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Genetics of familial forms of thrombocytopenia
Author / Creator:Balduini, Carlo L. ; Savoia, Anna
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2012-12, Vol.131 (12), p.1821-1832
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Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim
Author / Creator:Pecci, Alessandro ; Ragab, Iman ; Bozzi, Valeria ; De Rocco, Daniela ; Barozzi, Serena ; Giangregorio, Tania ; Ali, Heba ; Melazzini, Federica ; Sallam, Mohamed ; Alfano, Caterina ; Pastore, Annalisa ; Balduini, Carlo L ; Savoia, Anna
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2018-01, Vol.10 (1), p.63-75
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Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6
Author / Creator:Capaci, Valeria ; Zanchetta, Melania Eva ; Fontana, Giorgia ; Ammeti, Daniele ; Bottega, Roberta ; Faleschini, Michela ; Savoia, Anna
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2025-01, Vol.14 (1), p.23
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Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome
Author / Creator:Pecci, Alessandro ; Biino, Ginevra ; Fierro, Tiziana ; Bozzi, Valeria ; Mezzasoma, Annamaria ; Noris, Patrizia ; Ramenghi, Ugo ; Loffredo, Giuseppe ; Fabris, Fabrizio ; Momi, Stefania ; Magrini, Umberto ; Pirastu, Mario ; Savoia, Anna ; Balduini, Carlo ; Gresele, Paolo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-04, Vol.7 (4), p.e35986-e35986
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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
Author / Creator:Persico, Ilaria ; Feresin, Agnese ; Faleschini, Michela ; Fontana, Giorgia ; Sirchia, Fabio ; Faletra, Flavio ; La Bianca, Martina ; Suergiu, Sarah ; Morgutti, Marcello ; Maschio, Massimo ; D'Adamo, Adamo Pio ; Raraigh, Karen S. ; Savoia, Anna ; Bottega, Roberta
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-06, Vol.10 (6), p.e1926-n/a
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Fanconi Anemia Patients Are More Susceptible to Infection with Tumor Virus SV40
Author / Creator:Comar, Manola ; De Rocco, Daniela ; Cappelli, Enrico ; Zanotta, Nunzia ; Bottega, Roberta ; Svahn, Johanna ; Farruggia, Piero ; Misuraca, Aldo ; Corsolini, Fabio ; Dufour, Carlo ; Savoia, Anna
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-11, Vol.8 (11), p.e79683-e79683
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Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
Author / Creator:Noetzli, Leila ; Lo, Richard W ; Lee-Sherick, Alisa B ; Callaghan, Michael ; Noris, Patrizia ; Savoia, Anna ; Rajpurkar, Madhvi ; Jones, Kenneth ; Gowan, Katherine ; Balduini, Carlo L ; Pecci, Alessandro ; Gnan, Chiara ; De Rocco, Daniela ; Doubek, Michael ; Li, Ling ; Lu, Lily ; Leung, Richard ; Landolt-Marticorena, Carolina ; Hunger, Stephen ; Heller, Paula ; Gutierrez-Hartmann, Arthur ; Xiayuan, Liang ; Pluthero, Fred G ; Rowley, Jesse W ; Weyrich, Andrew S ; Kahr, Walter H A ; Porter, Christopher C ; Di Paola, Jorge
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-05, Vol.47 (5), p.535-538
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A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly
Author / Creator:Barozzi, Serena ; Bozzi, Valeria ; De Rocco, Daniela ; Giangregorio, Tania ; Noris, Patrizia ; Savoia, Anna ; Pecci, Alessandro
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2021-10, Vol.22 (19), p.10190
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GP1BB c.179C > T is the most frequent cause of monoallelic Bernard–Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families
Author / Creator:Barozzi, Serena ; Pecci, Alessandro ; Marinoni, Maddalena ; Fontana, Giorgia ; Zanchetta, Melania Eva ; Noris, Patrizia ; Savoia, Anna ; Faleschini, Michela
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Annals of hematology, 2023-03, Vol.102 (3), p.677-679
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Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?
Author / Creator:Ammeti, Daniele ; De Simone, Tonia ; Zampieri, Stefania ; Bon, Cristina ; Zanchetta, Melania Eva ; Bottega, Roberta ; Faleschini, Michela ; Savoia, Anna
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-01, Vol.16 (2), p.112
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Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles
Author / Creator:Savino, Maria ; d'Apolito, Maria ; Formica, Vincenza ; Baorda, Filomena ; Mari, Francesca ; Renieri, Alessandra ; Carabba, Enrico ; Tarantino, Enrico ; Andreucci, Elena ; Belli, Serena ; Muzio, Lorenzo Lo ; Dallapiccola, Bruno ; Zelante, Leopoldo ; Savoia, Anna
Journal title:Human mutation, 2004-11, Vol.24 (5), p.441-441
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Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome
Author / Creator:Ravera, Silvia ; Dufour, Carlo ; Cesaro, Simone ; Bottega, Roberta ; Faleschini, Michela ; Cuccarolo, Paola ; Corsolini, Fabio ; Usai, Cesare ; Columbaro, Marta ; Cipolli, Marco ; Savoia, Anna ; Degan, Paolo ; Cappelli, Enrico
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-05, Vol.6 (1), p.25441, Article 25441
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Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells
Author / Creator:Necchi, Vittorio ; Sommi, Patrizia ; Vitali, Agostina ; Vanoli, Alessandro ; Savoia, Anna ; Ricci, Vittorio ; Solcia, Enrico
