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Journal Articles

Chronic Thrombocytopenia in Children: What Could It Hide?

Sara Mohamed, MD, Martina Di Palma, MD, Michela Faleschini, Daniela De Benedittis, MD, Maria Luisa Moleti, MD, Luisa Cardarelli, MD, Anna Maria Testi, MD, Giovanna Palumbo, MD, Anna Savoia, Fiorina Giona, MD

Blood (2020) 136 (Supplement 1): 33–34.

https://doi.org/10.1182/blood-2020-138651

Published: 2020

Journal Articles

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Caterina Marconi, Christian A. Di Buduo, Kellie LeVine, Serena Barozzi, Michela Faleschini, Valeria Bozzi, Flavia Palombo, Spencer McKinstry, Giuseppe Lassandro, Paola Giordano, Patrizia Noris, Carlo L. Balduini, Anna Savoia, Alessandra Balduini, Tommaso Pippucci, Marco Seri, Nicholas Katsanis, Alessandro Pecci

Blood (2019) 133 (12): 1346–1357.

https://doi.org/10.1182/blood-2018-07-859496

Published: 2019

Includes: Supplemental data

Journal Articles

Shwachman-Diamond Syndrome: Energetic Stress, Calcium Homeostasis and mTOR Pathway

Carlo Dufour, MD, Silvia Ravera, PhD, Simone Cesaro, MD, Roberta Bottega, PhD, Cesare Usai, PhD, Cipolli Marco, MD, Anna Savoia, Paolo Degan, PhD, Michela Faleschini, Paola Cuccarolo, Marta Columbaro, Fabio Corsolini, Enrico Cappelli, PhD

Blood (2015) 126 (23): 2410.

https://doi.org/10.1182/blood.V126.23.2410.2410

Published: 2015

Journal Articles

ACTN1 -related thrombocytopenia: identification of novel families for phenotypic characterization

Roberta Bottega, Caterina Marconi, Michela Faleschini, Gabriele Baj, Claudia Cagioni, Alessandro Pecci, Tommaso Pippucci, Ugo Ramenghi, Simonetta Pardini, Loretta Ngu, Carlo Baronci, Shinji Kunishima, Carlo L. Balduini, Marco Seri, Anna Savoia, Patrizia Noris

Blood (2015) 125 (5): 869–872.

https://doi.org/10.1182/blood-2014-08-594531

Published: 2015

Includes: Supplemental data

Journal Articles

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

Blood (2014) 124 (6): e4–e10.

https://doi.org/10.1182/blood-2014-03-564328

Published: 2014

Journal Articles

ANKRD26 -related thrombocytopenia and myeloid malignancies

Blood (2013) 122 (11): 1987–1989.

https://doi.org/10.1182/blood-2013-04-499319

Published: 2013

Journal Articles

Clinical and Laboratory Features of 103 Patients From 42 Italian Families with Inherited Thrombocytopenia Derived From the Monoallelic Ala156Val Mutation of GPIb Alpha (Bolzano Mutation)

Blood (2011) 118 (21): 2214.

https://doi.org/10.1182/blood.V118.21.2214.2214

Published: 2011

Journal Articles

International Consortium for the Study of Clinical and Molecular Aspects of Bernard-Soulier Syndrome

Anna Savoia, PhD, Shinji Kunishima, PhD, Patrizia Noris, MD, Nuria Pujol-Moix, MD, Dermot Kenny, MD, Nurit Rosenberg, Margaret L. Rand, PhD, Barbara Zieger, MD, Ali F. Gargouri, PhD, Miriam P Beltrame, Felisa C. Molinas, MD, PhD, Mehran Karimi, MD, Christopher Ward, MB, CHB, PhD, Philip Kuriakose, MD, Nadia Ewing, MD, Carol Diamond, MD, Alok Srivastava, MD, Carlo Luigi Balduini, MD, Francois Lanza, PhD, MD

Blood (2011) 118 (21): 707.

https://doi.org/10.1182/blood.V118.21.707.707

Published: 2011

Journal Articles

Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression

Chiara Gnan, MSc, Patrizia Noris, MD, Felisa C. Molinas, MD, PhD, Shinji Kunishima, PhD, Paula Graciela Heller, M.D., Ph.D, Akihiro Iguchi, MD, PhD, Alessandro Pecci, MD, Erica Valencic, PhD, Seri Marco, MD, Silverio Perrotta, MD, Carlo Luigi Balduini, MD, Anna Savoia, PhD

