PMC Links for Books (Select 1474732) - PMC

J Donadieu, G Michel, E Merlin, P Bordigoni, B Monteux, B Beaupain, G Leverger, J P Laporte, O Hermine, A Buzyn, Y Bertrand, J L Casanova, T Leblanc, E Gluckman, A Fischer, J L Stephan

Bone Marrow Transplant. 2005; 36(9): 787–792. Published online 2005 Sep 5. doi: 10.1038/sj.bmt.1705141

PMCID:: PMC7091863

Abstract Article PDF–137K

Select item 65367004.

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

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

Blood. 2018 Sep 20; 132(12): 1318–1331. Prepublished online 2018 Jun 18. doi: 10.1182/blood-2017-12-820308

PMCID:: PMC6536700

Abstract Article

Select item 56933395.

Clinical and Molecular Pathophysiology of Shwachman–Diamond Syndrome: An Update

Kasiani C. Myers, Stella M. Davies, Akiko Shimamura

Hematol Oncol Clin North Am. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Hematol Oncol Clin North Am. 2013 Feb; 27(1): 117–ix. Published online 2012 Nov 3. doi: 10.1016/j.hoc.2012.10.003

PMCID:: PMC5693339

Abstract Article PDF–79K

Select item 56933316.

Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome

Kasiani C. Myers, Susan R. Rose, Meilan M. Rutter, Parinda A. Mehta, Jane C. Khoury, Theresa Cole, Richard E. Harris

J Pediatr. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: J Pediatr. 2013 Jun; 162(6): 1235–1240.e1. Published online 2013 Jan 8. doi: 10.1016/j.jpeds.2012.11.062

PMCID:: PMC5693331

Abstract Article PDF–435K

Select item 56633647.

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

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

J Clin Invest. 2017 Nov 1; 127(11): 4090–4103. Published online 2017 Oct 3. doi: 10.1172/JCI92876

PMCID:: PMC5663364

Abstract Article PDF–10M

Select item 55706508.

Bone Mineral Density in Patients with Inherited Bone Marrow Failure Syndromes

Roopa Kanakatti Shankar, Neelam Giri, Maya B. Lodish, Ninet Sinaii, James C. Reynolds, Sharon A. Savage, Constantine A. Stratakis, Blanche P. Alter

Pediatr Res. Author manuscript; available in PMC 2017 Nov 30.

Published in final edited form as: Pediatr Res. 2017 Sep; 82(3): 458–464. Published online 2017 May 31. doi: 10.1038/pr.2017.117

PMCID:: PMC5570650

Abstract Article PDF–782K

Select item 47319259.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 454475310.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 407732711.

Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update From the North-American Shwachman-Diamond Syndrome Registry

Kasiani C. Myers, Audrey Anna Bolyard, Barbara Otto, Trisha E. Wong, Amanda Jones, Richard E. Harris, Stella M. Davies, David C. Dale, Akiko Shimamura

J Pediatr. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: J Pediatr. 2014 Apr; 164(4): 866–870. Published online 2013 Dec 31. doi: 10.1016/j.jpeds.2013.11.039

PMCID:: PMC4077327

Abstract Article PDF–112K

Select item 405782012.

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

Claudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, Nicholas J Neill, David R Murdock, Matthew Bainbridge, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Wan Ip, Robert Paul Guillerman, James R Lupski, Alison A Bertuch

BMC Med Genet. 2014; 15: 64. Published online 2014 Jun 4. doi: 10.1186/1471-2350-15-64

PMCID:: PMC4057820

Abstract Article PDF–2.4M

Select item 359445113.

Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia

Anna M. Aalbers, Rodrigo T. Calado, Neal S. Young, C. Michel Zwaan, Sachiko Kajigaya, Andre Baruchel, Karin Geleijns, Valerie de Haas, Gertjan J.L. Kaspers, Dirk Reinhardt, Jan Trka, Taco W. Kuijpers, Rob Pieters, Vincent H.J. van der Velden, Marry M. van den Heuvel-Eibrink

Br J Haematol. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Br J Haematol. 2013 Feb; 160(4): 559–561. Published online 2012 Nov 28. doi: 10.1111/bjh.12134

PMCID:: PMC3594451

Article PDF–136K

Select item 343623114.

