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X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
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X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Booth, Claire ; Gilmour, Kimberly C. ; Veys, Paul ; Gennery, Andrew R. ; Slatter, Mary A. ; Chapel, Helen ; Heath, Paul T. ; Steward, Colin G. ; Smith, Owen ; O'Meara, Anna ; Kerrigan, Hilary ; Mahlaoui, Nizar ; Cavazzana-Calvo, Marina ; Fischer, Alain ; Moshous, Despina ; Blanche, Stephane ; Pachlopnik Schmid, Jana ; Latour, Sylvain ; de Saint-Basile, Genevieve ; Albert, Michael ; Notheis, Gundula ; Rieber, Nikolaus ; Strahm, Brigitte ; Ritterbusch, Henrike ; Lankester, Arjan ; Hartwig, Nico G. ; Meyts, Isabelle ; Plebani, Alessandro ; Soresina, Annarosa ; Finocchi, Andrea ; Pignata, Claudio ; Cirillo, Emilia ; Bonanomi, Sonia ; Peters, Christina ; Kalwak, Krzysztof ; Pasic, Srdjan ; Sedlacek, Petr ; Jazbec, Janez ; Kanegane, Hirokazu ; Nichols, Kim E. ; Hanson, I. Celine ; Kapoor, Neena ; Haddad, Elie ; Cowan, Morton ; Choo, Sharon ; Smart, Joanne ; Arkwright, Peter D. ; Gaspar, Hubert B.

Blood, 2011-01, Vol.117 (1), p.53-62 [Periódico revisado por pares]

Washington, DC: Elsevier Inc

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2
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity
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Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity

Vallée, Tanja C ; Glasmacher, Jannik S ; Buchner, Hannes ; Arkwright, Peter D ; Behrends, Uta ; Bondarenko, Anastasia ; Browning, Michael J ; Buchbinder, David K ; Cattoni, Alessandro ; Chernyshova, Liudmyla ; Ciznar, Peter ; Cole, Theresa ; Czogala, Wojciech ; Dueckers, Gregor ; Edgar, John David M ; Erbey, Fatih ; Fasth, Anders ; Ferrua, Francesca ; Formankova, Renata ; Gambineri, Eleonora ; Gennery, Andrew R ; Goldman, Frederick D ; Gonzalez-Granado, Luis Ignacio ; Heilmann, Carsten ; Heiskanen-Kosma, Tarja ; Juntti, Hanna ; Kainulainen, Leena ; Kanegane, Hirokazu ; Karaca, Neslihan E ; Kilic, Sara S ; Klein, Christoph ; Koltan, MD, PhD, Sylwia ; Kondratenko, Irina ; Meyts, Isabelle ; Nasrullayeva, Gulnara M ; Notarangelo, Lucia Dora ; Pasic, Srdjan ; Pellier, Isabelle ; Pignata, Claudio ; Misbah, Siraj Ahmed ; Schulz, Ansgar S ; Segundo, Gesmar Rs ; Shcherbina, Anna ; Slatter, Mary A ; Sokolic, Robert ; Soler-Palacin, Pere ; Stepensky, Polina ; van Montfrans, Joris M ; Ryhänen, Samppa ; Wolska-Kuśnierz, MD, PhD, Beata ; Ziegler, John B ; Zhao, Xiaodong ; Aiuti, Alessandro ; Ochs, Hans D ; Albert, Michael H

Blood, 2024-04 [Periódico revisado por pares]

United States

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3
Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life
Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life
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Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Glasmacher, Jannik S ; Bittner, Tanja C ; Ochs, Hans D ; Aiuti, Alessandro ; Arkwright, Peter D ; Balashov, Dmitry ; Behrends, Uta ; Belohradsky, Bernd H. ; Bertoni, Elisa ; Buchbinder, David K. ; Browning, Michael ; Bondarenko, Anastasiia ; Candotti, Fabio ; Cattoni, Alessandro ; Chernyshova, Liudmyla ; Chewning, Joseph H. ; Ciznar, Peter ; Cole, Theresa ; Costa-Carvalho, Beatriz T ; Czogala, Wojciech ; Dueckers, Gregor ; Edgar, David M ; Erbey, Fatih ; Fasth, Anders ; Formankova, Renata ; Freiberger, Tomas ; Gambineri, Eleonora ; Gennery, Andrew ; Goldman, Frederick D ; Gonzalez-Granado, Luis I ; Gulmaraes, Tiago N ; Hagin, David ; Hauck, Fabian ; Heiskanen-Kosma, Tarja ; Hoenig, Manfred ; Juntti, Hanna ; Kanegane, Hirokazu ; Kainulainen, Leena ; Karaca, Neslihan E ; Kilic, Sara S ; Klein, Christoph ; Koltan, Sylwia ; Kondratenko, Irina ; Liu, Dawei ; Matthes, Susanne ; Mazzucchelli, Juliana T L ; Meyts, Isabelle ; Misbah, Siraj ; Nademi, Zohreh ; Nasrullayeva, Gulnara ; Notarangelo, Lucia D ; Soler-Palacin, Pere ; Pashchenko, Olga ; Pasic, Srdjan ; Pellier, Isabelle ; Pignata, Claudio ; Roepstorff, Camilla ; Schuetz, Catharina ; Schulz, Ansgar S ; Segundo, Gesmar R S ; Shcherbina, Anna ; Smart, Joanne ; Sokolic, Robert A. ; Stepensky, Polina ; Torgerson, Troy ; Vakhlyarskaya, Svetlana ; van Montfrans, Joris ; Vettenranta, Kim ; Wolska-Kusnierz, Beata ; Zhao, Xiaodong ; Ziegler, John B ; Zhang, Xuan ; Albert, Michael H.

