Pesquisa | Biblioteca Virtual em Saúde

1.

Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.

Lun, Melody P; Shannon, Morgan L; Keles, Sevgi; Reisli, Ismail; Luche, Nicole; Ryan, Douglas; Capuder, Kelly; Notarangelo, Luigi D; Lehtinen, Maria K.

Am J Pathol; 189(12): 2440-2449, 2019 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-31541646

2.

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

Dobbs, Kerry; Domínguez Conde, Cecilia; Zhang, Shen-Ying; Parolini, Silvia; Audry, Magali; Chou, Janet; Haapaniemi, Emma; Keles, Sevgi; Bilic, Ivan; Okada, Satoshi; Massaad, Michel J; Rounioja, Samuli; Alwahadneh, Adel M; Serwas, Nina K; Capuder, Kelly; Çiftçi, Ergin; Felgentreff, Kerstin; Ohsumi, Toshiro K; Pedergnana, Vincent; Boisson, Bertrand; Haskologlu, Sule; Ensari, Arzu; Schuster, Michael; Moretta, Alessandro; Itan, Yuval; Patrizi, Ornella; Rozenberg, Flore; Lebon, Pierre; Saarela, Janna; Knip, Mikael; Petrovski, Slavé; Goldstein, David B; Parrott, Roberta E; Savas, Berna; Schambach, Axel; Tabellini, Giovanna; Bock, Christoph; Chatila, Talal A; Comeau, Anne Marie; Geha, Raif S; Abel, Laurent; Buckley, Rebecca H; Ikinciogullari, Aydan; Al-Herz, Waleed; Helminen, Merja; Dogu, Figen; Casanova, Jean-Laurent; Boztug, Kaan; Notarangelo, Luigi D.

N Engl J Med; 372(25): 2409-22, 2015 Jun 18.

Artigo em Inglês | MEDLINE | ID: mdl-26083206

3.

N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome.

Volpi, Stefano; Santori, Elettra; Abernethy, Katrina; Mizui, Masayuki; Dahlberg, Carin I M; Recher, Mike; Capuder, Kelly; Csizmadia, Eva; Ryan, Douglas; Mathew, Divij; Tsokos, George C; Snapper, Scott; Westerberg, Lisa S; Thrasher, Adrian J; Candotti, Fabio; Notarangelo, Luigi D.

Blood; 127(2): 216-20, 2016 Jan 14.

Artigo em Inglês | MEDLINE | ID: mdl-26468226

4.

Effect of repeated cycles of steam sterilization on the integrity of cannulated surgical screws.

Capuder, Kelly; Gill, Christopher; Hafez, Jawdat; Kawalec, Jill; Hetherington, Vincent.

Foot (Edinb); 39: 88-91, 2019 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-30981129

5.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi, Stefano; Yamazaki, Yasuhiro; Brauer, Patrick M; van Rooijen, Ellen; Hayashida, Atsuko; Slavotinek, Anne; Sun Kuehn, Hye; Di Rocco, Maja; Rivolta, Carlo; Bortolomai, Ileana; Du, Likun; Felgentreff, Kerstin; Ott de Bruin, Lisa; Hayashida, Kazutaka; Freedman, George; Marcovecchio, Genni Enza; Capuder, Kelly; Rath, Prisni; Luche, Nicole; Hagedorn, Elliott J; Buoncompagni, Antonella; Royer-Bertrand, Beryl; Giliani, Silvia; Poliani, Pietro Luigi; Imberti, Luisa; Dobbs, Kerry; Poulain, Fabienne E; Martini, Alberto; Manis, John; Linhardt, Robert J; Bosticardo, Marita; Rosenzweig, Sergio Damian; Lee, Hane; Puck, Jennifer M; Zúñiga-Pflücker, Juan Carlos; Zon, Leonard; Park, Pyong Woo; Superti-Furga, Andrea; Notarangelo, Luigi D.

J Exp Med; 214(3): 623-637, 2017 03 06.

Artigo em Inglês | MEDLINE | ID: mdl-28148688

6.

Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes.

Ott de Bruin, Lisa; Yang, Wei; Capuder, Kelly; Lee, Yu Nee; Antolini, Maddalena; Meyers, Robin; Gellert, Martin; Musunuru, Kiran; Manis, John; Notarangelo, Luigi.

Oncotarget; 7(11): 12962-74, 2016 Mar 15.

Artigo em Inglês | MEDLINE | ID: mdl-26887046

7.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter, Jolan E; Rosen, Lindsey B; Csomos, Krisztian; Rosenberg, Jacob M; Mathew, Divij; Keszei, Marton; Ujhazi, Boglarka; Chen, Karin; Lee, Yu Nee; Tirosh, Irit; Dobbs, Kerry; Al-Herz, Waleed; Cowan, Morton J; Puck, Jennifer; Bleesing, Jack J; Grimley, Michael S; Malech, Harry; De Ravin, Suk See; Gennery, Andrew R; Abraham, Roshini S; Joshi, Avni Y; Boyce, Thomas G; Butte, Manish J; Nadeau, Kari C; Balboni, Imelda; Sullivan, Kathleen E; Akhter, Javeed; Adeli, Mehdi; El-Feky, Reem A; El-Ghoneimy, Dalia H; Dbaibo, Ghassan; Wakim, Rima; Azzari, Chiara; Palma, Paolo; Cancrini, Caterina; Capuder, Kelly; Condino-Neto, Antonio; Costa-Carvalho, Beatriz T; Oliveira, Joao Bosco; Roifman, Chaim; Buchbinder, David; Kumanovics, Attila; Franco, Jose Luis; Niehues, Tim; Schuetz, Catharina; Kuijpers, Taco; Yee, Christina; Chou, Janet; Masaad, Michel J; Geha, Raif.

J Clin Invest; 125(11): 4135-48, 2015 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-26457731

8.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter, Jolan E; Rosen, Lindsey B; Csomos, Krisztian; Rosenberg, Jacob M; Mathew, Divij; Keszei, Marton; Ujhazi, Boglarka; Chen, Karin; Lee, Yu Nee; Tirosh, Irit; Dobbs, Kerry; Al-Herz, Waleed; Cowan, Morton J; Puck, Jennifer; Bleesing, Jack J; Grimley, Michael S; Malech, Harry; De Ravin, Suk See; Gennery, Andrew R; Abraham, Roshini S; Joshi, Avni Y; Boyce, Thomas G; Butte, Manish J; Nadeau, Kari C; Balboni, Imelda; Sullivan, Kathleen E; Akhter, Javeed; Adeli, Mehdi; El-Feky, Reem A; El-Ghoneimy, Dalia H; Dbaibo, Ghassan; Wakim, Rima; Azzari, Chiara; Palma, Paolo; Cancrini, Caterina; Capuder, Kelly; Condino-Neto, Antonio; Costa-Carvalho, Beatriz T; Oliveira, Joao Bosco; Roifman, Chaim; Buchbinder, David; Kumanovics, Attila; Franco, Jose Luis; Niehues, Tim; Schuetz, Catharina; Kuijpers, Taco; Yee, Christina; Chou, Janet; Masaad, Michel J; Geha, Raif.

J Clin Invest; 126(11): 4389, 2016 11 01.

Artigo em Inglês | MEDLINE | ID: mdl-27801680

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Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome.

Effect of repeated cycles of steam sterilization on the integrity of cannulated surgical screws.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.