Literature DB >> 27799343

Genetic panels in young patients with bone marrow failure: are they clinically relevant?

Amy E DeZern1, Robert A Brodsky2.   

Abstract

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Year:  2016        PMID: 27799343      PMCID: PMC5394880          DOI: 10.3324/haematol.2016.152389

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


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  15 in total

1.  Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Authors:  S Goobie; M Popovic; J Morrison; L Ellis; H Ginzberg; G R Boocock; N Ehtesham; C Bétard; C G Brewer; N M Roslin; T J Hudson; K Morgan; T M Fujiwara; P R Durie; J M Rommens
Journal:  Am J Hum Genet       Date:  2001-03-15       Impact factor: 11.025

2.  Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

Authors:  Siobán B Keel; Angela Scott; Marilyn Sanchez-Bonilla; Phoenix A Ho; Suleyman Gulsuner; Colin C Pritchard; Janis L Abkowitz; Mary-Claire King; Tom Walsh; Akiko Shimamura
Journal:  Haematologica       Date:  2016-07-14       Impact factor: 9.941

3.  Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

Authors:  W J Song; M G Sullivan; R D Legare; S Hutchings; X Tan; D Kufrin; J Ratajczak; I C Resende; C Haworth; R Hock; M Loh; C Felix; D C Roy; L Busque; D Kurnit; C Willman; A M Gewirtz; N A Speck; J H Bushweller; F P Li; K Gardiner; M Poncz; J M Maris; D G Gilliland
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

4.  Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

Authors:  E Tsangaris; R Klaassen; C V Fernandez; R Yanofsky; E Shereck; J Champagne; M Silva; J H Lipton; J Brossard; B Michon; S Abish; M Steele; K Ali; N Dower; U Athale; L Jardine; J P Hand; I Odame; P Canning; C Allen; M Carcao; J Beyene; C M Roifman; Y Dror
Journal:  J Med Genet       Date:  2011-06-09       Impact factor: 6.318

5.  Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Authors:  Michael Y Zhang; Siobán B Keel; Tom Walsh; Ming K Lee; Suleyman Gulsuner; Amanda C Watts; Colin C Pritchard; Stephen J Salipante; Michael R Jeng; Inga Hofmann; David A Williams; Mark D Fleming; Janis L Abkowitz; Mary-Claire King; Akiko Shimamura
Journal:  Haematologica       Date:  2014-09-19       Impact factor: 9.941

6.  Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

Authors:  Anna Savoia; Carlo Dufour; Franco Locatelli; Patrizia Noris; Chiara Ambaglio; Vittorio Rosti; Marco Zecca; Simona Ferrari; Filomena di Bari; Anna Corcione; Mariateresa Di Stazio; Marco Seri; Carlo L Balduini
Journal:  Haematologica       Date:  2007-08-01       Impact factor: 9.941

7.  GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

Authors:  Amy P Hsu; Kirby D Johnson; E Liana Falcone; Rajendran Sanalkumar; Lauren Sanchez; Dennis D Hickstein; Jennifer Cuellar-Rodriguez; Jacob E Lemieux; Christa S Zerbe; Emery H Bresnick; Steven M Holland
Journal:  Blood       Date:  2013-03-15       Impact factor: 22.113

8.  The p53 gene in pediatric therapy-related leukemia and myelodysplasia.

Authors:  C A Felix; M R Hosler; D Provisor; K Salhany; E A Sexsmith; D J Slater; N K Cheung; N J Winick; E A Strauss; R Heyn; B J Lange; D Malkin
Journal:  Blood       Date:  1996-05-15       Impact factor: 22.113

9.  AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations.

Authors:  Jih-Luh Tang; Hsin-An Hou; Chien-Yuan Chen; Chieh-Yu Liu; Wen-Chien Chou; Mei-Hsuan Tseng; Chi-Fei Huang; Fen-Yu Lee; Ming-Chih Liu; Ming Yao; Shang-Yi Huang; Bor-Sheng Ko; Szu-Chun Hsu; Shang-Ju Wu; Woei Tsay; Yao-Chang Chen; Liang-In Lin; Hwei-Fang Tien
Journal:  Blood       Date:  2009-10-06       Impact factor: 22.113

Review 10.  The Fanconi anaemia/BRCA pathway.

Authors:  Alan D D'Andrea; Markus Grompe
Journal:  Nat Rev Cancer       Date:  2003-01       Impact factor: 60.716

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