Literature DB >> 18835835

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency.

Paola Quarello, Emanuela Garelli, Alfredo Brusco, Adriana Carando, Patrizia Pappi, Marco Barberis, Valentina Coletti, Maria Francesca Campagnoli, Irma Dianzani, Ugo Ramenghi.   

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Year:  2008        PMID： 18835835     DOI： 10.3324/haematol.13423

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


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  11 in total

1.  High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

Authors:  Paola Quarello; Emanuela Garelli; Alfredo Brusco; Adriana Carando; Cecilia Mancini; Patrizia Pappi; Luciana Vinti; Johanna Svahn; Irma Dianzani; Ugo Ramenghi
Journal:  Haematologica       Date:  2012-06-11       Impact factor: 9.941

2.  Clinical utility gene card for: Diamond Blackfan anemia.

Authors:  Adrianna Vlachos; Niklas Dahl; Irma Dianzani; Jeffrey M Lipton
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

3.  Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.

Authors:  Adrianna Vlachos; Niklas Dahl; Irma Dianzani; Jeffrey M Lipton
Journal:  Eur J Hum Genet       Date:  2013-03-06       Impact factor: 4.246

4.  Ribosomal protein gene deletions in Diamond-Blackfan anemia.

Authors:  Jason E Farrar; Adrianna Vlachos; Eva Atsidaftos; Hannah Carlson-Donohoe; Thomas C Markello; Robert J Arceci; Steven R Ellis; Jeffrey M Lipton; David M Bodine
Journal:  Blood       Date:  2011-11-01       Impact factor: 22.113

Review 5.  Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.

Authors:  Jason E Farrar; Niklas Dahl
Journal:  Semin Hematol       Date:  2011-04       Impact factor: 3.851

Review 6.  Do ribosomopathies explain some cases of common variable immunodeficiency?

Authors:  S Khan; J Pereira; P J Darbyshire; S Holding; P C Doré; W A C Sewell; A Huissoon
Journal:  Clin Exp Immunol       Date:  2010-11-09       Impact factor: 4.330

7.  Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Authors:  Alexandre Bolze; Bertrand Boisson; Barbara Bosch; Alexander Antipenko; Matthieu Bouaziz; Paul Sackstein; Malik Chaker-Margot; Vincent Barlogis; Tracy Briggs; Elena Colino; Aurora C Elmore; Alain Fischer; Ferah Genel; Angela Hewlett; Maher Jedidi; Jadranka Kelecic; Renate Krüger; Cheng-Lung Ku; Dinakantha Kumararatne; Alain Lefevre-Utile; Sam Loughlin; Nizar Mahlaoui; Susanne Markus; Juan-Miguel Garcia; Mathilde Nizon; Matias Oleastro; Malgorzata Pac; Capucine Picard; Andrew J Pollard; Carlos Rodriguez-Gallego; Caroline Thomas; Horst Von Bernuth; Austen Worth; Isabelle Meyts; Maurizio Risolino; Licia Selleri; Anne Puel; Sebastian Klinge; Laurent Abel; Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2018-08-02       Impact factor: 11.205

8.  Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

Authors:  Paola Quarello; Emanuela Garelli; Adriana Carando; Alfredo Brusco; Roberto Calabrese; Carlo Dufour; Daniela Longoni; Aldo Misuraca; Luciana Vinti; Anna Aspesi; Laura Biondini; Fabrizio Loreni; Irma Dianzani; Ugo Ramenghi
Journal:  Haematologica       Date:  2009-09-22       Impact factor: 9.941

Review 9.  Diamond-Blackfan anemia.

Authors:  Lydie Da Costa; Thierry Leblanc; Narla Mohandas
Journal:  Blood       Date:  2020-09-10       Impact factor: 25.476

Review 10.  How Ribosomes Translate Cancer.

Authors:  Sergey O Sulima; Isabel J F Hofman; Kim De Keersmaecker; Jonathan D Dinman
Journal:  Cancer Discov       Date:  2017-09-18       Impact factor: 39.397
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