Literature DB >> 12183725

Shwachman-Diamond syndrome: report from an international conference.

Robert Rothbaum1, Jean Perrault, Adrianna Vlachos, Marco Cipolli, Blanche P Alter, Susan Burroughs, Peter Durie, M Tarek Elghetany, Richard Grand, Van Hubbard, Johanna Rommens, Thomas Rossi.   

Abstract

Mesh：

Year:  2002        PMID： 12183725     DOI： 10.1067/mpd.2002.125850

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  18 in total

1.  Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test.

Authors:  S M N Brown; R Buchdahl
Journal:  J R Soc Med       Date:  2008-07       Impact factor: 5.344

2.  TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Authors:  Hong-Yan Du; Elena Pumbo; Jennifer Ivanovich; Ping An; Richard T Maziarz; Ulrike M Reiss; Deborah Chirnomas; Akiko Shimamura; Adrianna Vlachos; Jeffrey M Lipton; Rakesh K Goyal; Frederick Goldman; David B Wilson; Philip J Mason; Monica Bessler
Journal:  Blood       Date:  2008-10-17       Impact factor: 22.113

3.  Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

Authors:  Kasiani C Myers; Audrey Anna Bolyard; Barbara Otto; Trisha E Wong; Amanda T Jones; Richard E Harris; Stella M Davies; David C Dale; Akiko Shimamura
Journal:  J Pediatr       Date:  2013-12-31       Impact factor: 4.406

4.  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

5.  Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Authors:  Ekaterini T Tsilou; Neelam Giri; Sarah Weinstein; Christine Mueller; Sharon A Savage; Blanche P Alter
Journal:  Ophthalmology       Date:  2009-12-22       Impact factor: 12.079

6.  Shwachman-Diamond syndrome: diarrhea, no longer required?

Authors:  Jeffrey R Andolina; Colleen B Morrison; Alexis A Thompson; Sonali Chaudhury; A Kyle Mack; Maria Proytcheva; Seth J Corey
Journal:  J Pediatr Hematol Oncol       Date:  2013-08       Impact factor: 1.289

7.  Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.

Authors:  John H Fargo; Christian P Kratz; Neelam Giri; Sharon A Savage; Carolyn Wong; Karen Backer; Blanche P Alter; Bertil Glader
Journal:  Br J Haematol       Date:  2012-12-17       Impact factor: 6.998

Review 8.  The role of telomere biology in bone marrow failure and other disorders.

Authors:  Sharon A Savage; Blanche P Alter
Journal:  Mech Ageing Dev       Date:  2007-11-19       Impact factor: 5.432

9.  Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey.

Authors:  Muge Gokce; Murat Tuncer; Mualla Cetin; Fatma Gumruk
Journal:  Indian J Hematol Blood Transfus       Date:  2012-06-04       Impact factor: 0.900

Review 10.  Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.

Authors:  Lauri Burroughs; Ann Woolfrey; Akiko Shimamura
Journal:  Hematol Oncol Clin North Am       Date:  2009-04       Impact factor: 3.722
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.