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Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry
Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry
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Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry

Myers, Kasiani C., MD ; Bolyard, Audrey Anna, RN, BS ; Otto, Barbara, MN, MS ; Wong, Trisha E., MD, MS ; Jones, Amanda T ; Harris, Richard E., MD ; Davies, Stella M., MBBS, PhD ; Dale, David C., MD ; Shimamura, Akiko, MD, PhD

The Journal of pediatrics, 2014-04, Vol.164 (4), p.866-870 [Periódico revisado por pares]

United States: Mosby, Inc

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2
The Genetic Landscape of Diamond-Blackfan Anemia
The Genetic Landscape of Diamond-Blackfan Anemia
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The Genetic Landscape of Diamond-Blackfan Anemia

Ulirsch, Jacob C. ; Verboon, Jeffrey M. ; Kazerounian, Shideh ; Guo, Michael H. ; Yuan, Daniel ; Ludwig, Leif S. ; Handsaker, Robert E. ; Abdulhay, Nour J. ; Fiorini, Claudia ; Genovese, Giulio ; Lim, Elaine T. ; Cheng, Aaron ; Cummings, Beryl B. ; Chao, Katherine R. ; Beggs, Alan H. ; Genetti, Casie A. ; Sieff, Colin A. ; Newburger, Peter E. ; Niewiadomska, Edyta ; Matysiak, Michal ; Vlachos, Adrianna ; Lipton, Jeffrey M. ; Atsidaftos, Eva ; Glader, Bertil ; Narla, Anupama ; Gleizes, Pierre-Emmanuel ; O’Donohue, Marie-Françoise ; Montel-Lehry, Nathalie ; Amor, David J. ; McCarroll, Steven A. ; O’Donnell-Luria, Anne H. ; Gupta, Namrata ; Gabriel, Stacey B. ; MacArthur, Daniel G. ; Lander, Eric S. ; Lek, Monkol ; Da Costa, Lydie ; Nathan, David G. ; Korostelev, Andrei A. ; Do, Ron ; Sankaran, Vijay G. ; Gazda, Hanna T.

American journal of human genetics, 2018-12, Vol.103 (6), p.930-947 [Periódico revisado por pares]

United States: Elsevier Inc

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3
L‐leucine improves anemia and growth in patients with transfusion‐dependent Diamond‐Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond‐Blackfan Anemia Registry
L‐leucine improves anemia and growth in patients with transfusion‐dependent Diamond‐Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond‐Blackfan Anemia Registry
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L‐leucine improves anemia and growth in patients with transfusion‐dependent Diamond‐Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond‐Blackfan Anemia Registry

Vlachos, Adrianna ; Atsidaftos, Evangelia ; Lababidi, Mohammad Lutfi ; Muir, Ellen ; Rogers, Zora R. ; Alhushki, Waseem ; Bernstein, Jonathan ; Glader, Bertil ; Gruner, Barbara ; Hartung, Helge ; Knoll, Christine ; Loew, Thomas ; Nalepa, Grzegorz ; Narla, Anupama ; Panigrahi, Arun R. ; Sieff, Colin A. ; Walkovich, Kelly ; Farrar, Jason E. ; Lipton, Jeffrey M.

Pediatric blood & cancer, 2020-12, Vol.67 (12), p.e28748-n/a [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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4
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
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Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

Vlachos, Adrianna ; Rosenberg, Philip S. ; Atsidaftos, Eva ; Alter, Blanche P. ; Lipton, Jeffrey M.

Blood, 2012-04, Vol.119 (16), p.3815-3819 [Periódico revisado por pares]

Washington, DC: Elsevier Inc

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5
Diamond-Blackfan anemia
Diamond-Blackfan anemia
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Diamond-Blackfan anemia

Da Costa, Lydie M ; Marie, Isabelle ; Leblanc, Thierry M

Hematology, 2021-12, Vol.2021 (1), p.353-360

United States: American Society of Hematology

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6
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
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Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Bellanné-Chantelot, Christine ; Schmaltz-Panneau, Barbara ; Marty, Caroline ; Fenneteau, Odile ; Callebaut, Isabelle ; Clauin, Séverine ; Docet, Aurélie ; Damaj, Gandhi-Laurent ; Leblanc, Thierry ; Pellier, Isabelle ; Stoven, Cécile ; Souquere, Sylvie ; Antony-Debré, Iléana ; Beaupain, Blandine ; Aladjidi, Nathalie ; Barlogis, Vincent ; Bauduer, Frédéric ; Bensaid, Philippe ; Boespflug-Tanguy, Odile ; Berger, Claire ; Bertrand, Yves ; Carausu, Liana ; Fieschi, Claire ; Galambrun, Claire ; Schmidt, Aline ; Journel, Hubert ; Mazingue, Françoise ; Nelken, Brigitte ; Quah, Thuan Chong ; Oksenhendler, Eric ; Ouachée, Marie ; Pasquet, Marlène ; Saada, Véronique ; Suarez, Felipe ; Pierron, Gérard ; Vainchenker, William ; Plo, Isabelle ; Donadieu, Jean

