Literature DB >> 25729736

Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.

Won Kyoung Cho1, In Ah Jung1, Jiyeon Kim2, Hyojin Chae2, Myungshin Kim2, Nack-Gyun Chung1, Byung-Kyu Suh1.   

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Year:  2015        PMID： 25729736      PMCID： PMC4330184          DOI： 10.3343/alm.2015.35.2.269

Source DB:  PubMed          Journal:  Ann Lab Med        ISSN： 2234-3806            Impact factor:   3.464


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  9 in total

1.  Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

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.  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

4.  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

5.  Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.

Authors:  S K Hashmi; C Allen; R Klaassen; C V Fernandez; R Yanofsky; E Shereck; J Champagne; M Silva; J H Lipton; J Brossard; Y Samson; S Abish; M Steele; K Ali; N Dower; U Athale; L Jardine; J P Hand; J Beyene; Y Dror
Journal:  Clin Genet       Date:  2011-05       Impact factor: 4.438

6.  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

7.  Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.

Authors:  Sanna Toiviainen-Salo; Mervi K Mäyränpää; Peter R Durie; Nicole Richards; Marc Grynpas; Lynda Ellis; Shiro Ikegawa; William G Cole; Johanna Rommens; Eino Marttinen; Erkki Savilahti; Outi Mäkitie
Journal:  Bone       Date:  2007-09-05       Impact factor: 4.398

8.  A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child.

Authors:  Jeong Hee Lee; Sun Hwan Bae; Jeong Jin Yu; Ran Lee; Yeo Min Yun; Eun Young Song
Journal:  J Korean Med Sci       Date:  2008-02       Impact factor: 2.153

9.  Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report.

Authors:  So Young Park; Min Byoung Chae; Yee Gyung Kwack; Moon Hee Lee; Inho Kim; Young Soo Kim; Chul Soo Kim
Journal:  Korean J Intern Med       Date:  2002-09       Impact factor: 2.884
  9 in total
  1 in total

1.  Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia.

Authors:  Shin Yeu Ong; Shao-Tzu Li; Gee Chuan Wong; Aloysius Yew Leng Ho; Chandramouli Nagarajan; Joanne Ngeow
Journal:  Leuk Res Rep       Date:  2018-04-09
  1 in total

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