Literature DB >> 32647446

Somatic Hemizygous Y371H CBL Mutation with Loss of Heterozygosity Presenting with BENTA Type Lymphoid Proliferation.

Narender Tejwani1, Pramod Tayal2, Anurag Mehta1, Jasmita Dass3.   

Abstract

Entities:  

Year:  2019        PMID: 32647446      PMCID: PMC7326872          DOI: 10.1007/s12288-019-01243-1

Source DB:  PubMed          Journal:  Indian J Hematol Blood Transfus        ISSN: 0971-4502            Impact factor:   0.900


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  2 in total

1.  Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

Authors:  B Pérez; F Mechinaud; C Galambrun; N Ben Romdhane; B Isidor; N Philip; J Derain-Court; B Cassinat; J Lachenaud; S Kaltenbach; A Salmon; C Désirée; S Pereira; M L Menot; N Royer; O Fenneteau; A Baruchel; C Chomienne; A Verloes; H Cavé
Journal:  J Med Genet       Date:  2010-06-12       Impact factor: 6.318

2.  Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.

Authors:  Andrew S Brohl; Jeffrey R Stinson; Helen C Su; Thomas Badgett; Chester D Jennings; Gauthaman Sukumar; Sivasish Sindiri; Wei Wang; Lela Kardava; Susan Moir; Clifton L Dalgard; Jeffrey A Moscow; Javed Khan; Andrew L Snow
Journal:  J Clin Immunol       Date:  2014-10-29       Impact factor: 8.317

  2 in total
  2 in total

Review 1.  Role of CBL Mutations in Cancer and Non-Malignant Phenotype.

Authors:  Davide Leardini; Daria Messelodi; Edoardo Muratore; Francesco Baccelli; Salvatore N Bertuccio; Laura Anselmi; Andrea Pession; Riccardo Masetti
Journal:  Cancers (Basel)       Date:  2022-02-08       Impact factor: 6.639

2.  Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome.

Authors:  Francesco Saettini; Tiziana Angela Coliva; Francesca Vendemini; Marta Galbiati; Cristina Bugarin; Riccardo Masetti; Daniele Moratto; Marco Chiarini; Fabiola Guerra; Maria Iascone; Raffaele Badolato; Giovanni Cazzaniga; Charlotte Niemeyer; Christian Flotho; Andrea Biondi
Journal:  Front Pediatr       Date:  2022-07-28       Impact factor: 3.569

  2 in total

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