RE-BVS – Piemonte Repository

Sfoglia per AUTORE
GASPARINI P
Collezione AOU San Luigi di Orbassano

Items : 6

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. in American journal of medical genetics. Part A / Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22.

2022
AOU San Luigi di Orbassano

Sy MR; Chauhan J; Prescott K; Imam A; Kraus A; Beleza A; Salkeld L; Hosdurga S; Parker M; Vasudevan P; Islam L; Goel H; Bain N; Park SM; Mohammed S; Dieterich K; Coutton C; Satre V; Vieville G; Donaldson A; Beneteau C; Ghoumid J; Van Den Bogaert K; Boogaerts A; Boudry E; Vanlerberghe C; Petit F; Bernardini L; Torres B; et alii...

Natural history of juvenile haemochromatosis. in British journal of haematology / Br J Haematol. 2002 Jun;117(4):973-9. doi: 10.1046/j.1365-2141.2002.03509.x.

2002
AOU San Luigi di Orbassano

De Gobbi M; Roetto A; Piperno A; Mariani R; Alberti F; Papanikolaou G; Politou M; Lockitch G; Girelli D; Fargion S; Cox TM; Gasparini P; Cazzola M; Camaschella C;

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. in Blood / Blood. 2001 May 1;97(9):2555-60. doi: 10.1182/blood.v97.9.2555.

2001
AOU San Luigi di Orbassano

Roetto A; Totaro A; Piperno A; Piga A; Longo F; Garozzo G; Calì A; De Gobbi M; Gasparini P; Camaschella C;

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. in Nature genetics / Nat Genet. 2000 May;25(1):14-5. doi: 10.1038/75534.

2000
AOU San Luigi di Orbassano

Camaschella C; Roetto A; Calì A; De Gobbi M; Garozzo G; Carella M; Majorano N; Totaro A; Gasparini P;

Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21. in Blood cells, molecules & diseases / Blood Cells Mol Dis. 2000 Jun;26(3):205-10. doi: 10.1006/bcmd.2000.0297.

2000
AOU San Luigi di Orbassano

Roetto A; Alberti F; Daraio F; Cali A; Cazzola M; Totaro A; Gasparini P; Camaschella C;

A frequent polymorphism in the 5' region of the BCMA gene. in Molecular and cellular probes / Mol Cell Probes. 1997 Aug;11(4):311-2. doi: 10.1006/mcpr.1997.0115.

1997
AOU San Luigi di Orbassano

Roetto A; Cicilano M; Gottardi E; Totaro A; Carella M; Gasparini P; Camaschella C;