Literature DB >> 29217785

Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome.

Yoann Vial1,2,3, Julie Lachenaud4, Alain Verloes1,2,5, Marianne Besnard6, Odile Fenneteau7, Elodie Lainey2,3,7, Alice Marceau-Renaut8,9, Claude Preudhomme8,9, André Baruchel2,4, Hélène Cavé1,2,3, Séverine Drunat10,5.   

Abstract

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Year:  2017        PMID： 29217785      PMCID： PMC6058797          DOI： 10.3324/haematol.2017.178590

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


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  16 in total

Review 1.  Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Authors:  Samantha A Schrier; Ilana Sherer; Matthew A Deardorff; Dinah Clark; Lynn Audette; Lynette Gillis; Antonie D Kline; Linda Ernst; Kathleen Loomes; Ian D Krantz; Laird G Jackson
Journal:  Am J Med Genet A       Date:  2011-11-08       Impact factor: 2.802

2.  High rate of mosaicism in individuals with Cornelia de Lange syndrome.

Authors:  Sylvia A Huisman; Egbert J W Redeker; Saskia M Maas; Marcel M Mannens; Raoul C M Hennekam
Journal:  J Med Genet       Date:  2013-03-15       Impact factor: 6.318

3.  The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.

Authors:  Michele P Lambert; Laird G Jackson; Dinah Clark; Mani Kaur; Ian D Krantz; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2010-12-10       Impact factor: 2.802

4.  Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications.

Authors:  Felicitas Thol; Robin Bollin; Marten Gehlhaar; Carolin Walter; Martin Dugas; Karl Josef Suchanek; Aylin Kirchner; Liu Huang; Anuhar Chaturvedi; Martin Wichmann; Lutz Wiehlmann; Rabia Shahswar; Frederik Damm; Gudrun Göhring; Brigitte Schlegelberger; Richard Schlenk; Konstanze Döhner; Hartmut Döhner; Jürgen Krauter; Arnold Ganser; Michael Heuser
Journal:  Blood       Date:  2013-12-13       Impact factor: 22.113

5.  The landscape of somatic mutations in Down syndrome-related myeloid disorders.

Authors:  Kenichi Yoshida; Tsutomu Toki; Yusuke Okuno; Rika Kanezaki; Yuichi Shiraishi; Aiko Sato-Otsubo; Masashi Sanada; Myoung-ja Park; Kiminori Terui; Hiromichi Suzuki; Ayana Kon; Yasunobu Nagata; Yusuke Sato; RuNan Wang; Norio Shiba; Kenichi Chiba; Hiroko Tanaka; Asahito Hama; Hideki Muramatsu; Daisuke Hasegawa; Kazuhiro Nakamura; Hirokazu Kanegane; Keiko Tsukamoto; Souichi Adachi; Kiyoshi Kawakami; Koji Kato; Ryosei Nishimura; Shai Izraeli; Yasuhide Hayashi; Satoru Miyano; Seiji Kojima; Etsuro Ito; Seishi Ogawa
Journal:  Nat Genet       Date:  2013-09-22       Impact factor: 38.330

6.  Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

Authors:  Sergey I Nikolaev; Federico Santoni; Anne Vannier; Emilie Falconnet; Emanuela Giarin; Giuseppe Basso; Alexander Hoischen; Joris A Veltman; Jurgen Groet; Dean Nizetic; Stylianos E Antonarakis
Journal:  Blood       Date:  2013-06-03       Impact factor: 22.113

Review 7.  Cornelia de Lange syndrome.

Authors:  M I Boyle; C Jespersgaard; K Brøndum-Nielsen; A-M Bisgaard; Z Tümer
Journal:  Clin Genet       Date:  2014-10-28       Impact factor: 4.438

8.  Myelodysplasia and acute megakaryoblastic leukemia in Down's syndrome.

Authors:  A Zipursky; P Thorner; E De Harven; H Christensen; J Doyle
Journal:  Leuk Res       Date:  1994-03       Impact factor: 3.156

Review 9.  Gene regulation and chromatin organization: relevance of cohesin mutations to human disease.

Authors:  Erwan Watrin; Frank J Kaiser; Kerstin S Wendt
Journal:  Curr Opin Genet Dev       Date:  2016-01-25       Impact factor: 5.578

10.  Cohesin loss alters adult hematopoietic stem cell homeostasis, leading to myeloproliferative neoplasms.

Authors:  Jasper Mullenders; Beatriz Aranda-Orgilles; Priscillia Lhoumaud; Matthew Keller; Juhee Pae; Kun Wang; Clarisse Kayembe; Pedro P Rocha; Ramya Raviram; Yixiao Gong; Prem K Premsrirut; Aristotelis Tsirigos; Richard Bonneau; Jane A Skok; Luisa Cimmino; Daniela Hoehn; Iannis Aifantis
Journal:  J Exp Med       Date:  2015-10-05       Impact factor: 14.307
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  5 in total

1.  Potential role of STAG1 mutations in genetic predisposition to childhood hematological malignancies.

Authors:  Grazia Fazio; Giovanni Cazzaniga; Claudia Saitta; Stefano Rebellato; Laura Rachele Bettini; Giovanni Giudici; Nicolò Panini; Eugenio Erba; Valentina Massa; Franziska Auer; Ulrike Friedrich; Julia Hauer; Andrea Biondi
Journal:  Blood Cancer J       Date:  2022-06-02       Impact factor: 9.812

Review 2.  Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndrome.

Authors:  Anouchka P Laurent; Rishi S Kotecha; Sébastien Malinge
Journal:  Leukemia       Date:  2020-05-20       Impact factor: 11.528

3.  NIPBL: a new player in myeloid cell differentiation.

Authors:  Mara Mazzola; Gianluca Deflorian; Alex Pezzotta; Laura Ferrari; Grazia Fazio; Erica Bresciani; Claudia Saitta; Luca Ferrari; Monica Fumagalli; Matteo Parma; Federica Marasca; Beatrice Bodega; Paola Riva; Franco Cotelli; Andrea Biondi; Anna Marozzi; Gianni Cazzaniga; Anna Pistocchi
Journal:  Haematologica       Date:  2019-01-10       Impact factor: 9.941

4.  CPX-351 induces remission in newly diagnosed pediatric secondary myeloid malignancies.

Authors:  Yixin Hu; Kenneth J Caldwell; Mihaela Onciu; Sara M Federico; Marta Salek; Sara Lewis; Shaohua Lei; Jinghui Zhang; Kim E Nichols; Clifford M Takemoto; Brandon M Triplett; Jason E Farrar; Jeffrey E Rubnitz; Raul C Ribeiro; Marcin W Wlodarski
Journal:  Blood Adv       Date:  2022-01-25

Review 5.  Cohesin mutations in myeloid malignancies.

Authors:  Johann-Christoph Jann; Zuzana Tothova
Journal:  Blood       Date:  2021-08-26       Impact factor: 25.476
  5 in total

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