

Novel presentation of Omenn syndrome in association with aniridia

Sheehan, William J., Delmonte, Ottavia M., Miller, David T., Roberts, Amy E., Bonilla, Francisco A., Morra, Massimo, Giliani, Silvia, Pai, Sung-Yun, Notarangelo, Luigi D., Oettgen, Hans C.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 305 KB

english, 2009

42

PAX1 is essential for development and function of the human thymus

Yamazaki, Yasuhiro, Urrutia, Raul, Franco, Luis M., Giliani, Silvia, Zhang, Kejian, Alazami, Anas M., Dobbs, A. Kerry, Masneri, Stefania, Joshi, Avni, Otaizo-Carrasquero, Francisco, Myers, Timothy G.,

Journal:

Science Immunology

Year:

2020

File:

PDF, 1.07 MB

2020

43

A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

Claudia Fiorini, Sawssen Jilani, Claretta Gioia Losi, Antonietta Silini, Silvia Giliani, Simona Ferrari, Luigi D. Notarangelo, Alessandro Plebani, Taher Sfar, Ahmed Helal

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 210 KB

english, 2004

44

Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients

Alessandra Pangrazio, Maria Elena Caldana, Cristina Sobacchi, Cristina Panaroni, Lucia Susani, Ercan Mihci, Maria Luigia Cavaliere, Silvia Giliani, Anna Villa, Annalisa Frattini

Journal:

Journal of Bone and Mineral Research

Year:

2009

Language:

english

File:

PDF, 490 KB

english, 2009

45

Mechanisms of primary immunodeficiencies: from bed-side to bench and back

Luigi D. Notarangelo, Evelina Mazzolari, Concetta Forino, Silvia Giliani

Journal:

Drug Discovery Today: Disease Mechanisms

Year:

2004

Language:

english

File:

PDF, 353 KB

english, 2004

46

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation

Abraham, Roshini S., Recher, Mike, Giliani, Silvia, Walter, Jolan E., Lee, Yu Nee, Frugoni, Francesco, Maddox, Daniel E., Kirmani, Salman, Notarangelo, Luigi D.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 383 KB

english, 2013

47

Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen

Saettini, F., Pelagatti, M.A., Sala, D., Moratto, D., Giliani, S., Badolato, R., Biondi, A.

Journal:

Immunology Letters

Year:

2017

Language:

english

File:

PDF, 161 KB

english, 2017

48

Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face?

De Francesco, Maria Antonia, Ianiro, Giovanni, Monini, Marina, Vezzoli, Cesare, Schumacher, Richard Fabian, Giliani, Silvia, Lorenzin, Giovanni, Gurrieri, Francesca, Caruso, Arnaldo

Journal:

Year:

2019

Language:

english

File:

PDF, 187 KB

english, 2019

49

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Boisson, Bertrand, Laplantine, Emmanuel, Prando, Carolina, Giliani, Silvia, Israelsson, Elisabeth, Xu, Zhaohui, Abhyankar, Avinash, Israël, Laura, Trevejo-Nunez, Giraldina, Bogunovic, Dusan, Cepika, A

Journal:

Nature Immunology

Year:

2012

Language:

english

File:

PDF, 1.60 MB

english, 2012

50

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children

Susanna Esposito, Claudio Giuseppe Molteni, Silvia Giliani, Cinzia Mazza, Alessia Scala, Laura Tagliaferri, Claudio Pelucchi, Emilio Fossali, Alessandro Plebani, Nicola Principi

Journal:

Virology Journal

Year:

2012

Language:

english

File:

PDF, 183 KB

english, 2012

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