SAVOIA, ANNA

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	Titolo	Data di pubblicazione	Autori	File
1	Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium	1990	SAVOIA, ANNA ; ITALY; KOMEL R; YUGOSLAVIA	-
2	Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome"	2007	BALDUINI CL; DE CANDIA E; SAVOIA, ANNA	-
3	Unusual splice site mutations disrupt FANCA exon 8 definition.	2014	Mattioli C; Pianigiani G; DE ROCCO, DANIELA ; Bianco AM; Cappelli E; SAVOIA, ANNA ; Pagani F.	-
4	Unexplained recurrent venous thrombosis in a patient with MYH9-related disease	2006	HELLER PG; PECCI A; GLEMBOTSKY AC; SAVOIA, ANNA ; NEGRO FD; BALDUINI CL; MOLINAS FC	-
5	Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim	2018	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	Open Access
6	The search for South European Cystic Fibrosis mutations: identifiaction of two new mutations, four variants and intronic sequences	1991	NUNES V; SAVOIA, ANNA ; DOGNINI M; MORRAL M; GAONA A; BONIZZATO A; CHILLON M; SANGIUOLO F; NOVELLI G; DALLAPICCOLA B; PIGNATTI PF; ESTIVILL X.	-
7	The PISSLRE gene: structure, exon skipping and exclusion as tumor suppressor in breast cancer.	1999	CRAWFORD J; IANZANO L; SAVINO M; WHITMORE M; CLETON JANSEN AM; SETTASATIAN C; D'APOLITO, M; SESHADRI R; PRONK JC; AUERBACH AD; VERLANDER PC; MATHEW CG; TIPPING AJ; DOGGETT NA; ZELANTE L; CALLEN DF; SAVOIA, ANNA	-
8	The genotype of a new linked DNA marker, MP6-d9, is related to the clinical course of Cystic Fibrosis	1990	NOVELLI G; ESTIVILL X; OLIVIERI D; SAVOIA, ANNA ; RUZZO A; NUNES V; BORGO G; ANTONELLI M; WILLIAMSON R; PIGNATTI PF; DALLAPICCOLA B.	-
9	The genomic organization of the Fanconi anaemia group A (FAA) gene	1997	IANZANOL; D'APOLITO M; CENTRA M; SAVINO M; LEVRAN O; AUERBACH AD; CLETON JANSEN A. M; DOGGETT N; PRONK JC; TIPPING AJ; GIBSON RA; MATHEW CG; WHITMORE SA; APOSTOLOU S; CALLEN DF; ZELANTE L; SAVOIA, ANNA	-
10	The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1	2000	MARTIGNETTI JA; HEATH KE; HARRIS J; BIZZARO N; SAVOIA, ANNA ; BALDUINI CL; DESNICK RJ	-
11	The Epstein syndrome: a further renal disorder due to mutations in the nonmuscle myosin heavy chain 9 gene	2002	SERI M; SAVINO M; BORDO D; CUSANO R; MELONI I; MALATESTA P; CAPRIA M; PASI A. KOIVISTO PA; BOLOGNESI M; GHIGGERI GM; BALDUINI CL; ZELANTE L; RAVAZZOLO R; RENIERI A; SAVOIA, ANNA	-
12	THE CYSTIC FIBROSIS GENE IS NOT LIKELY TO BE INVOLVED IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE	1990	SAVOIA, ANNA ; LUISETTI M; PEONA V; PIGNATTI PF	-
13	The characterization of the 5' region of the Fanconi Anemia Group C (FACC) gene	1995	SAVOIA, ANNA ; CENTRA M; IANZANO L; DE CILLIS GP; ZELANTE L; BUCHAWALD M.	-
14	(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome.	1999	IOLASCON A; FAIENZA MF; CENTRA C; STORELLI S; ZELANTE L; SAVOIA, ANNA	-
15	Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical?	2014	BOTTEGA, ROBERTA ; Cappelli, E.; ZWEYER, MARINA ; De Rocco, D.; VALENCIC, ERICA ; Svahn, J.; BORTUL, Roberta ; NICCHIA, ELENA ; CARUSO, PAOLA ; Bagnasco, F.; GRECO, CHIARA ; Dufour, C.; SAVOIA, ANNA	riservati
16	Spontaneous functional correction of homozygous Fanconi anemia alleles reveals novel mechanistic basis for reverse mosaicism	1999	WAISFISZ Q; MORGAN NV; SAVINO M; DE WINTER JP; VAN BERKEL CGM; IANZANO L; GIBSON RA; ARWERT F; SAVOIA, ANNA ; MATHEW CG; PRONK JC; JOENJE H.	-
17	Spectrum of the mutations in bernard-soulier syndrome.	2014	SAVOIA, ANNA ; Kunishima S; DE ROCCO, DANIELA ; Zieger B; Rand ML; Pujol Moix N; Caliskan U; Tokgoz H; Pecci A; Noris P; Srivastava A; Ward C; Morel Kopp MC; Alessi MC; Bellucci S; Beurrier P; de Maistre E; Favier R; Hézard N; Hurtaud Roux MF; Latger Cannard V; Lavenu Bombled C; Proulle V; Meunier S; Négrier C; Nurden A; Randrianaivo H; Fabris F; Platokouki H; Rosenberg N; HadjKacem B; Heller PG; Karimi M; Balduini CL; Pastore A; Lanza F.	-
18	Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of eleven novel alleles	2004	SAVINO M; DAPOLITO M; FORMICA V; BAORDA F; MARI F; RENIERI A; CARABBA E; TARANTINO E; ANDREUCCI E; BELLI B; LO MUZIO L; DALLAPICCOLA B; ZELANTE L; SAVOIA, ANNA	-
19	Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of S858R variant	2003	SAVINO M; BORRIELLO A; DAPOLITO M; CRISCUOLO M; DEL VECCHIO M; BIANCO AM; DI PERNA M; CALZONE R; NOBILI B; ZATTERALE A; ZELANTE L; JOENJE H; DELLA RAGIONE F; SAVOIA, ANNA	-
20	Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology–Oncology)	2016	Svahn, Johanna; Bagnasco, Francesca; Cappelli, Enrico; Onofrillo, Daniela; Caruso, Silvia; Corsolini, Fabio; DE ROCCO, DANIELA ; SAVOIA, ANNA ; Longoni, Daniela; Pillon, Marta; Marra, Nicoletta; Ramenghi, Ugo; Farruggia, Piero; Locasciulli, Anna; Addari, Carmen; Cerri, Carla; Mastrodicasa, Elena; Casazza, Gabriella; VERZEGNASSI, FEDERICO ; Riccardi, Francesca; Haupt, Riccardo; Barone, Angelica; Cesaro, Simone; Cugno, Chiara; Dufour, Carlo	riservati

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