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Journal Article
Plastic and Reconstructive Surgery - Global Open, ISSN 2169-7574, 08/2018, Volume 6, Issue 8, pp. e1886 - e1886
Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency characterized by impairment of leukocyte migration during an inflammatory response. LAD... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, p. 812
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.ajhg.2013.09.009 Byline: Karin Chen, Emily M. Coonrod, Attila... 
Research | Nucleotide sequencing | Gene mutations | Germplasm resources | DNA sequencing | Proteins | Genotype & phenotype | Antigens | Phosphorylation | Pathogenesis | Rodents | Mutation
Journal Article
Journal Article
by Ombrello, Michael J and Remmers, Elaine F and Tachmazidou, Ioanna and Grom, Alexei and Foell, Dirk and Haas, Johannes-Peter and Martini, Alberto and Gattorno, Marco and Özen, Seza and Prahalad, Sampath and Zeft, Anew S and Bohnsack, John F and Mellins, Elizabeth D and Ilowite, Norman T and Russo, Ricardo and Len, Claudio and Hilario, Maria Odete E and Oliveira, Sheila and Yeung, Rae S M and Rosenberg, Alan and Wedderburn, Lucy R and Anton, Jordi and Schwarz, Tobias and Hinks, Anne and Bilginer, Yelda and Park, Jane and Cobb, Joanna and Satorius, Colleen L and Han, Buhm and Baskin, Elizabeth and Signa, Sara and Duerr, Richard H and Achkar, J P and Kamboh, M Ilyas and Kaufman, Kenneth M and Kottyan, Leah C and Pinto, Dalila and Scherer, Stephen W and Alarcón-Riquelme, Marta E and Docampo, Elisa and Estivill, Xavier and Gül, Ahmet and de Bakker, Paul I W and Raychaudhuri, Soumya and Langefeld, Carl D and Thompson, Susan and Zeggini, Eleftheria and Thomson, Wendy and Kastner, Daniel L and Woo, Patricia and Int Childhood Arthritis Genetics and BSPAR Study Grp and BBOP Grp and Randomized Placebo Phase Study and CHARMS Grp and Childhood Arthritis Prospective Study (CAPS) Group and International Childhood Arthritis Genetics (INCHARGE) Consortium and British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group and Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators and Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group and Biologically Based Outcome Predictors in JIA (BBOP) Group
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2015, Volume 112, Issue 52, pp. 15970 - 15975
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2013, Volume 45, Issue 6, pp. 664 - 669
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 03/2014, Volume 133, Issue 3, p. 880
  Seven and 3 unrelated individuals were heterozygous for the c.1346G>A and c.3016A>G disease-associated RAG1 variants, respectively. [...]the predicted... 
Lupus | Bacterial infections | Disease | Families & family life | Genomes | Patients | Data bases | Proteins | Genotype & phenotype | Collagen | Population | Mutation | Autoimmune diseases | Siblings
Journal Article
by Ombrello, Michael J and Arthur, Victoria L and Remmers, Elaine F and Hinks, Anne and Tachmazidou, Ioanna and Grom, Alexei A and Foell, Dirk and Martini, Alberto and Gattorno, Marco and Özen, Seza and Prahalad, Sampath and Zeft, Andrew S and Bohnsack, John F and Ilowite, Norman T and Mellins, Elizabeth D and Russo, Ricardo and Len, Claudio and Hilario, Maria Odete E and Oliveira, Sheila and Yeung, Rae S M and Rosenberg, Alan M and Wedderburn, Lucy R and Anton, Jordi and Haas, Johannes-Peter and Rosen-Wolff, Angela and Minden, Kirsten and Tenbrock, Klaus and Demirkaya, Erkan and Cobb, Joanna and Baskin, Elizabeth and Signa, Sara and Shuldiner, Emily and Duerr, Richard H and Achkar, Jean-Paul and Kamboh, M Ilyas and Kaufman, Kenneth M and Kottyan, Leah C and Pinto, Dalila and Scherer, Stephen W and Alarcón-Riquelme, Marta E and Docampo, Elisa and Estivill, Xavier and Gül, Ahmet and Langefeld, Carl D and Thompson, Susan and Zeggini, Eleftheria and Kastner, Daniel L and Woo, Patricia and Thomson, Wendy and Childhood Arthrit Prospective Stud and Randomized Placebo Phase Study Ril and Biologically Based Outcome Predict and Inception Cohort Newly Diagnosed P and Sparks-Childhood Arthrit Response and British Soc Pediat Adolescent Rheu and British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group
Annals of the Rheumatic Diseases, ISSN 0003-4967, 05/2017, Volume 76, Issue 5, pp. 906 - 913
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 812 - 824
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by antibody deficiency, poor humoral response to antigens, and recurrent... 
