Terms: = Leukemia AND SBDS, SWDS, 51119, ENSG00000126524, FLJ10917, CGI-97, Q9Y3A5 AND Diagnosis
6 results:
1. Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I; De Paoli F; Foroni S; Zucca S; Limongelli I; Cipolli M; Danesino C; Ramenghi U; Minelli A
Genes (Basel); 2022 Jul; 13(8):. PubMed ID: 35893049
[TBL] [Abstract] [Full Text] [Related]
2. A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.
Cesaro S; Pegoraro A; Sainati L; Lucidi V; Montemitro E; Corti P; Ramenghi U; Nasi C; Menna G; Zecca M; Danesino C; Nicolis E; Pasquali F; Perobelli S; Tridello G; Farruggia P; Cipolli M
J Pediatr; 2020 Apr; 219():196-201.e1. PubMed ID: 32037152
[TBL] [Abstract] [Full Text] [Related]
3. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.
Myers KC; Furutani E; Weller E; Siegele B; Galvin A; Arsenault V; Alter BP; Boulad F; Bueso-Ramos C; Burroughs L; Castillo P; Connelly J; Davies SM; DiNardo CD; Hanif I; Ho RH; Karras N; Manalang M; McReynolds LJ; Nakano TA; Nalepa G; Norkin M; Oberley MJ; Orgel E; Pastore YD; Rosenthal J; Walkovich K; Larson J; Malsch M; Elghetany MT; Fleming MD; Shimamura A
Lancet Haematol; 2020 Mar; 7(3):e238-e246. PubMed ID: 31879230
[TBL] [Abstract] [Full Text] [Related]
4. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.
Donadieu J; Fenneteau O; Beaupain B; Beaufils S; Bellanger F; Mahlaoui N; Lambilliotte A; Aladjidi N; Bertrand Y; Mialou V; Perot C; Michel G; Fouyssac F; Paillard C; Gandemer V; Boutard P; Schmitz J; Morali A; Leblanc T; Bellanné-Chantelot C;
Haematologica; 2012 Sep; 97(9):1312-9. PubMed ID: 22491737
[TBL] [Abstract] [Full Text] [Related]
5. [Shwachman-Diamond syndrome--a diagnostic challenge].
Toiviainen-Salo S; Savilahti E; Mäkitie R; Mäkitie O
Duodecim; 2010; 126(14):1711-9. PubMed ID: 20804090
[TBL] [Abstract] [Full Text] [Related]
6. Mutation analysis of sbds in pediatric acute myeloblastic leukemia.
Majeed F; Jadko S; Freedman MH; Dror Y
Pediatr Blood Cancer; 2005 Dec; 45(7):920-4. PubMed ID: 16007594
[TBL] [Abstract] [Full Text] [Related]
