Literature DB >> 29885000

Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.

John M Gansner1, Elissa Furutani2, Dean R Campagna3, Mark D Fleming3, Akiko Shimamura2.   

Abstract

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Year:  2018        PMID： 29885000      PMCID： PMC6168377          DOI： 10.1002/ajh.25155

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  9 in total

1.  Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Authors:  Graeme R B Boocock; Jodi A Morrison; Maja Popovic; Nicole Richards; Lynda Ellis; Peter R Durie; Johanna M Rommens
Journal:  Nat Genet       Date:  2002-12-23       Impact factor: 38.330

2.  Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

Authors:  Yigal Dror; Jean Donadieu; Jutta Koglmeier; John Dodge; Sanna Toiviainen-Salo; Outi Makitie; Elizabeth Kerr; Cornelia Zeidler; Akiko Shimamura; Neil Shah; Marco Cipolli; Taco Kuijpers; Peter Durie; Johanna Rommens; Liesbeth Siderius; Johnson M Liu
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

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

Authors:  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
Journal:  Br J Haematol       Date:  2010-04-30       Impact factor: 6.998

4.  A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

Authors:  Olivier Bluteau; Marie Sebert; Thierry Leblanc; Régis Peffault de Latour; Samuel Quentin; Elodie Lainey; Lucie Hernandez; Jean-Hugues Dalle; Flore Sicre de Fontbrune; Etienne Lengline; Raphael Itzykson; Emmanuelle Clappier; Nicolas Boissel; Nadia Vasquez; Mélanie Da Costa; Julien Masliah-Planchon; Wendy Cuccuini; Anna Raimbault; Louis De Jaegere; Lionel Adès; Pierre Fenaux; Sébastien Maury; Claudine Schmitt; Marc Muller; Carine Domenech; Nicolas Blin; Bénédicte Bruno; Isabelle Pellier; Mathilde Hunault; Stéphane Blanche; Arnaud Petit; Guy Leverger; Gérard Michel; Yves Bertrand; André Baruchel; Gérard Socié; Jean Soulier
Journal:  Blood       Date:  2017-11-16       Impact factor: 22.113

5.  Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

Authors:  Ibrahim Ghemlas; Hongbing Li; Bozana Zlateska; Robert Klaassen; Conrad V Fernandez; Rochelle A Yanofsky; John Wu; Yves Pastore; Mariana Silva; Jeff H Lipton; Josee Brossard; Bruno Michon; Sharon Abish; MacGregor Steele; Roona Sinha; Mark Belletrutti; Vicky R Breakey; Lawrence Jardine; Lisa Goodyear; Lillian Sung; Santhosh Dhanraj; Emma Reble; Amanda Wagner; Joseph Beyene; Peter Ray; Stephen Meyn; Michaela Cada; Yigal Dror
Journal:  J Med Genet       Date:  2015-07-01       Impact factor: 6.318

6.  Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.

Authors:  Lydie Da Costa; Gil Tchernia; Philippe Gascard; Annie Lo; Joerg Meerpohl; Charlotte Niemeyer; Joel-Anne Chasis; Jason Fixler; Narla Mohandas
Journal:  Blood       Date:  2003-02-13       Impact factor: 22.113

Review 7.  Genetic predisposition to hematologic malignancies: management and surveillance.

Authors:  Lucy A Godley; Akiko Shimamura
Journal:  Blood       Date:  2017-06-09       Impact factor: 22.113

8.  Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group.

Authors:  Jean Donadieu; Thierry Leblanc; Brigitte Bader Meunier; Mohamed Barkaoui; Odile Fenneteau; Yves Bertrand; Micheline Maier-Redelsperger; Marguerite Micheau; Jean Louis Stephan; Noel Phillipe; Pierre Bordigoni; Annie Babin-Boilletot; Philippe Bensaid; Anne Marie Manel; Etienne Vilmer; Isabelle Thuret; Stephane Blanche; Eliane Gluckman; Alain Fischer; Françoise Mechinaud; Bertrand Joly; Thierry Lamy; Olivier Hermine; Bruno Cassinat; Christine Bellanné-Chantelot; Christine Chomienne
Journal:  Haematologica       Date:  2005-01       Impact factor: 9.941

9.  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Authors:  N Draptchinskaia; P Gustavsson; B Andersson; M Pettersson; T N Willig; I Dianzani; S Ball; G Tchernia; J Klar; H Matsson; D Tentler; N Mohandas; B Carlsson; N Dahl
Journal:  Nat Genet       Date:  1999-02       Impact factor: 38.330
  9 in total

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