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Journal Articles

A Mild DBA Phenotype Associated with a Non-Canonical Splice Site Mutation in RPS26

Elisa Fermo, Marta la Vecchia, Alberto Zanella, Irma Dianzani, Paola Bianchi

Blood (2023) 142 (Supplement 1): 5673.

https://doi.org/10.1182/blood-2023-180118

Published: 2023

Journal Articles

Whole Genome Sequencing of Diamond Blackfan Anemia Syndrome Patients Detects Mutations That Alter mRNA Splicing

Stanley R Clarke, Adrianna Vlachos, Jens Lichtenberg, Nancy E Seidel, Jaya Jagadeesh, NISC Comparative SequencingProgram, Adam M. Phillippy, Jason E Farrar, Steven R Ellis, Irma Dianzani, Jeffrey M Lipton, David M Bodine

Blood (2021) 138 (Supplement 1): 863.

https://doi.org/10.1182/blood-2021-145622

Published: 2021

Journal Articles

Systematic Analyses of Clinically Relevant Single Nucleotide Polymorphisms (SNPs) of NR3C1 in Patients from the Italian Registry of Diamond Blackfan Anemia

Jiawen Li, Mayte Suarez-Farinas, Stuart Scott, PhD, Lilian Varricchio, Carolyn F. Whitsett, MD, Ugo Ramenghi, MD, Irma Dianzani, Anna Rita Migliaccio, PhD

Blood (2017) 130 (Supplement 1): 2200.

https://doi.org/10.1182/blood.V130.Suppl_1.2200.2200

Published: 2017

Journal Articles

Insights Into Diagnosis and Etiology of Diamond Blackfan Anemia by Analysis of Pre-rRNA Processing

Ross Fisher, MD, Adrianna Henson, Paola Quarello, MD, Anna Aspesi, PhD, Jason E Farrar, MD, Robert J. Arceci, MD, PhD, David M. Bodine, PhD, Irma Dianzani, MD PhD, Jeffrey M. Lipton, MD, PhD, Ugo Ramenghi, MD, Adrianna Vlachos, MD, Steven R Ellis, PhD

Blood (2012) 120 (21): 3476.

https://doi.org/10.1182/blood.V120.21.3476.3476

Published: 2012

Journal Articles

High Frequency of Large Gene Deletions Detected by Multiplex Ligation-Dependent Probe Amplification in Diamond Blackfan Anemia,

Paola Quarello, MD, Emanuela Garelli, PhD, Bsc, Adriana Carando, Bsc, Patrizia Pappi, Bsc, Alfredo Brusco, MD, PhD, Irma Dianzani, MD PhD, Ugo Ramenghi, MD

Blood (2011) 118 (21): 3428.

https://doi.org/10.1182/blood.V118.21.3428.3428

Published: 2011

Journal Articles

High Frequency of RPL11 Gene Mutation in Italian Patients with Diamond-Blackfan Anemia

Paola Quarello, Emanuela Garelli, Adriana Carando, Maria Francesca Campagnoli, Alfredo Brusco, Irma Dianzani, Ugo Ramenghi

Blood (2008) 112 (11): 3100.

https://doi.org/10.1182/blood.V112.11.3100.3100

Published: 2008

Journal Articles

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function

Rita Clementi, Annalisa Chiocchetti, Giuseppe Cappellano, Elisa Cerutti, Massimo Ferretti, Elisabetta Orilieri, Irma Dianzani, Marina Ferrarini, Marco Bregni, Cesare Danesino, Valeria Bozzi, Maria Caterina Putti, Franco Cerutti, Angela Cometa, Franco Locatelli, Rita Maccario, Ugo Ramenghi, Umberto Dianzani

Blood (2006) 108 (9): 3079–3084.

https://doi.org/10.1182/blood-2006-02-001412

Published: 2006

Journal Articles

Somatic Mosaicism and Variable Expressivity in Diamond Blackfan Anemia (DBA): A Large Deletion Involving the 19q13 Locus in a Patient with Transient Anemia.

