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Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
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Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Zielen, Stefan ; Duecker, Ruth Pia ; Woelke, Sandra ; Donath, Helena ; Bakhtiar, Sharhzad ; Buecker, Aileen ; Kreyenberg, Hermann ; Huenecke, Sabine ; Bader, Peter ; Mahlaoui, Nizar ; Ehl, Stephan ; El-Helou, Sabine M. ; Pietrucha, Barbara ; Plebani, Alessandro ; van der Flier, Michiel ; van Aerde, Koen ; Kilic, Sara S. ; Reda, Shereen M. ; Kostyuchenko, Larysa ; McDermott, Elizabeth ; Galal, Nermeen ; Pignata, Claudio ; Pérez, Juan Luis Santos ; Laws, Hans-Juergen ; Niehues, Tim ; Kutukculer, Necil ; Seidel, Markus G. ; Marques, Laura ; Ciznar, Peter ; Edgar, John David M. ; Soler-Palacín, Pere ; von Bernuth, Horst ; Krueger, Renate ; Meyts, Isabelle ; Baumann, Ulrich ; Kanariou, Maria ; Grimbacher, Bodo ; Hauck, Fabian ; Graf, Dagmar ; Granado, Luis Ignacio Gonzalez ; Prader, Seraina ; Reisli, Ismail ; Slatter, Mary ; Rodríguez-Gallego, Carlos ; Arkwright, Peter D. ; Bethune, Claire ; Deripapa, Elena ; Sharapova, Svetlana O. ; Lehmberg, Kai ; Davies, E. Graham ; Schuetz, Catharina ; Kindle, Gerhard ; Schubert, Ralf

Journal of clinical immunology, 2021-11, Vol.41 (8), p.1878-1892 [Periódico revisado por pares]

New York: Springer US

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2
Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantation
Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantation
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Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantation

de la Morena, M Teresa, MD ; Leonard, David, PhD ; Torgerson, Troy R., MD, PhD ; Cabral-Marques, Otavio, PhD ; Slatter, Mary, MD ; Aghamohammadi, Asghar, MD ; Chandra, Sharat, MD ; Murguia-Favela, Luis, MD ; Bonilla, Francisco, MD, PhD ; Kanariou, Maria, MD ; Damrongwatanasuk, Rongras, MD ; Kuo, Caroline Y., MD ; Dvorak, Christopher C., MD ; Meyts, Isabelle, MD ; Chen, Karin, MD ; Kobrynski, Lisa, MD, MPH ; Kapoor, Neena, MD ; Richter, Darko, MD ; DiGiovanni, Daniela, MD ; Dhalla, Fatima, MD ; Farmaki, Evangelia, MD ; Speckmann, Carsten, MD ; Espanol, Teresa, MD ; Shcherbina, Anna, MD ; Hanson, Celine, MD ; Litzman, Jiri, MD ; Routes, John, MD ; Wong, Melanie, MD, PhD ; Fuleihan, Ramsay, MD ; Seneviratne, Suranjith L., MD ; Small, Trudy N., MD ; Janda, Ales, MD ; Bezrodnik, Liliana, MD ; Seger, Reinhard, MD ; Raccio, Andrea Gomez, MD ; Edgar, J.David M., MD ; Chou, Janet, MD ; Abbott, Jordan K., MD ; van Montfrans, Joris, MD ; Gonzalez-Granado, Luis Ignacio, MD ; Bunin, Nancy, MD ; Kutukculer, Necil, MD ; Gray, Paul, MD ; Seminario, Gisela, MD ; Pasic, Srdjan, MD ; Aquino, Victor, MD ; Wysocki, Christian, MD, PhD ; Abolhassani, Hassan, MD ; Grunebaum, Eyal, MD ; Dorsey, Morna, MD ; Costa Carvalho, Beatriz Tavares, MD ; Condino-Neto, Antonio, MD ; Cunningham-Rundles, Charlotte, MD, PhD ; Knutsen, Alan P., MD ; Sleasman, John, MD ; Chapel, Helen, MD ; Ochs, Hans D., MD ; Filipovich, Alexandra, MD ; Cowan, Mort, MD ; Gennery, Andrew, MD ; Cant, Andrew, MD ; Notarangelo, Luigi D., MD ; Roifman, Chaim, MD