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Histochemistry and cell biology, 2014-05, Vol.141 (5), p.483-497
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Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?
Author / Creator:Bottega, Roberta ; Napolitano, Luisa M. R. ; Carbone, Anna ; Cappelli, Enrico ; Corsolini, Fabio ; Onesti, Silvia ; Savoia, Anna ; Gasparini, Paolo ; Faletra, Flavio
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e639-n/a
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Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology
Author / Creator:Nicchia, Elena ; Greco, Chiara ; De Rocco, Daniela ; Pecile, Vanna ; D'Eustacchio, Angela ; Cappelli, Enrico ; Corti, Paola ; Marra, Nicoletta ; Ramenghi, Ugo ; Pillon, Marta ; Farruggia, Piero ; Dufour, Carlo ; Pallavicini, Alberto ; Torelli, Lucio ; Savoia, Anna
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2015-11, Vol.3 (6), p.500-512
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MYH9-related disease: Report on five German families and description of a novel mutation
Author / Creator:Savoia, Anna ; Germeshausen, Manuela ; De Rocco, Daniela ; Henschel, Bettina ; Kratz, Christian P. ; Kuhlen, Michaela ; Rath, Bettina ; Steuhl, Klaus-Peter ; Wermes, Cornelia ; Ballmaier, Matthias
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Annals of hematology, 2010-10, Vol.89 (10), p.1057-1059
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Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA
Author / Creator:Martinelli, Marcella ; Di Stazio, Mariateresa ; Scapoli, Luca ; Marchesini, Jlenia ; Di Bari, Filomena ; Pezzetti, Furio ; Carinci, Francesco ; Palmieri, Annalisa ; Carinci, Paolo ; Savoia, Anna
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2007-06, Vol.44 (6), p.387-392
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Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles
Author / Creator:Savino, Maria ; d'Apolito, Maria ; Formica, Vincenza ; Baorda, Filomena ; Mari, Francesca ; Renieri, Alessandra ; Carabba, Enrico ; Tarantino, Enrico ; Andreucci, Elena ; Belli, Serena ; Muzio, Lorenzo Lo ; Dallapiccola, Bruno ; Zelante, Leopoldo ; Savoia, Anna
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-11, Vol.24 (5), p.441-441
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A computational study of the fold and stability of cytochrome c with implications for disease
Author / Creator:Muhammad Abrar Yousaf ; Meli, Massimiliano ; Colombo, Giorgio ; Savoia, Anna ; Pastore, Annalisa
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2025-03
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Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant
Author / Creator:Savino, Maria ; Borriello, Adriana ; d'Apolito, Maria ; Criscuolo, Maria ; Del Vecchio, Maria ; Bianco, Anna Monica ; Di Perna, Michele ; Calzone, Rita ; Nobili, Bruno ; Zatterale, Adriana ; Zelante, Leopoldo ; Joenje, Hans ; Della Ragione, Fulvio ; Savoia, Anna
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-10, Vol.22 (4), p.338-339
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Showing 1 to 20 of 23 results

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Genetics of familial forms of thrombocytopenia

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Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

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Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6

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Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

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Fanconi Anemia Patients Are More Susceptible to Infection with Tumor Virus SV40

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Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

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A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly

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GP1BB c.179C > T is the most frequent cause of monoallelic Bernard–Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families

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Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?

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Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles

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Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

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Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells

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Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

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Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology

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MYH9-related disease: Report on five German families and description of a novel mutation

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Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA

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Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles

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A computational study of the fold and stability of cytochrome c with implications for disease

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Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant

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