Literature DB >> 19679353

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

Saskia van der Crabben, Ellen van Binsbergen, Margreet Ausems, Martin Poot, Marc Bierings, Arjan Buijs.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19679353     DOI： 10.1016/j.leukres.2009.06.030

Source DB:  PubMed          Journal:  Leuk Res        ISSN： 0145-2126            Impact factor:   3.156


× No keyword cloud information.
  10 in total

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

Authors:  Tim Ripperger; Marcel Tauscher; Detlef Haase; Frank Griesinger; Brigitte Schlegelberger; Doris Steinemann
Journal:  Haematologica       Date:  2011-08-31       Impact factor: 9.941

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

3.  Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype.

Authors:  A Sorrell; C Espenschied; W Wang; J Weitzel; S Chu; P Parker; S Saldivar; R Bhatia
Journal:  Int J Clin Med       Date:  2012-12-01

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.  Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes.

Authors:  Cristina Marletta; Roberto Valli; Barbara Pressato; Lydia Mare; Giuseppe Montalbano; Giuseppe Menna; Giuseppe Loffredo; Maria Ester Bernardo; Luciana Vinti; Simona Ferrari; Alessandra Di Cesare-Merlone; Marco Zecca; Francesco Lo Curto; Franco Locatelli; Francesco Pasquali; Emanuela Maserati
Journal:  Mol Cytogenet       Date:  2012-10-01       Impact factor: 2.009

6.  Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Authors:  Cathrine Jespersgaard; Ida N Damgaard; Nanna Cornelius; Iben Bache; Niels Knabe; Maria J Miranda; Zeynep Tümer
Journal:  Mol Cytogenet       Date:  2016-02-04       Impact factor: 2.009

7.  Germline RUNX1 Intragenic Deletion: Implications for Accurate Diagnosis of FPD/AML.

Authors:  Nicolas Duployez; Jean-Edouard Martin; Sabine Khalife-Hachem; Ryane Benkhelil; Véronique Saada; Christophe Marzac; Nathalie Auger; Alice Marceau-Renaut; Rémi Favier; Paola Ballerini; Olivier Caron; André Baruchel; Stéphane de Botton; Claude Preudhomme; Jean-Baptiste Micol; Hana Raslova; Iléana Antony-Debré
Journal:  Hemasphere       Date:  2019-06-04

8.  RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Authors:  Anna L Brown; Peer Arts; Catherine L Carmichael; Milena Babic; Julia Dobbins; Chan-Eng Chong; Andreas W Schreiber; Jinghua Feng; Kerry Phillips; Paul P S Wang; Thuong Ha; Claire C Homan; Sarah L King-Smith; Lesley Rawlings; Cassandra Vakulin; Andrew Dubowsky; Jessica Burdett; Sarah Moore; Grace McKavanagh; Denae Henry; Amanda Wells; Belinda Mercorella; Mario Nicola; Jeffrey Suttle; Ella Wilkins; Xiao-Chun Li; Joelle Michaud; Peter Brautigan; Ping Cannon; Meryl Altree; Louise Jaensch; Miriam Fine; Carolyn Butcher; Richard J D'Andrea; Ian D Lewis; Devendra K Hiwase; Elli Papaemmanuil; Marshall S Horwitz; Georges Natsoulis; Hugh Y Rienhoff; Nigel Patton; Sally Mapp; Rachel Susman; Susan Morgan; Julian Cooney; Mark Currie; Uday Popat; Tilmann Bochtler; Shai Izraeli; Kenneth Bradstock; Lucy A Godley; Alwin Krämer; Stefan Fröhling; Andrew H Wei; Cecily Forsyth; Helen Mar Fan; Nicola K Poplawski; Christopher N Hahn; Hamish S Scott
Journal:  Blood Adv       Date:  2020-03-24

Review 9.  Emerging roles for intersectin (ITSN) in regulating signaling and disease pathways.

Authors:  Michael P Hunter; Angela Russo; John P O'Bryan
Journal:  Int J Mol Sci       Date:  2013-04-10       Impact factor: 5.923

10.  Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

Authors:  Veronique Latger-Cannard; Christophe Philippe; Alexandre Bouquet; Veronique Baccini; Marie-Christine Alessi; Annick Ankri; Anne Bauters; Sophie Bayart; Pascale Cornillet-Lefebvre; Sylvie Daliphard; Marie-Joelle Mozziconacci; Aline Renneville; Paola Ballerini; Guy Leverger; Hagay Sobol; Philippe Jonveaux; Claude Preudhomme; Paquita Nurden; Thomas Lecompte; Remi Favier
Journal:  Orphanet J Rare Dis       Date:  2016-04-26       Impact factor: 4.123
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.