Literature DB >> 29519864

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Amanda Walne1, Hemanth Tummala2, Alicia Ellison2, Shirleny Cardoso2, Jasmin Sidhu2, Gabriela Sciuccati3, Tom Vulliamy2, Inderjeet Dokal2.   

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Year:  2018        PMID： 29519864      PMCID： PMC6029530          DOI： 10.3324/haematol.2017.183855

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


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  13 in total

1.  Late onset bone marrow failure associated with proximal fusion of radius and ulna: a new syndrome.

Authors:  I Dokal; P Ganly; I Riebero; J Marsh; A Steed; J Kendra; C Drysdale; J Hows
Journal:  Br J Haematol       Date:  1989-02       Impact factor: 6.998

2.  A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.

Authors:  Steven V Lord; Joaquin E Jimenez; Zachary A Kroeger; Cory S Patrick; Isalis Sanchez-Pena; Edward Ziga; Guney Bademci; Mustafa Tekin
Journal:  Clin Dysmorphol       Date:  2018-01       Impact factor: 0.816

3.  The distal zinc finger domain of AML1/MDS1/EVI1 is an oligomerization domain involved in induction of hematopoietic differentiation defects in primary cells in vitro.

Authors:  Vitalyi Senyuk; Donglan Li; Alexander Zakharov; Fady M Mikhail; Giuseppina Nucifora
Journal:  Cancer Res       Date:  2005-09-01       Impact factor: 12.701

4.  Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation.

Authors:  Paul Castillo-Caro; Santhosh Dhanraj; Paul Haut; Kent Robertson; Yigal Dror; Anjali A Sharathkumar
Journal:  J Pediatr Hematol Oncol       Date:  2010-08       Impact factor: 1.289

5.  MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.

Authors:  Tim Ripperger; Winfried Hofmann; Jan C Koch; Katayoon Shirneshan; Detlef Haase; Gerald Wulf; Peter R Issing; Matthias Karnebogen; Gunnar Schmidt; Bernd Auber; Brigitte Schlegelberger; Thomas Illig; Birgit Zirn; Doris Steinemann
Journal:  Haematologica       Date:  2017-11-02       Impact factor: 9.941

6.  Autosomal dominant and sporadic radio-ulnar synostosis.

Authors:  R Rizzo; V Pavone; G Corsello; G Sorge; G Neri; J M Opitz
Journal:  Am J Med Genet       Date:  1997-01-20

7.  A neonate with severe thrombocytopenia and radio-ulnar synostosis.

Authors:  Martha C Sola; William B Slayton; Lisa M Rimsza; Jose A Perez; Deborah Fuchs; Deborah Fuch; Darlene A Calhoun; Robert D Christensen
Journal:  J Perinatol       Date:  2004-08       Impact factor: 2.521

8.  Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.

Authors:  Tetsuya Niihori; Meri Ouchi-Uchiyama; Yoji Sasahara; Takashi Kaneko; Yoshiko Hashii; Masahiro Irie; Atsushi Sato; Yuka Saito-Nanjo; Ryo Funayama; Takeshi Nagashima; Shin-Ichi Inoue; Keiko Nakayama; Keiichi Ozono; Shigeo Kure; Yoichi Matsubara; Masue Imaizumi; Yoko Aoki
Journal:  Am J Hum Genet       Date:  2015-11-12       Impact factor: 11.025

9.  Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.

Authors:  Arjan Bouman; Lia Knegt; Stefan Gröschel; Claudia Erpelinck; Mathijs Sanders; Ruud Delwel; Taco Kuijpers; Jan Maarten Cobben
Journal:  Am J Med Genet A       Date:  2015-11-10       Impact factor: 2.802

10.  Patterns of Evi-1 expression in embryonic and adult tissues suggest that Evi-1 plays an important regulatory role in mouse development.

Authors:  A S Perkins; J A Mercer; N A Jenkins; N G Copeland
Journal:  Development       Date:  1991-02       Impact factor: 6.868
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