When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis
Saettini, F., Coliva, T., Vendemini, F., Moratto, D., Savoldi, G., Borlenghi, E., Masetti, R., Niemeyer, C. M., Biondi, A., Balduzzi, A., Bonanomi, S.
Published in Pediatric hematology and oncology (12.07.2021)
Published in Pediatric hematology and oncology (12.07.2021)
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PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients
Chiarini, M, Sabelli, C, Melotti, P, Garlanda, C, Savoldi, G, Mazza, C, Padoan, R, Plebani, A, Mantovani, A, Notarangelo, L D, Assael, B M, Badolato, R
Published in Genes and immunity (01.12.2010)
Published in Genes and immunity (01.12.2010)
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Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene
Gentilin, B., Forzano, F., Bedeschi, M. F., Rizzuti, T., Faravelli, F., Izzi, C., Lituania, M., Rodriguez‐Perez, C., Bondioni, M. P., Savoldi, G., Grosso, E., Botta, G., Viora, E., Baffico, A. M., Lalatta, F.
Published in Ultrasound in obstetrics & gynecology (01.09.2010)
Published in Ultrasound in obstetrics & gynecology (01.09.2010)
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Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
Clementi, Rita, zur Stadt, Udo, Savoldi, Gianfranco, Varotto, Stefania, Conter, Valentino, De Fusco, Carmela, Notarangelo, Luigi D, Schneider, Marion, Klersy, Catherine, Janka, Gritta, Danesino, Cesare, Aricò, Maurizio
Published in Journal of medical genetics (01.09.2001)
Published in Journal of medical genetics (01.09.2001)
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Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
SCHUMACHER, R. F, MELLA, P, NOTARANGELO, L. D, BADOLATO, R, FIORINI, M, SAVOLDI, G, GILIANI, S, VILLA, A, CANDOTTI, F, TAMPALINI, A, O'SHEA, J. J
Published in Human genetics (01.01.2000)
Published in Human genetics (01.01.2000)
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P12.13: Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R
Tangi, A., Izzi, C., Savoldi, G., Gregorini, M., Platto, C., Prefumo, F., Signorelli, M.
Published in Ultrasound in obstetrics & gynecology (01.09.2014)
Published in Ultrasound in obstetrics & gynecology (01.09.2014)
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Journal Article
P 12.13: Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R
Tangi, A., Izzi, C., Savoldi, G., Gregorini, M., Platto, C., Prefumo, F., Signorelli, M.
Published in Ultrasound in obstetrics & gynecology (01.09.2014)
Published in Ultrasound in obstetrics & gynecology (01.09.2014)
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Journal Article
Progesterone Induced Expression of Alkaline Phosphatase Is Associated with a Secretory Phenotype in T47D Breast Cancer Cells
Dilorenzo, D., Gianni, M., Savoldi, G.F., Ferrari, F., Albertini, A., Garattini, E.
Published in Biochemical and biophysical research communications (14.05.1993)
Published in Biochemical and biophysical research communications (14.05.1993)
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Journal Article
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R
Savoldi, Gianfranco, Izzi, Claudia, Signorelli, Marino, Bondioni, Maria Pia, Romani, Chiara, Lanzi, Gaetana, Moratto, Daniele, Verdoni, Lucio, Pinotti, Moira, Prefumo, Federico, Superti-Furga, Andrea, Pilotta, Alba
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Journal Article
Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients
Tassone, Laura, PhD, Notarangelo, Lucia D., MD, Bonomi, Vanessa, PhD, Savoldi, Gianfranco, PhD, Sensi, Alberto, MD, Soresina, Annarosa, MD, Smith, C.I. Edvard, MD, Porta, Fulvio, MD, Plebani, Alessandro, MD, Notarangelo, Luigi D., MD, Badolato, Raffaele, MD, PhD
Published in Journal of allergy and clinical immunology (01.05.2009)
Published in Journal of allergy and clinical immunology (01.05.2009)
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PReS-FINAL-2230: A prospective evaluation of a cohort of patients with PFAPA syndrome
Cattalini, M, Bosio, I, Meini, A, Cancarini, P, Berlucchi, M, Savoldi, G
Published in Pediatric rheumatology online journal (05.12.2013)
Published in Pediatric rheumatology online journal (05.12.2013)
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Journal Article
PW03-002 – Calculating Gaslini diagnostic score in PFAPA
Bosio, I, Meini, A, Cancarini, P, Savoldi, G, Berlucchi, M, Cattalini, M
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
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Journal Article
OR6-003 – Prospective evaluation of PFAPA patients
Bosio, I, Meini, A, Cancarini, P, Berlucchi, M, Savoldi, G, Cattalini, M
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
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Journal Article
Progesterone agonists and antagonists induce down- and up-regulation of estrogen receptors and estrogen inducible genes in human breast cancer cell lines
Savoldi, G, Ferrari, F, Ruggeri, G, Sobek, L, Albertini, A, Di Lorenzo, D
Published in The International journal of biological markers (01.01.1995)
Published in The International journal of biological markers (01.01.1995)
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Journal Article
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
Notarangelo, Luigi D., Mella, Patrizia, Jones, Alison, de Saint Basile, Genevieve, Savoldi, Gianfranco, Cranston, Treena, Vihinen, Mauno, Schumacher, Richard Fabian
Published in Human mutation (01.10.2001)
Published in Human mutation (01.10.2001)
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Journal Article
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model
Notarangelo, L D, Giliani, S, Mazza, C, Mella, P, Savoldi, G, Rodriguez-Pérez, C, Mazzolari, E, Fiorini, M, Duse, M, Plebani, A, Ugazio, A G, Vihinen, M, Candotti, F, Schumacher, R F
Published in Immunological reviews (01.12.2000)
Published in Immunological reviews (01.12.2000)
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Journal Article
Characterization of a novel transcription complex required for glucocorticoid regulation of the rat alpha-1-acid glycoprotein gene
Ingrassia, R, Savoldi, G F, Caraffini, A, Tironi, M, Poiesi, C, Williams, P, Albertini, A, Di Lorenzo, D
Published in DNA and cell biology (01.06.1994)
Published in DNA and cell biology (01.06.1994)
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Journal Article
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain
Mella, Patrizia, Schumacher, Richard Fabian, Cranston, Treena, de Saint Basile, Genevieve, Savoldi, Gianfranco, Notarangelo, Luigi D.
Published in Human mutation (01.10.2001)
Published in Human mutation (01.10.2001)
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Journal Article
Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis
Del Giudice, E, Savoldi, G, Notarangelo, LD, Di Benedetto, L, Manganelli, F, Bruzzese, E, Romano, A, Santoro, L
Published in Acta Paediatrica (01.03.2003)
Published in Acta Paediatrica (01.03.2003)
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