Literature DB >> 22934832

Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

Shefali Parikh, Nieves Perdigones, Michelle Paessler, Barbara Greenbaum, Laura S Tooke, Jaclyn A Biegel, Philip J Mason, Monica Bessler.   

Abstract

Entities:  

Mesh：

Year:  2012        PMID： 22934832      PMCID： PMC3484241          DOI： 10.1111/bjh.12032

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


× No keyword cloud information.
  10 in total

1.  A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase.

Authors:  F Sanger; A R Coulson
Journal:  J Mol Biol       Date:  1975-05-25       Impact factor: 5.469

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.  Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis.

Authors:  Barbara Pressato; Roberto Valli; Cristina Marletta; Lydia Mare; Giuseppe Montalbano; Francesco Lo Curto; Francesco Pasquali; Emanuela Maserati
Journal:  Br J Haematol       Date:  2012-02-01       Impact factor: 6.998

4.  Mutations to the rescue.

Authors:  Mike May
Journal:  Nat Med       Date:  2011-04       Impact factor: 53.440

Review 5.  Shwachman-Diamond syndrome.

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

6.  The Shwachman-Diamond SBDS protein localizes to the nucleolus.

Authors:  Karyn M Austin; Rebecca J Leary; Akiko Shimamura
Journal:  Blood       Date:  2005-04-28       Impact factor: 22.113

7.  The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.

Authors:  A Minelli; E Maserati; E Nicolis; M Zecca; L Sainati; D Longoni; F Lo Curto; G Menna; F Poli; E De Paoli; M Cipolli; F Locatelli; F Pasquali; C Danesino
Journal:  Leukemia       Date:  2009-01-15       Impact factor: 11.528

8.  Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.

Authors:  Yigal Dror; Peter Durie; Hedy Ginzberg; Rebecca Herman; Anu Banerjee; Martin Champagne; Kevin Shannon; David Malkin; Melvin H Freedman
Journal:  Exp Hematol       Date:  2002-07       Impact factor: 3.084

9.  Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond syndrome.

Authors:  Arabella Smith; Peter J Shaw; Boyd Webster; Ahti Lammi; Kevin Gaskin; Sara Diaz; Praveen Sharma
Journal:  Pediatr Hematol Oncol       Date:  2002 Oct-Nov       Impact factor: 1.969

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

Authors:  Andrew J Finch; Christine Hilcenko; Nicolas Basse; Lesley F Drynan; Beatriz Goyenechea; Tobias F Menne; Africa 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
Journal:  Genes Dev       Date:  2011-05-01       Impact factor: 11.361
  10 in total
  4 in total

1.  Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.

Authors:  Daria V Babushok; Monica Bessler; Timothy S Olson
Journal:  Leuk Lymphoma       Date:  2015-12-23

2.  Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.

Authors:  Daria V Babushok; Hongbo M Xie; Jacquelyn J Roth; Nieves Perdigones; Timothy S Olson; Joshua D Cockroft; Xiaowu Gai; Juan C Perin; Yimei Li; Michele E Paessler; Hakon Hakonarson; Gregory M Podsakoff; Philip J Mason; Jaclyn A Biegel; Monica Bessler
Journal:  Br J Haematol       Date:  2013-10-14       Impact factor: 6.998

Review 3.  Recent advances in understanding clonal haematopoiesis in aplastic anaemia.

Authors:  Natasha Stanley; Timothy S Olson; Daria V Babushok
Journal:  Br J Haematol       Date:  2017-01-20       Impact factor: 6.998

4.  Clonal hematopoiesis in patients with dyskeratosis congenita.

Authors:  Nieves Perdigones; Juan C Perin; Irene Schiano; Peter Nicholas; Jaclyn A Biegel; Philip J Mason; Daria V Babushok; Monica Bessler
Journal:  Am J Hematol       Date:  2016-10-21       Impact factor: 10.047
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.