Literature DB >> 19951977

Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?

Axel Karow, Christian Flotho, Michaela Schneider, Manfred Fliegauf, Charlotte M Niemeyer.   

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Year:  2009        PMID： 19951977      PMCID： PMC2857206          DOI： 10.3324/haematol.2009.015008

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  9 in total

1.  Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

Authors:  Eiji Nakashima; Akihiko Mabuchi; Yoshio Makita; Mitsuo Masuno; Hirofumi Ohashi; Gen Nishimura; Shiro Ikegawa
Journal:  Hum Genet       Date:  2004-01-29       Impact factor: 4.132

2.  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

3.  Identification of novel mutations in patients with Shwachman-Diamond syndrome.

Authors:  Elena Nicolis; Alberto Bonizzato; Baroukh M Assael; Marco Cipolli
Journal:  Hum Mutat       Date:  2005-04       Impact factor: 4.878

Review 4.  Shwachman-Diamond syndrome.

Authors:  Akiko Shimamura
Journal:  Semin Hematol       Date:  2006-07       Impact factor: 3.851

5.  TERC mutations in children with refractory cytopenia.

Authors:  Christina A Ortmann; Charlotte M Niemeyer; Angela Wawer; Wolfram Ebell; Irith Baumann; Christian P Kratz
Journal:  Haematologica       Date:  2006-05       Impact factor: 9.941

6.  Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.

Authors:  Takako Kawakami; Tetsuo Mitsui; Masayo Kanai; Emi Shirahata; Dai Sendo; Miyako Kanno; Mizuka Noro; Mikiya Endoh; Asahito Hama; Chikako Tono; Etsuro Ito; Shigeru Tsuchiya; Yutaka Igarashi; Daiki Abukawa; Kiyoshi Hayasaka
Journal:  Tohoku J Exp Med       Date:  2005-07       Impact factor: 1.848

7.  Mutations in the SBDS gene in acquired aplastic anemia.

Authors:  Rodrigo T Calado; Solomon A Graf; Keisha L Wilkerson; Sachiko Kajigaya; Philip J Ancliff; Yigal Dror; Stephen J Chanock; Peter M Lansdorp; Neal S Young
Journal:  Blood       Date:  2007-05-03       Impact factor: 22.113

8.  Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

Authors:  Jill R Woloszynek; Robert J Rothbaum; Amy S Rawls; Patrick J Minx; Richard K Wilson; Philip J Mason; Monica Bessler; Daniel C Link
Journal:  Blood       Date:  2004-07-29       Impact factor: 22.113

9.  Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome.

Authors:  D Bhatla; S M Davies; S Shenoy; R E Harris; M Crockett; L Shoultz; T Smolarek; J Bleesing; M Hansen; S Jodele; M Jordan; A H Filipovich; P A Mehta
Journal:  Bone Marrow Transplant       Date:  2008-05-26       Impact factor: 5.483
  9 in total
  1 in total

1.  Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure.

Authors:  Stefanie Kreutmair; Miriam Erlacher; Geoffroy Andrieux; Rouzanna Istvanffy; Alina Mueller-Rudorf; Melissa Zwick; Tamina Rückert; Milena Pantic; Teresa Poggio; Khalid Shoumariyeh; Tony A Mueller; Hiroyuki Kawaguchi; Marie Follo; Cathrin Klingeberg; Marcin Wlodarski; Irith Baumann; Dietmar Pfeifer; Michal Kulinski; Martina Rudelius; Simone Lemeer; Bernhard Kuster; Christine Dierks; Christian Peschel; Nina Cabezas-Wallscheid; Jesus Duque-Afonso; Robert Zeiser; Michael L Cleary; Detlev Schindler; Annette Schmitt-Graeff; Melanie Boerries; Charlotte M Niemeyer; Robert Aj Oostendorp; Justus Duyster; Anna Lena Illert
Journal:  J Clin Invest       Date:  2020-06-01       Impact factor: 14.808
  1 in total

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