Journal of allergy and clinical immunology, 2017-04, Vol.139 (4), p.1282-1292 [Periódico revisado por pares]

United States: Elsevier Limited

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3
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Coulter, Tanya I., MRCPI ; Chandra, Anita, PhD, FRCPath ; Bacon, Chris M., PhD, FRCPath ; Babar, Judith, MRCP, FRCR ; Curtis, James, PhD ; Screaton, Nick, FRCP, FRCR ; Goodlad, John R., MD, FRCPath ; Farmer, George, MD ; Steele, Cathal Laurence, MB ; Leahy, Timothy Ronan, MRCPI ; Doffinger, Rainer, PhD, FRCPath ; Baxendale, Helen, PhD, FRCPath ; Bernatoniene, Jolanta, PhD ; Edgar, J. David M., FRCP, FRCPath ; Longhurst, Hilary J., PhD, FRCPath ; Ehl, Stephan, MD, PhD ; Speckmann, Carsten, MD ; Grimbacher, Bodo, MD, PhD ; Sediva, Anna, MD, PhD ; Milota, Tomas, MD ; Faust, Saul N., PhD, FRCPCH ; Williams, Anthony P., PhD, FRCPath ; Hayman, Grant, FRCP, FRCPath ; Kucuk, Zeynep Yesim, MD ; Hague, Rosie, MRCP, FRCPH ; French, Paul, MD, MRCS, DipFMS, FRCPath ; Brooker, Richard, FRCPCH ; Forsyth, Peter, FRCPath ; Herriot, Richard, FRCP, FRCPath ; Cancrini, Caterina, MD, PhD ; Palma, Paolo, MD, PhD ; Ariganello, Paola, MD ; Conlon, Niall, PhD, FRCPath ; Feighery, Conleth, PhD, FRCPath ; Gavin, Patrick J., MD ; Jones, Alison, PhD, FRCPCH ; Imai, Kohsuke, MD, PhD ; Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath ; Markelj, Gašper, MD ; Abinun, Mario, MD, PhD ; Rieux-Laucat, Frédéric, PhD ; Latour, Sylvain, PhD ; Pellier, Isabelle, MD, PhD ; Fischer, Alain, MD, PhD ; Touzot, Fabien, MD, PhD ; Casanova, Jean-Laurent, MD, PhD ; Durandy, Anne, MD, PhD ; Burns, Siobhan O., MD, PhD ; Savic, Sinisa, PhD, FRCPath ; Kumararatne, D.S., FRCPath, DPhil (Oxon) ; Moshous, Despina, MD, PhD ; Kracker, Sven, PhD ; Vanhaesebroeck, Bart, PhD, FMedSci ; Okkenhaug, Klaus, PhD ; Picard, Capucine, MD, PhD ; Nejentsev, Sergey, MD, PhD ; Condliffe, Alison M., PhD, FRCP ; Cant, Andrew James, MD, FRCP, FRCPH

Journal of allergy and clinical immunology, 2017-02, Vol.139 (2), p.597-606.e4 [Periódico revisado por pares]

United States: Mosby

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4
Rituximab for High-Risk, Mature B-Cell Non-Hodgkin’s Lymphoma in Children
Rituximab for High-Risk, Mature B-Cell Non-Hodgkin’s Lymphoma in Children
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Rituximab for High-Risk, Mature B-Cell Non-Hodgkin’s Lymphoma in Children