Blood (2011) 118 (21): 708.

https://doi.org/10.1182/blood.V118.21.708.708

Published: 2011

Journal Articles

Application of a Diagnostic Algorithm for Inherited Thrombocytopenia Patients in the Setting of a Developing Country

Ana C Glembotsky, Rosana F Marta, Ph.D, Yesica R Espasandin, Nora P Goette, Ph.D, Fernando Negro, Noris Patrizia, MD, Anna Savoia, PhD, Alessandro Pecci, MD, Carlo Luigi Balduini, MD, Felisa C. Molinas, MD, PhD, Paula G Heller, M.D., Ph.D

Blood (2011) 118 (21): 1163.

https://doi.org/10.1182/blood.V118.21.1163.1163

Published: 2011

Journal Articles

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

Blood (2011) 117 (24): 6673–6680.

https://doi.org/10.1182/blood-2011-02-336537

Published: 2011

Journal Articles

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

Alessandro Pecci, Paolo Gresele, Catherine Klersy, Anna Savoia, Patrizia Noris, Tiziana Fierro, Valeria Bozzi, Anna Maria Mezzasoma, Federica Melazzini, Carlo L. Balduini

Blood (2010) 116 (26): 5832–5837.

https://doi.org/10.1182/blood-2010-08-304725

Published: 2010

Includes: Supplemental data

Journal Articles

Eltrombopag for the Treatment of the Inherited Thrombocytopenia Deriving From MYH9 Mutations

Alessandro Pecci, Catherine Klersy, Paolo Gresele, Anna Savoia, Tiziana Fierro, Valeria Bozzi, Anna Maria Mezzasoma, Federica Melazzini, Carlo Luigi Balduini

Blood (2010) 116 (21): 2533.

https://doi.org/10.1182/blood.V116.21.2533.2533

Published: 2010

Journal Articles

Why the disorder induced by GATA1 Arg216Gln mutation should be called “X-linked thrombocytopenia with thalassemia” rather than “X-linked gray platelet syndrome”

Carlo L. Balduini, Erica De Candia, Anna Savoia

Blood (2007) 110 (7): 2770–2771.

https://doi.org/10.1182/blood-2007-03-080978

Published: 2007

Journal Articles

Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome

Anna Savoia, Carlo L. Balduini, Maria Savino, Patrizia Noris, Maria Del Vecchio, Silverio Perrotta, Simona Belletti, Vincenzo Poggi, Achille Iolascon

Blood (2001) 97 (5): 1330–1335.

https://doi.org/10.1182/blood.V97.5.1330

Published: 2001

Journal Articles

Association of complementation group and mutation type with clinical outcome in Fanconi anemia

Blood (2000) 96 (13): 4064–4070.

https://doi.org/10.1182/blood.V96.13.4064

Published: 2000

Journal Articles

Nuclear Localization of the Fanconi Anemia Protein FANCC Is Required for Functional Activity

Anna Savoia, Irene Garcia-Higuera, Alan D. D’Andrea

Blood (1999) 93 (11): 4025–4026.

https://doi.org/10.1182/blood.V93.11.4025

Published: 1999

NARROW

Chronic Thrombocytopenia in Children: What Could It Hide?

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Shwachman-Diamond Syndrome: Energetic Stress, Calcium Homeostasis and mTOR Pathway

ACTN1 -related thrombocytopenia: identification of novel families for phenotypic characterization

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

ANKRD26 -related thrombocytopenia and myeloid malignancies

Clinical and Laboratory Features of 103 Patients From 42 Italian Families with Inherited Thrombocytopenia Derived From the Monoallelic Ala156Val Mutation of GPIb Alpha (Bolzano Mutation)

International Consortium for the Study of Clinical and Molecular Aspects of Bernard-Soulier Syndrome

Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression

Application of a Diagnostic Algorithm for Inherited Thrombocytopenia Patients in the Setting of a Developing Country

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

Eltrombopag for the Treatment of the Inherited Thrombocytopenia Deriving From MYH9 Mutations

Why the disorder induced by GATA1 Arg216Gln mutation should be called “X-linked thrombocytopenia with thalassemia” rather than “X-linked gray platelet syndrome”

Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome

Association of complementation group and mutation type with clinical outcome in Fanconi anemia

Nuclear Localization of the Fanconi Anemia Protein FANCC Is Required for Functional Activity

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American Society of Hematology

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