Literature DB >> 21880633

Managing individuals with propensity to myeloid malignancies due to germline RUNX1 deficiency.

Tim Ripperger, Marcel Tauscher, Detlef Haase, Frank Griesinger, Brigitte Schlegelberger, Doris Steinemann.   

Abstract

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Year:  2011        PMID： 21880633      PMCID： PMC3232279          DOI： 10.3324/haematol.2011.053710

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


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  8 in total

1.  A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?

Authors:  T Ripperger; D Steinemann; G Göhring; J Finke; C M Niemeyer; B Strahm; B Schlegelberger
Journal:  Leukemia       Date:  2009-04-23       Impact factor: 11.528

2.  Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation.

Authors:  Saskia van der Crabben; Ellen van Binsbergen; Margreet Ausems; Martin Poot; Marc Bierings; Arjan Buijs
Journal:  Leuk Res       Date:  2009-08-12       Impact factor: 3.156

3.  Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

Authors:  Eleni Katzaki; Gilles Morin; Marzia Pollazzon; Filomena Tiziana Papa; Sabrina Buoni; Joussef Hayek; Joris Andrieux; Laure Lecerf; Cornel Popovici; Aline Receveur; Michèle Mathieu-Dramard; Alessandra Renieri; Francesca Mari; Nicole Philip
Journal:  Am J Med Genet A       Date:  2010-07       Impact factor: 2.802

Review 4.  Familial myelodysplastic syndromes: a review of the literature.

Authors:  Elena Liew; Carolyn Owen
Journal:  Haematologica       Date:  2011-05-23       Impact factor: 9.941

5.  Clinical effect of point mutations in myelodysplastic syndromes.

Authors:  Rafael Bejar; Kristen Stevenson; Omar Abdel-Wahab; Naomi Galili; Björn Nilsson; Guillermo Garcia-Manero; Hagop Kantarjian; Azra Raza; Ross L Levine; Donna Neuberg; Benjamin L Ebert
Journal:  N Engl J Med       Date:  2011-06-30       Impact factor: 91.245

6.  High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

Authors:  Claude Preudhomme; Aline Renneville; Violaine Bourdon; Nathalie Philippe; Catherine Roche-Lestienne; Nicolas Boissel; Nathalie Dhedin; Jean-Marie André; Pascale Cornillet-Lefebvre; André Baruchel; Marie-Joelle Mozziconacci; Hagay Sobol
Journal:  Blood       Date:  2009-04-08       Impact factor: 22.113

7.  Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

Authors:  Marwan Shinawi; Ayelet Erez; Deborah L Shardy; Brendan Lee; Rizwan Naeem; George Weissenberger; A Craig Chinault; Sau Wai Cheung; Sharon E Plon
Journal:  Blood       Date:  2008-05-16       Impact factor: 22.113

8.  Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy.

Authors:  Carolyn J Owen; Cynthia L Toze; Anna Koochin; Donna L Forrest; Clayton A Smith; Jane M Stevens; Shannon C Jackson; Man-Chiu Poon; Gary D Sinclair; Brian Leber; Peter R E Johnson; Anthony Macheta; John A L Yin; Michael J Barnett; T Andrew Lister; Jude Fitzgibbon
Journal:  Blood       Date:  2008-08-21       Impact factor: 22.113
  8 in total
  3 in total

1.  Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies.

Authors:  Tim Ripperger; Kiran Tawana; Christian Kratz; Brigitte Schlegelberger; Jude Fitzgibbon; Doris Steinemann
Journal:  Eur J Hum Genet       Date:  2016-01-27       Impact factor: 4.246

2.  Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.

Authors:  Panagiotis Baliakas; Bianca Tesi; Ulla Wartiovaara-Kautto; Asbjørg Stray-Pedersen; Lone Smidstrup Friis; Ingunn Dybedal; Randi Hovland; Kirsi Jahnukainen; Klas Raaschou-Jensen; Per Ljungman; Cecilie F Rustad; Charlotte K Lautrup; Outi Kilpivaara; Astrid Olsnes Kittang; Kirsten Grønbæk; Jörg Cammenga; Eva Hellström-Lindberg; Mette K Andersen
Journal:  Hemasphere       Date:  2019-11-04

Review 3.  Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies.

Authors:  Brigitte Schlegelberger; Cristina Mecucci; Marcin Wlodarski
Journal:  Fam Cancer       Date:  2021-05-31       Impact factor: 2.375
  3 in total

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