Minard-Colin, Véronique ; Aupérin, Anne ; Pillon, Marta ; Burke, G.A. Amos ; Barkauskas, Donald A ; Wheatley, Keith ; Delgado, Rafael F ; Alexander, Sarah ; Uyttebroeck, Anne ; Bollard, Catherine M ; Zsiros, József ; Csoka, Monika ; Kazanowska, Bernarda ; Chiang, Alan K ; Miles, Rodney R ; Wotherspoon, Andrew ; Adamson, Peter C ; Vassal, Gilles ; Patte, Catherine ; Gross, Thomas G

The New England journal of medicine, 2020-06, Vol.382 (23), p.2207-2219 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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5
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

D’Angelo, Debra ; Lebon, Sébastien ; Chen, Qixuan ; Martin-Brevet, Sandra ; Snyder, LeeAnne Green ; Hippolyte, Loyse ; Hanson, Ellen ; Maillard, Anne M ; Faucett, W. Andrew ; Macé, Aurélien ; Pain, Aurélie ; Bernier, Raphael ; Chawner, Samuel J. R. A ; David, Albert ; Andrieux, Joris ; Aylward, Elizabeth ; Baujat, Genevieve ; Caldeira, Ines ; Conus, Philippe ; Ferrari, Carrina ; Forzano, Francesca ; Gérard, Marion ; Goin-Kochel, Robin P ; Grant, Ellen ; Hunter, Jill V ; Isidor, Bertrand ; Jacquette, Aurélia ; Jønch, Aia E ; Keren, Boris ; Lacombe, Didier ; Le Caignec, Cédric ; Martin, Christa Lese ; Männik, Katrin ; Metspalu, Andres ; Mignot, Cyril ; Mukherjee, Pratik ; Owen, Michael J ; Passeggeri, Marzia ; Rooryck-Thambo, Caroline ; Rosenfeld, Jill A ; Spence, Sarah J ; Steinman, Kyle J ; Tjernagel, Jennifer ; Van Haelst, Mieke ; Shen, Yiping ; Draganski, Bogdan ; Sherr, Elliott H ; Ledbetter, David H ; van den Bree, Marianne B. M ; Beckmann, Jacques S ; Spiro, John E ; Reymond, Alexandre ; Jacquemont, Sébastien ; Chung, Wendy K

JAMA psychiatry (Chicago, Ill.), 2016-01, Vol.73 (1), p.1-11 [Periódico revisado por pares]

United States: American Medical Association

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6
Variation in human water turnover associated with environmental and lifestyle factors
Variation in human water turnover associated with environmental and lifestyle factors
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Variation in human water turnover associated with environmental and lifestyle factors

