Detalhe da pesquisa
1.
Poor outcome after hematopoietic stem cell transplantation of patients with unclassified inherited bone marrow failure syndromes.
Eur J Haematol
; 108(4): 278-287, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897809
2.
Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry.
Br J Haematol
; 189(5): 976-981, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32128787
3.
Response to treatment with azacitidine in children with advanced myelodysplastic syndrome prior to hematopoietic stem cell transplantation.
Haematologica
; 101(12): 1508-1515, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27540140
4.
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
J Med Genet
; 52(9): 575-84, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26136524
5.
The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.
Haematologica
; 100(5): 633-42, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25682607
6.
Decisional regret after distal hypospadias repair: single institution prospective analysis of factors associated with subsequent parental remorse or distress.
J Urol
; 191(5 Suppl): 1558-63, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24679868
7.
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Blood
; 129(11): 1557-1562, 2017 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28062395
8.
Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.
J Clin Immunol
; 33(7): 1150-5, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23943155
9.
Analysis of decisional conflict among parents who consent to hypospadias repair: single institution prospective study of 100 couples.
J Urol
; 188(2): 571-5, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22704113
10.
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
NPJ Genom Med
; 4: 30, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31839986
11.
The clinical impact of copy number variants in inherited bone marrow failure syndromes.
NPJ Genom Med
; 22017 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28690869
12.
Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol.
Pediatr Pulmonol
; 50(12): E48-51, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26083318