Journal Article
by Kishi, Takayuki and Rider, Lisa G and Pak, Katherine and Barillas‐Arias, Lilliana and Henrickson, Michael and McCarthy, Paul L and Shaham, Bracha and Weiss, Pamela F and Horkayne‐Szakaly, Iren and Targoff, Ira N and Miller, Frederick W and Mammen, Andrew L and Abramson, Leslie S and Albert, Daniel A and Baer, Alan N and Balboni, Imelda M and Ballinger, Susan and Becker, Mara and Bingham, C. April and Bohnsack, John F and Botstein, Gary R and Carrasco, Ruy and Cartwright, Victoria W and Chao, Chun Peng T and Cron, Randy Q and Curiel, Rodolfo and DeGuzman, Marietta M and De la Pena, Wendy and Eberhard, B. Anne and Edelheit, Barbara S and Ellsworth, Janet and Finkel, Terri H and Fuhlbrigge, Robert C and Gabriel, Christos A and Gedalia, Abraham and Gewanter, Harry L and Goldmuntz, Ellen A and Goldsmith, Donald P and Gottlieb, Beth S and Graham, Brent and Griffin, Thomas A and Haftel, Hilary M and Hannan, William and Hennon, Teresa and Hoeltzel, Mark F and Hollister, J. Roger and Hopp, Russell J and Imundo, Lisa F and Jansen, Anna and Jarvis, James and Jerath, Rita S and Johnson, Courtney R and Jones, Olcay Y and Jung, Lawrence K and Kamdar, Ankur and Katona, Ildy M and Kim, Hanna and Kim, Susan and Kingsbury, Daniel J and Klein, Steven J and Lang, Bianca A and Levine, Johanan and Lindsley, Carol B and Mamyrova, Gulnara and Mitchell, Ray and Morishima, Chihiro and Moser, David W and Murphy, Frederick T and Myers, Linda K and Nanda, Kabita and Nativ, Simona and Oral, Elif A and Ostrov, Barbara E and Pappu, Ramesh and Parker, Christopher T and Passo, Murray H and Perez, Maria D and Person, Donald A and Punaro, Marilyn G and Rabinovich, C. Egla and Rennebohm, Robert M and Rivas‐Chacon, Rafael F and Ronis, Tova and Rosenkranz, Margalit and Schiffenbauer, Adam and Sheets, Robert M and Sherry, David D and Sills, Edward M and Sinal, Sara H and Stoll, Matthew and Sule, Sangeeta D and Sundel, Robert P and Vehe, Richard K and Vogelgesang, Scott A and Wargula, Jennifer C and Yung, Christine M and Zemel, Lawrence S and Childhood Myositis Heterogeneity S and Childhood Myositis Heterogeneity Study Group
Arthritis Care & Research, ISSN 2151-464X, 07/2017, Volume 69, Issue 7, pp. 1088 - 1094
Journal Article
by Arthur, Victoria L and Shuldiner, Emily and Remmers, Elaine F and Hinks, Anne and Grom, Alexei A and Foell, Dirk and Martini, Alberto and Gattorno, Marco and Özen, Seza and Prahalad, Sampath and Zeft, Andrew S and Bohnsack, John F and Ilowite, Norman T and Mellins, Elizabeth D and Russo, Ricardo and Len, Claudio and Oliveira, Sheila and Yeung, Rae S. M and Rosenberg, Alan M and Wedderburn, Lucy R and Anton, Jordi and Haas, Johannes‐Peter and Rösen‐Wolff, Angela and Minden, Kirsten and Szymanski, Ann Marie and Thomson, Wendy and Kastner, Daniel L and Woo, Patricia and Ombrello, Michael J and Achkar, Jean‐Paul and Alarcón‐Riquelme, Marta E and Anton, Jordi and Arthur, Victoria L and Baskin, Elizabeth and Bohnsack, John F and Cobb, Joanna and Demirkaya, Erkan and Docampo, Elisa and Duerr, Richard H and Estivill, Xavier and Foell, Dirk and Gattorno, Marco and Grom, Alexei and Gül, Ahmet and Hilario, Maria Odete E and Ilowite, Norman T and Haas, Johannes‐Peter and Hinks, Anne and Ilyas Kamboh, M and Kastner, Daniel L and Kaufman, Kenneth M and Kottyan, Leah C and Langefeld, Carl D and Len, Claudio and Martini, Alberto and Mellins, Elizabeth D and Minden, Kirsten and Oliveira, Sheila and Ombrello, Michael J and Özen, Seza and Pinto, Dalila and Prahalad, Sampath and Remmers, Elaine F and Rosen‐Wolff, Angela and Rosenberg, Alan and Russo, Ricardo and Scherer, Stephen W and Signa, Sara and Shuldiner, Emily and Szymanski, Ann Marie and Tachmazidou, Ioanna and Tenbrock, Klaus and Thompson, Susan and Thomson, Wendy and Wedderburn, Lucy R and Woo, Patricia and Yeung, Rae S. M and Zeft, Andrew S and Zeggini, Eleftheria and Baxter‐Jones, Adam and Benseler, Susanne and Boire, Gilles and Cabral, David A and Cameron, Bonnie and Campillo, Sarah and Chédeville, Gaëlle and Chetaille, Anne‐Laure and Dancey, Paul and Duffy, Ciaran and Duffy, Karen Watanabe and Ellsworth, Janet and Gibbon, Michele and Guillet, Chantal and Guzman, Jaime and Houghton, Kristin and Huber, Adam M and Jurencak, Roman and Lang, Bianca and Laxer, Ronald M and Maenz, Lynn and ... and INCHARGE Consortium
Arthritis & Rheumatology, ISSN 2326-5191, 08/2018, Volume 70, Issue 8, pp. 1319 - 1330