Yamada, Yosuke ; Zhang, Xueying ; Henderson, Mary E T ; Sagayama, Hiroyuki ; Pontzer, Herman ; Watanabe, Daiki ; Yoshida, Tsukasa ; Kimura, Misaka ; Ainslie, Philip N. ; Andersen, Lene Frost ; Anderson, Liam J. ; Arab, Lenore ; Baddou, Issad ; Bedu-Addo, Kweku ; Blaak, Ellen E. ; Blanc, Stephane ; Bonomi, Alberto G. ; Bouten, Carlijn V C ; Bovet, Pascal ; Buchowski, Maciej S. ; Butte, Nancy F. ; Camps, Stefan G. ; Close, Graeme L. ; Cooper, Jamie A. ; Cooper, Richard ; Das, Sai Krupa ; Dugas, Lara R. ; Eaton, Simon ; Ekelund, Ulf ; Entringer, Sonja ; Forrester, Terrence ; Fudge, Barry W. ; Goris, Annelies H. ; Gurven, Michael ; Halsey, Lewis G. ; Hambly, Catherine ; El Hamdouchi, Asmaa ; Hoos, Marije B. ; Hu, Sumei ; Joonas, Noorjehan ; Joosen, Annemiek M. ; Katzmarzyk, Peter ; Kempen, Kitty P. ; Kraus, William E. ; Kriengsinyos, Wantanee ; Kushner, Robert F. ; Lambert, Estelle V. ; Leonard, William R. ; Lessan, Nader ; Martin, Corby K. ; Medin, Anine Christine ; Meijer, Erwin P. ; Morehen, James C. ; Morton, James P. ; Neuhouser, Marian L. ; Nicklas, Theresa A. ; Ojiambo, Robert M. ; Pietiläinen, Kirsi H. ; Pitsiladis, Yannis P. ; Plange-Rhule, Jacob ; Plasqui, Guy ; Prentice, Ross L. ; Rabinovich, Roberto A. ; Racette, Susan B. ; Raichlen, David A. ; Ravussin, Eric ; Redman, Leanne M. ; Reilly, John J. ; Reynolds, Rebecca M. ; Roberts, Susan B. ; Schuit, Albertine J. ; Sardinha, Luis B. ; Silva, Analiza M. ; Sjödin, Anders M. ; Stice, Eric ; Urlacher, Samuel S. ; Valenti, Giulio ; Van Etten, Ludo M. ; Van Mil, Edgar A. ; Wells, Jonathan C K ; Wilson, George ; Wood, Brian M. ; Yanovski, Jack A. ; Murphy-Alford, Alexia J. ; Loechl, Cornelia U. ; Luke, Amy H. ; Rood, Jennifer ; Westerterp, Klaas R. ; Wong, William W. ; Miyachi, Motohiko ; Schoeller, Dale A. ; Speakman, John R.

2022

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7
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
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Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia

Vakkilainen, Svetlana ; Ahonen, Kira ; Mäkitie, Outi

Journal of clinical immunology, 2024-04, Vol.44 (5), p.115-115 [Periódico revisado por pares]

New York: Springer US

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8
Special populations: care of the critically ill and injured during pandemics and disasters: CHEST consensus statement
Special populations: care of the critically ill and injured during pandemics and disasters: CHEST consensus statement
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Special populations: care of the critically ill and injured during pandemics and disasters: CHEST consensus statement

Dries, David ; Reed, Mary Jane ; Kissoon, Niranjan ; Christian, Michael D ; Dichter, Jeffrey R ; Devereaux, Asha V ; Upperman, Jeffrey S

Chest, 2014-10, Vol.146 (4 Suppl), p.e75S-86S [Periódico revisado por pares]

United States

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9
Health-Related Quality of Life and Functional Status Are Associated with Cardiac Status and Clinical Outcome in Children with Cardiomyopathy
Health-Related Quality of Life and Functional Status Are Associated with Cardiac Status and Clinical Outcome in Children with Cardiomyopathy
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Health-Related Quality of Life and Functional Status Are Associated with Cardiac Status and Clinical Outcome in Children with Cardiomyopathy

Sleeper, Lynn A., ScD ; Towbin, Jeffrey A., MD ; Colan, Steven D., MD ; Hsu, Daphne, MD ; Orav, Endel J., PhD ; Lemler, Matthew S., MD ; Clunie, Sarah, RN ; Messere, Jane, RN ; Fountain, Darlene, RN ; Miller, Tracie L., MD, SM ; Wilkinson, James D., MD, MPH ; Lipshultz, Steven E., MD

The Journal of pediatrics, 2016-03, Vol.170, p.173-180.e4 [Periódico revisado por pares]

United States: Elsevier Inc

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MIB-1 staining index of pediatric meningiomas
MIB-1 staining index of pediatric meningiomas
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MIB-1 staining index of pediatric meningiomas

SANDBERG, David I ; EDGAR, Mark A ; SUTTON, Leslie N ; RESCH, Lothar ; RUTKA, James T ; BECKER, Lawrence E ; SOUWEIDANE, Mark M ; CHAPMAN, Paul H ; LOUIS, David N ; GILLES, Floyd H ; KEPES, John J

Neurosurgery, 2001-03, Vol.48 (3), p.590-597 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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