Blood, 2016-12, Vol.128 (22), p.366-366 [Periódico revisado por pares]

Elsevier Inc

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4
V(D)J recombination defects in lymphocytes due to RAG mutations : severe immunodeficiency with a spectrum of clinical presentations
V(D)J recombination defects in lymphocytes due to RAG mutations : severe immunodeficiency with a spectrum of clinical presentations
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V(D)J recombination defects in lymphocytes due to RAG mutations : severe immunodeficiency with a spectrum of clinical presentations

VILLA, Anna ; SOBACCHI, Cristina ; CORTES, Patricia ; DUSE, Marzia ; FASTH, Anders ; FILIPOVICH, Alexandra M ; INFANTE, Anthony J ; JONES, Alison ; MAZZOLARI, Evelina ; MULLER, Susanna M ; PASIC, Srdjan ; RECHAVI, Gideon ; NOTARANGELO, Luigi D ; SACCO, Maria Grazia ; SANTAGATA, Sandro ; SCHROEDER, Marlis L ; SEGER, Reinhard ; STRINA, Dario ; UGAZIO, Alberto ; VÄLIAHO, Jouni ; VIHINEN, Mauno ; VOGLER, Larry B ; OCHS, Hans ; BOZZI, Fabio ; VEZZONI, Paolo ; FRIEDRICH, Wilhelm ; SCHWARZ, Klaus ; ABINUN, Mario ; ABRAHAMSEN, Tore G ; ARKWRIGHT, Peter D ; BANIYASH, Michal ; BROOKS, Edward G ; CONLEY, Mary Ellen

Blood, 2001, Vol.97 (1), p.81-88 [Periódico revisado por pares]

Washington, DC: The Americain Society of Hematology

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5
Wiskott-Aldrich syndrome: a retrospective study of 577 patients defines the genotype as a predictive biomarker for disease severity and survival
Wiskott-Aldrich syndrome: a retrospective study of 577 patients defines the genotype as a predictive biomarker for disease severity and survival
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Artigo 		Adicionar ao Meu Espaço

Wiskott-Aldrich syndrome: a retrospective study of 577 patients defines the genotype as a predictive biomarker for disease severity and survival

Vallée, Tanja C. ; Glasmacher, Jannik S. ; Buchner, Hannes ; Arkwright, Peter D. ; Behrends, Uta ; Bondarenko, Anastasia ; Browning, Michael J. ; Buchbinder, David ; Cattoni, Alessandro ; Chernyshova, Liudmyla ; Ciznar, Peter ; Cole, Theresa ; Czogała, Wojciech ; Dueckers, Gregor ; Edgar, John David M. ; Erbey, Fatih ; Fasth, Anders ; Ferrua, Francesca ; Formankova, Renata ; Gambineri, Eleonora ; Gennery, Andrew R. ; Goldman, Frederick D. ; Gonzalez-Granado, Luis I. ; Heilmann, Carsten ; Heiskanen-Kosma, Tarja ; Juntti, Hanna ; Kainulainen, Leena ; Kanegane, Hirokazu ; Karaca, Neslihan E. ; Sebnem Kilic, Sara ; Klein, Christoph ; Kołtan, Sylwia ; Kondratenko, Irina ; Meyts, Isabelle ; Nasrullayeva, Gulnara M. ; Notarangelo, Lucia D. ; Pasic, Srdjan ; Pellier, Isabelle ; Pignata, Claudio ; Misbah, Siraj ; Schulz, Ansgar ; Segundo, Gesmar R. ; Shcherbina, Anna ; Slatter, Mary ; Sokolic, Robert ; Soler-Palacin, Pere ; Stepensky, Polina ; van Montfrans, Joris M. ; Ryhänen, Samppa ; Wolska-Kuśnierz, Beata ; Ziegler, John B. ; Zhao, Xiaodong ; Aiuti, Alessandro ; Ochs, Hans D. ; Albert, Michael H.

Blood [Periódico revisado por pares]

Elsevier Inc

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Citações Citado por
6
V(D)J recombination defects in lymphocytes due toRAG mutations: severe immunodeficiency with a spectrum of clinical presentations
V(D)J recombination defects in lymphocytes due toRAG mutations: severe immunodeficiency with a spectrum of clinical presentations
Material Type:
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V(D)J recombination defects in lymphocytes due toRAG mutations: severe immunodeficiency with a spectrum of clinical presentations

Villa, Anna ; Sobacchi, Cristina ; Notarangelo, Luigi D. ; Bozzi, Fabio ; Abinun, Mario ; Abrahamsen, Tore G. ; Arkwright, Peter D. ; Baniyash, Michal ; Brooks, Edward G. ; Conley, Mary Ellen ; Cortes, Patricia ; Duse, Marzia ; Fasth, Anders ; Filipovich, Alexandra M. ; Infante, Anthony J. ; Jones, Alison ; Mazzolari, Evelina ; Muller, Susanna M. ; Pasic, Srdjan ; Rechavi, Gideon ; Sacco, Maria Grazia ; Santagata, Sandro ; Schroeder, Marlis L. ; Seger, Reinhard ; Strina, Dario ; Ugazio, Alberto ; Väliaho, Jouni ; Vihinen, Mauno ; Vogler, Larry B. ; Ochs, Hans ; Vezzoni, Paolo ; Friedrich, Wilhelm ; Schwarz, Klaus

Blood, 2001-01, Vol.97 (1), p.81-88 [Periódico revisado por pares]

Elsevier Inc

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