Emanuela Garelli, PhD, BSc, Paola Quarello, MD, MariaFrancesca Campagnoli, MD, Alfredo Brusco, PhD, BSc, Adriana Carando, BSc, Elisa Menegatti, BSc, Nicoletta Crescenzio, BSc, Luiselda Foglia, BSc, Irma Dianzani, MD, PhD, Ugo Ramenghi, MD

Blood (2005) 106 (11): 3550.

https://doi.org/10.1182/blood.V106.11.3550.3550

Published: 2005

Journal Articles

Inherited Perforin and Fas Mutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma.

Rita Clementi, Lorenzo Dagna, Umberto Dianzani, Loic Dupre, Irma Dianzani, Fabio Ciceri, Rita Maccario, Franco Locatelli, Cesare Danesino, Marina Ferrarini, Marco Bregni

Blood (2004) 104 (11): 1379.

https://doi.org/10.1182/blood.V104.11.1379.1379

Published: 2004

Journal Articles

High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation

Annalisa Chiocchetti, Manuela Indelicato, Thea Bensi, Riccardo Mesturini, Mara Giordano, Selina Sametti, Luca Castelli, Flavia Bottarel, Maria Clorinda Mazzarino, Letizia Garbarini, Francesca Giacopelli, Guido Valesini, Claudio Santoro, Irma Dianzani, Ugo Ramenghi, Umberto Dianzani

Blood (2004) 103 (4): 1376–1382.

https://doi.org/10.1182/blood-2003-05-1748

Published: 2004

Journal Articles

Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer

Ugo Ramenghi, Sara Bonissoni, Giuseppe Migliaretti, Simona DeFranco, Flavia Bottarel, Caterina Gambaruto, Daniela DiFranco, Roberta Priori, Fabrizio Conti, Irma Dianzani, Guido Valesini, Franco Merletti, Umberto Dianzani

Blood (2000) 95 (10): 3176–3182.

https://doi.org/10.1182/blood.V95.10.3176

Published: 2000

Journal Articles

Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

Thiébaut-Noël Willig, Natalia Draptchinskaia, Irma Dianzani, Sarah Ball, Charlotte Niemeyer, Ugo Ramenghi, Karen Orfali, Peter Gustavsson, Emanuela Garelli, Alfredo Brusco, Christian Tiemann, Jean Louis Pérignon, Christiane Bouchier, Lawrence Cicchiello, Niklas Dahl, Narla Mohandas, Gil Tchernia

Blood (1999) 94 (12): 4294–4306.

https://doi.org/10.1182/blood.V94.12.4294

Published: 1999

Journal Articles

Deficiency of the Fas Apoptosis Pathway Without Fas Gene Mutations in Pediatric Patients With Autoimmunity/Lymphoproliferation

Umberto Dianzani, Manuela Bragardo, Daniela DiFranco, Carla Alliaudi, Paola Scagni, Donatella Buonfiglio, Valter Redoglia, Sara Bonissoni, Antonio Correra, Irma Dianzani, Ugo Ramenghi

Blood (1997) 89 (8): 2871–2879.

https://doi.org/10.1182/blood.V89.8.2871

Published: 1997

NARROW

A Mild DBA Phenotype Associated with a Non-Canonical Splice Site Mutation in RPS26

Whole Genome Sequencing of Diamond Blackfan Anemia Syndrome Patients Detects Mutations That Alter mRNA Splicing

Systematic Analyses of Clinically Relevant Single Nucleotide Polymorphisms (SNPs) of NR3C1 in Patients from the Italian Registry of Diamond Blackfan Anemia

Insights Into Diagnosis and Etiology of Diamond Blackfan Anemia by Analysis of Pre-rRNA Processing

High Frequency of Large Gene Deletions Detected by Multiplex Ligation-Dependent Probe Amplification in Diamond Blackfan Anemia,

High Frequency of RPL11 Gene Mutation in Italian Patients with Diamond-Blackfan Anemia

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function

Somatic Mosaicism and Variable Expressivity in Diamond Blackfan Anemia (DBA): A Large Deletion Involving the 19q13 Locus in a Patient with Transient Anemia.

Inherited Perforin and Fas Mutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma.

High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation

Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer

Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

Deficiency of the Fas Apoptosis Pathway Without Fas Gene Mutations in Pediatric Patients With Autoimmunity/Lymphoproliferation

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American Society of Hematology

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ASH Publications

American Society of Hematology

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