SAVOIA, ANNA

SAVOIA, ANNA

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Dettaglio

	
			Nome completo
		
			SAVOIA, ANNA 	  	
			
			Afferenza
		
			Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute 	  	
			
			SSD
		
			Settore MED/03 - Genetica Medica 	  	
			
			Profilo  
		
UnityFVG

			Scopus ID
		
7007026639

Pubblicazioni

Risultati 1 - 20 di 165 (tempo di esecuzione: 0.001 secondi).

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	Titolo	Data di pubblicazione	Autori	File
1	A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect.	2010	Vettore S.; DE ROCCO, DANIELA ; Gerber B.; Scandellari R.; BIANCO, ANNA MONICA ROSARIA ; Balduini C. L.; Pecci A.; Fabris F.; SAVOIA, ANNA	-
2	A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype	2000	ZELANTE L; GASPARINI, PAOLO ; SAVOIA, ANNA ; LOMUTO M; PELLICANO R.	-
3	A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia.	2007	BORRIELLO A; LOCASCIULLI A; BIANCO AM; CRISCUOLO M; CONTI V; GRAMMATICO P; CAPPELLACCI S; ZATTERALE A; MORGESE F; CUCCIOLLA V; DELIA D; DELLA RAGIONE F; SAVOIA, ANNA	-
4	Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome	2015	Hauschner, Hagit; Mor Cohen, Ronit; MESSINEO, STEFANIA ; Mansour, Wissam; Seligsohn, Uri; SAVOIA, ANNA ; Rosenberg, Nurit	riservati
5	Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin.	2009	SAVOIA, ANNA ; NORIS P; PERROTTA S; PUNZO F; DE ROCCO, DANIELA ; OOSTRA BA; BALDUINI CL	-
6	ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients	2014	FALESCHINI, MICHELA ; C. Marconi; BOTTEGA, ROBERTA ; T. Pipucci; BAJ, Gabriele ; P. Noris; A. Pecci; C. L. Balduini; M. Seri; SAVOIA, ANNA	riservati
7	ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia	2018	FALESCHINI, MICHELA ; Melazzini, Federica; Marconi, Caterina; GIANGREGORIO, TANIA ; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; BOTTEGA, ROBERTA ; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; SAVOIA, ANNA ; Noris, Patrizia	riservati
8	ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization	2015	BOTTEGA, ROBERTA ; Marconi, Caterina; FALESCHINI, MICHELA ; BAJ, Gabriele ; Cagioni, Claudia; Pecci, Alessandro; Pippucci, Tommaso; Ramenghi, Ugo; Pardini, Simonetta; Ngu, Loretta; Baronci, Carlo; Kunishima, Shinji; Balduini, Carlo L.; Seri, Marco; SAVOIA, ANNA ; Noris, Patrizia	Open Access
9	Alteration of liver enzymes is a feature of the MYH9-related disease syndrome	2012	Pecci A.; Biino G.; Fierro T.; Bozzi V.; Mezzasoma A.; Noris P.; Ramenghi U.; Loffredo G.; Fabris F.; Momi S.; Magrini U.; Pirastu M.; SAVOIA, ANNA ; Balduini C.; Gresele P.;	-
10	Amplification of DNA from epithelial cells in urine	1989	SAVOIA, ANNA ; PIGNATTI PF; DALLAPICCOLA B; NOVELLI G.	-
11	An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p	1999	SAVOIA, ANNA ; DEL VECCHIO M; TOTARO A; PERROTTA S; AMENDOLA G; MORETTI A; ZELANTE L; IOLASCON A.	-
12	Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia	2014	Patrizia Noris; Nicole Schlegel; Catherine Klersy; Paula G. Heller; Elisa Civaschi; Nuria Pujol Moix; Fabrizio Fabris; Remi Favier; Paolo Gresele; Véronique Latger Cannard; Adam Cuker; Paquita Nurden; Andreas Greinacher; Marco Cattaneo; Erica De Candia; Alessandro Pecci; Marie Françoise Hurtaud Roux; Ana C. Glembotsky; Eduardo Muñiz Diaz; Maria Luigia Randi; Nathalie Trillot; Loredana Bury; Thomas Lecompte; Caterina Marconi; SAVOIA, ANNA ; Carlo L. Balduini; Sophie Bayart; Anne Bauters; Schéhérazade Benabdallah Guedira; Françoise Boehlen; Jeanne Yvonne Borg; BOTTEGA, ROBERTA ; James Bussel; DE ROCCO, DANIELA ; Emmanuel de Maistre; FALESCHINI, MICHELA ; Emanuela Falcinelli; Silvia Ferrari; Alina Ferster; Tiziana Fierro; Dominique Fleury; Pierre Fontana; Chloé James; Francois Lanza; Véronique Le Cam Duchez; Giuseppe Loffredo; Pamela Magini; Dominique Martin Coignard; Fanny Menard; Sandra Mercier; Annamaria Mezzasoma; Pietro Minuz; Ilaria Nichele; Lucia D. Notarangelo; Tommaso Pippucci; Gian Marco Podda; Catherine Pouymayou; Agnes Rigouzzo; Bruno Royer; Pierre Sie; Virginie Siguret; Catherine Trichet; Alessandra Tucci; Béatrice Saposnik; Dino Veneri	Open Access
13	Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici	2002	SAVOIA, ANNA	-
14	ANKRD26-related thrombocytopenia and myeloid malignancies	2013	P. Noris; R. Favier; M. C. Alessi; A. E. Geddis; S. Kunishima; P. G. Heller; P. Giordano; K. Y. Niederhoffer; J. B. Bussel; G. M. Podda; N. Vianelli; R. Kersseboom; A. Pecci; GNAN, CHIARA ; C. Marconi; A. Auvrignon; W. Cohen; J. C. Yu; A. Iguchi; A. Miller Imahiyerobo; F. Boehlen; D. Ghalloussi; DE ROCCO, DANIELA ; P. Magini; E. Civaschi; G. Biino; M. Seri; SAVOIA, ANNA ; C. L. Balduini	-
15	Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule	2013	P. Gresele; DE ROCCO, DANIELA ; L. Bury; T. Fierro; A. M. Mezzasoma; A. Pecci; SAVOIA, ANNA	-
16	Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.	2004	NORIS P; PECCI A; DI BARI F; DI STAZIO MT; DI PUMPO M; CERESA I; AREZZI N; AMBAGLIO C; SAVOIA, ANNA ; BALDUINI CL	-
17	Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group.	2000	FAIVRE L; GUARDIOLA P; LEWIS C; DOKAL I; EBELL W; ZATTERALE A; ALTAY C; POOLE JE; STONES D; KWEE ML; VAN WEEL SIPMAN M; HAVENGA C; MORGAN NV; DE WINTER J; DIGWEED M; SAVOIA, ANNA ; PRONK JC; DE RAVEL T; JANSEN S; JOENJE H; GLUCKMAN E; MATHEW C.G.	-
18	Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome	2001	SAVOIA, ANNA ; BALDUINI C; SAVINO M; NORIS N; DEL VECCHIO M; PEROTTA S; BELLETTI S; POGGI V; IOLASCON A.	-
19	Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.	2006	NORIS P; GUIDETTI GF; CONTI V; CERESA IF; DI PUMPO M; PECCI A; TORTI M; SAVOIA, ANNA ; BALDUINI C.L.	-
20	Basi Molecolari delle aplasie molecolari	2004	SAVOIA, ANNA ; Ramenghi U.; Dianzani I.	-

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