Blood, 2018-09, Vol.132 (12), p.1318-1331 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Effect of Continuous Glucose Monitoring on Glycemic Control in Adults With Type 1 Diabetes Using Insulin Injections: The DIAMOND Randomized Clinical Trial
Effect of Continuous Glucose Monitoring on Glycemic Control in Adults With Type 1 Diabetes Using Insulin Injections: The DIAMOND Randomized Clinical Trial
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Effect of Continuous Glucose Monitoring on Glycemic Control in Adults With Type 1 Diabetes Using Insulin Injections: The DIAMOND Randomized Clinical Trial

Beck, Roy W ; Riddlesworth, Tonya ; Ruedy, Katrina ; Ahmann, Andrew ; Bergenstal, Richard ; Haller, Stacie ; Kollman, Craig ; Kruger, Davida ; McGill, Janet B ; Polonsky, William ; Toschi, Elena ; Wolpert, Howard ; Price, David

JAMA : the journal of the American Medical Association, 2017-01, Vol.317 (4), p.371-378 [Periódico revisado por pares]

United States: American Medical Association

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8
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features
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Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

Carapito, Raphael ; Konantz, Martina ; Paillard, Catherine ; Miao, Zhichao ; Pichot, Angélique ; Leduc, Magalie S ; Yang, Yaping ; Bergstrom, Katie L ; Mahoney, Donald H ; Shardy, Deborah L ; Alsaleh, Ghada ; Naegely, Lydie ; Kolmer, Aline ; Paul, Nicodème ; Hanauer, Antoine ; Rolli, Véronique ; Müller, Joëlle S ; Alghisi, Elisa ; Sauteur, Loïc ; Macquin, Cécile ; Morlon, Aurore ; Sancho, Consuelo Sebastia ; Amati-Bonneau, Patrizia ; Procaccio, Vincent ; Mosca-Boidron, Anne-Laure ; Marle, Nathalie ; Osmani, Naël ; Lefebvre, Olivier ; Goetz, Jacky G ; Unal, Sule ; Akarsu, Nurten A ; Radosavljevic, Mirjana ; Chenard, Marie-Pierre ; Rialland, Fanny ; Grain, Audrey ; Béné, Marie-Christine ; Eveillard, Marion ; Vincent, Marie ; Guy, Julien ; Faivre, Laurence ; Thauvin-Robinet, Christel ; Thevenon, Julien ; Myers, Kasiani ; Fleming, Mark D ; Shimamura, Akiko ; Bottollier-Lemallaz, Elodie ; Westhof, Eric ; Lengerke, Claudia ; Isidor, Bertrand ; Bahram, Seiamak

The Journal of clinical investigation, 2017-11, Vol.127 (11), p.4090-4103 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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9
The "Death Diamond": Rapid thrombelastography identifies lethal hyperfibrinolysis
The "Death Diamond": Rapid thrombelastography identifies lethal hyperfibrinolysis
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The "Death Diamond": Rapid thrombelastography identifies lethal hyperfibrinolysis

Chapman, Michael P ; Moore, Ernest E ; Moore, Hunter B ; Gonzalez, Eduardo ; Morton, Alexander P ; Chandler, James ; Fleming, Courtney D ; Ghasabyan, Arsen ; Silliman, Christopher C ; Banerjee, Anirban ; Sauaia, Angela

The journal of trauma and acute care surgery, 2015-12, Vol.79 (6), p.925-929 [Periódico revisado por pares]

United States

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10
A prospective randomised study of “covered” versus “uncovered” diamond stents for the management of distal malignant biliary obstruction
A prospective randomised study of “covered” versus “uncovered” diamond stents for the management of distal malignant biliary obstruction
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A prospective randomised study of “covered” versus “uncovered” diamond stents for the management of distal malignant biliary obstruction

Isayama, H ; Komatsu, Y ; Tsujino, T ; Sasahira, N ; Hirano, K ; Toda, N ; Nakai, Y ; Yamamoto, N ; Tada, M ; Yoshida, H ; Shiratori, Y ; Kawabe, T ; Omata, M

Gut, 2004-05, Vol.53 (5), p.729-734 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and British Society of Gastroenterology

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