Genes required for B cell development

Por Conley, Mary Ellen
Publicado em 2003

Genetics of Hypogammaglobulinemia: What do we really know?

Por Conley, Mary Ellen
Publicado em 2009

Discovery of single-gene inborn errors of immunity by next generation sequencing

Por Conley, Mary Ellen, Casanova, Jean-Laurent
Publicado em 2014

Novel mechanisms control the folding and assembly of λ5/14.1 and VpreB to produce an intact surrogate light chain

Por Minegishi, Yoshiyuki, Hendershot, Linda M., Conley, Mary Ellen
Publicado em 1999

Status of Adults With X-Linked Agammaglobulinemia: Impact of Disease on Daily Lives, Quality of Life, Educational and Socioeconomic Status, Knowledge of Inheritance, and Reproducti...

Por Winkelstein, Jerry A., Conley, Mary Ellen, James, Cynthia, Howard, Vanessa, Boyle, John
Publicado em 2008

Mutations in Igα (CD79a) result in a complete block in B-cell development

Por Minegishi, Yoshiyuki, Coustan-Smith, Elaine, Rapalus, Lisa, Ersoy, Fügen, Campana, Dario, Conley, Mary Ellen
Publicado em 1999

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

Por Casanova, Jean-Laurent, Conley, Mary Ellen, Seligman, Stephen J., Abel, Laurent, Notarangelo, Luigi D.
Publicado em 2014

Agammaglobulinemia associated with BCR(−) B cells and enhanced expression of CD19

Por Dobbs, A. Kerry, Bosompem, Amma, Coustan-Smith, Elaine, Tyerman, Gayle, Saulsbury, Frank T., Conley, Mary Ellen
Publicado em 2011

Mutations in the Human λ5/14.1 Gene Result in B Cell Deficiency and Agammaglobulinemia

Por Minegishi, Yoshiyuki, Coustan-Smith, Elaine, Wang, Yui-Hsi, Cooper, Max D., Campana, Dario, Conley, Mary Ellen
Publicado em 1998

CD19 controls TLR9 responses in human B cells

Por Morbach, Henner, Schickel, Jean-Nicolas, Cunningham-Rundles, Charlotte, Conley, Mary Ellen, Reisli, Ismail, Franco, Jose Luis, Meffre, Eric
Publicado no J Allergy Clin Immunol (2015)

A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(–) B cells

Por Boisson, Bertrand, Wang, Yong-Dong, Bosompem, Amma, Ma, Cindy S., Lim, Annick, Kochetkov, Tatiana, Tangye, Stuart G., Casanova, Jean-Laurent, Conley, Mary Ellen
Publicado em 2013

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

Por Conley, Mary Ellen, Dobbs, A. Kerry, Quintana, Anita M., Bosompem, Amma, Wang, Yong-Dong, Coustan-Smith, Elaine, Smith, Amber M., Perez, Elena E., Murray, Peter J.
Publicado em 2012

Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells

Por Hedayat, Mona, Massaad, Michel J., Lee, Yu Nee, Conley, Mary Ellen, Orange, Jordan S., Ohsumi, Toshiro K., Al-Herz, Waleed, Notarangelo, Luigi D., Geha, Raif S., Chou, Janet
Publicado em 2014

The International Union of Immunological Societies (IUIS) Primary Immunodeficiency Diseases (PID) Classification Committee

Por Geha, Raif. S., Notarangelo, Luigi. D., Casanova, Jean-Laurent, Chapel, Helen, Conley, Mary Ellen, Fischer, Alain, Hammarström, Lennart, Nonoyama, Shigeaki, Ochs, Hans D., Puck, Jennifer, Roifman, Chaim, Seger, Reinhard, Wedgwood, Josiah
Publicado em 2007

Molecular dissection of human B-cell tolerance – insights from patients with rare genetic diseases

Por Morbach, Henner, Meyers, Greta, Ng, Yen-Shing, Schickel, Jean-Nicolas, Menard, Laurence, Rudchenko, Sergei, Rojas, Jessica L, Cunningham-Rundles, Charlotte, Conley, Mary Ellen, Reisli, Ismail, Franco, Jose Luis, Meffre, Eric
Publicado no Mol Cell Pediatr (2014)

Clinical and molecular analysis of patients with defects in μ heavy chain gene

Por Lopez Granados, Eduardo, Porpiglia, Andrea S., Hogan, Mary Beth, Matamoros, Nuria, Krasovec, Silvia, Pignata, Claudio, Smith, C.I.E., Hammarstrom, Lennart, Bjorkander, Janne, Belohradsky, Bernd H., Casariego, G. Fontan, Garcia Rodriguez, M.C., Conley, Mary Ellen
Publicado em 2002

Primary immunodeficiencies: 2009 update: The International Union of Immunological Societies (IUIS) Primary Immunodeficiencies (PID) Expert Committee

Por Notarangelo, Luigi D., Fischer, Alain, Geha, Raif. S., Casanova, Jean-Laurent, Chapel, Helen, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Etzioni, Amos, Hammartröm, Lennart, Nonoyama, Shigeaki, Ochs, Hans D., Puck, Jennifer, Roifman, Chaim, Seger, Reinhard, Wedgwood, Josiah
Publicado em 2009

Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans

Por Meyers, Greta, Ng, Yen-Shing, Bannock, Jason M., Lavoie, Aubert, Walter, Jolan E., Notarangelo, Luigi D., Kilic, Sara S., Aksu, Guzide, Debré, Marianne, Rieux-Laucat, Frédéric, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Durandy, Anne, Meffre, Eric
Publicado em 2011

Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire

Por Weller, Sandra, Braun, Moritz C., Tan, Bruce K., Rosenwald, Andreas, Cordier, Corinne, Conley, Mary Ellen, Plebani, Alessandro, Kumararatne, Dinakhanta S., Bonnet, Damien, Tournilhac, Olivier, Tchernia, Gil, Steiniger, Birte, Staudt, Louis M., Casanova, Jean-Laurent, Reynaud, Claude-Agnès, Weill, Jean-Claude
Publicado em 2004

Gross Deletions Involving IGHM, BTK, or Artemis: A Model for Genomic Lesions Mediated by Transposable Elements

Por van Zelm, Menno C., Geertsema, Corinne, Nieuwenhuis, Nicole, de Ridder, Dick, Conley, Mary Ellen, Schiff, Claudine, Tezcan, Ilhan, Bernatowska, Ewa, Hartwig, Nico G., Sanders, Elisabeth A.M., Litzman, Jiri, Kondratenko, Irina, van Dongen, Jacques J.M., van der Burg, Mirjam
Publicado em 2008