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Sandrine Beaufils, Florence Bellanger, Nizar Mahlaoui, Anne Lambilliotte, Nathalie Aladjidi, Yves Bertrand, Valérie Mialou, Christine Perot, Gérard Michel, Fanny Fouyssac, Catherine Paillard, Virginie Gandemer, Patrick Boutard, Jacques Schmitz, Alain Morali, Thierry Leblanc, Christine Bellanné-Chantelot, the associated investigators of the French Severe Chronic Neutropenia Registry*

Haematologica. 2012 Sep; 97(9): 1312–1319. doi: 10.3324/haematol.2011.057489

PMCID:: PMC3436231

Abstract Article PDF–1.1M

Select item 312598315.

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study

Blanche P. Alter, Neelam Giri, Sharon A. Savage, June A. Peters, Jennifer T. Loud, Lisa Leathwood, Ann G. Carr, Mark H. Greene, Philip S. Rosenberg

Br J Haematol. Author manuscript; available in PMC 2011 Jun 29.

Published in final edited form as: Br J Haematol. 2010 Jul; 150(2): 179–188. Published online 2010 Apr 30. doi: 10.1111/j.1365-2141.2010.08212.x

PMCID:: PMC3125983

Abstract Article PDF–1.5M

Select item 308402616.

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

Andrew J. Finch, Christine Hilcenko, Nicolas Basse, Lesley F. Drynan, Beatriz Goyenechea, Tobias F. Menne, África González Fernández, Paul Simpson, Clive S. D'Santos, Mark J. Arends, Jean Donadieu, Christine Bellanné-Chantelot, Michael Costanzo, Charles Boone, Andrew N. McKenzie, Stefan M.V. Freund, Alan J. Warren

Genes Dev. 2011 May 1; 25(9): 917–929. doi: 10.1101/gad.623011

PMCID:: PMC3084026

Abstract Article PDF–1.4M

Select item 291307817.

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

Hannah Tamary, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. Rosenberg, Blanche P. Alter

Haematologica. 2010 Aug; 95(8): 1300–1307. Published online 2010 Apr 30. doi: 10.3324/haematol.2009.018119

PMCID:: PMC2913078

Abstract Article PDF–619K

Select item 274240218.

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses

Heather L. Ball, Bing Zhang, J. Jacob Riches, Rikesh Gandhi, Jing Li, Johanna M. Rommens, Jeremy S. Myers

Hum Mol Genet. 2009 Oct 1; 18(19): 3684–3695. Published online 2009 Jul 14. doi: 10.1093/hmg/ddp316

PMCID:: PMC2742402

Abstract Article PDF–366K

Select item 259803419.

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

Gen Nishimura, Eiji Nakashima, Yuichiro Hirose, Trevor Cole, Phillip Cox, Daniel H Cohn, David L Rimoin, Ralph S Lachman, Yoshinari Miyamoto, Bronwyn Kerr, Sheila Unger, Hirofumi Ohashi, Andrea Superti‐Furga, Shiro Ikegawa

J Med Genet. 2007 Apr; 44(4): e73. doi: 10.1136/jmg.2006.043869

PMCID:: PMC2598034

Abstract Article PDF–704K

Select item 197583520.

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

Karthik A. Ganapathi, Karyn M. Austin, Chung-Sheng Lee, Anusha Dias, Maggie M. Malsch, Robin Reed, Akiko Shimamura

Blood. 2007 Sep 1; 110(5): 1458–1465. Prepublished online 2007 May 2. doi: 10.1182/blood-2007-02-075184

PMCID:: PMC1975835

Abstract Article

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