Detalhe da pesquisa
1.
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
J Med Genet
; 56(5): 340-346, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327448
2.
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
J Med Genet
; 52(11): 738-48, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26342108
3.
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
4.
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Blood
; 129(11): 1557-1562, 2017 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28062395
5.
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
6.
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome.
Pediatr Blood Cancer
; 60(5): 754-60, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23303473
7.
Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation.
J Pediatr Hematol Oncol
; 32(6): 479-85, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20562651
8.
Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure.
JCI Insight
; 5(4)2020 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31990679
9.
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
10.
Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia.
Leukemia
; 36(8): 2132-2135, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35643866
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