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1.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet
; 103(6): 930-947, 2018 12 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30503522
2.
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Haematologica
; 106(5): 1303-1310, 2021 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32241839
3.
Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.
Am J Hematol
; 96(11): 1491-1504, 2021 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34342889
4.
Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry.
Pediatr Blood Cancer
; 68(8): e28984, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089224
5.
Somatic mutations and clonal hematopoiesis in congenital neutropenia.
Blood
; 131(4): 408-416, 2018 01 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-29092827
6.
Are children with SARS-CoV-2 infection at high risk for thrombosis? Viscoelastic testing and coagulation profiles in a case series of pediatric patients.
Pediatr Blood Cancer
; 67(12): e28737, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33098753
7.
L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry.
Pediatr Blood Cancer
; 67(12): e28748, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33025707
8.
Molecular convergence in ex vivo models of Diamond-Blackfan anemia.
Blood
; 129(23): 3111-3120, 2017 06 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28377399
9.
Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study.
Haematologica
; 104(10): 1974-1983, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30948484
10.
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Hum Mutat
; 39(8): 1102-1111, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29766597
11.
Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors.
Blood
; 127(11): 1481-92, 2016 Mar 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-26679864
12.
Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation.
Biol Blood Marrow Transplant
; 23(5): 726-735, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28115275
13.
Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.
Biol Blood Marrow Transplant
; 23(9): 1422-1428, 2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28533057
14.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet
; 104(2): 356, 2019 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30735661
15.
Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR).
Pediatr Blood Cancer
; 63(2): 306-12, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26496000
16.
Effect of COVID-19 on anakinra-induced remission in homozygous STX11 hemophagocytosis lymphohistiocytosis.
Pediatr Blood Cancer
; 68(6): e28897, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33442938
17.
Varying presentations and favourable outcomes of COVID-19 infection in children and young adults with sickle cell disease: an additional case series with comparisons to published cases.
Br J Haematol
; 190(4): e221-e224, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32652551
18.
Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia.
Blood
; 132(20): 2205-2208, 2018 11 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30266775
19.
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.
Blood
; 122(14): 2487-90, 2013 Oct 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-23943650
20.
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.
Blood
; 119(16): 3815-9, 2012 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-22362038