Detalhe da pesquisa
1.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38579284
2.
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Lancet
; 402(10396): 129-140, 2023 07 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37352885
3.
Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.
Blood
; 140(7): 685-705, 2022 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35671392
4.
Gaps in diagnosing suspected infection in immunocompromised children with cancer: A systematic review.
Pediatr Blood Cancer
; 71(2): e30794, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38059641
5.
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
J Allergy Clin Immunol
; 151(2): 547-555.e5, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36456360
6.
Severe, life-threatening, and fatal chronic health conditions after allogeneic blood or marrow transplantation in childhood.
Cancer
; 129(4): 624-633, 2023 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-36484292
7.
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Blood
; 135(23): 2094-2105, 2020 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32268350
8.
Retrospective Application of Sinusoidal Obstruction Syndrome/Veno-occlusive Disease Diagnostic Criteria in a Pediatric Hematopoietic Stem Cell Transplant Cohort.
J Pediatr Hematol Oncol
; 44(2): e343-e348, 2022 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35200220
9.
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
J Pediatr
; 230: 55-61.e4, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32971146
10.
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Haematologica
; 106(5): 1303-1310, 2021 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32241839
11.
Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.
J Allergy Clin Immunol
; 145(1): 358-367.e2, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31600545
12.
SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.
Blood
; 132(17): 1737-1749, 2018 10 25.
Artigo
Inglês
| MEDLINE | ID: mdl-30154114
13.
Understanding the evolving phenotype of vascular complications in telomere biology disorders.
Angiogenesis
; 22(1): 95-102, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30168024
14.
Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.
Blood
; 130(25): 2718-2727, 2017 12 21.
Artigo
Inglês
| MEDLINE | ID: mdl-29021228
15.
Bone Marrow Transplantation after Nonmyeloablative Treosulfan Conditioning Is Curative in a Murine Model of Sickle Cell Disease.
Biol Blood Marrow Transplant
; 24(8): 1554-1562, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29684562
16.
Transplantation outcomes for severe combined immunodeficiency, 2000-2009.
N Engl J Med
; 371(5): 434-46, 2014 Jul 31.
Artigo
Inglês
| MEDLINE | ID: mdl-25075835
17.
Validation of single-gene noninvasive prenatal testing for sickle cell disease.
Am J Hematol
; 97(7): E270-E273, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35429177
18.
Inferior outcomes for black children with high risk acute lymphoblastic leukemia and the impact of socioeconomic variables.
Pediatr Blood Cancer
; 64(2): 267-274, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27650428
19.
Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.
Nature
; 464(7286): 292-6, 2010 Mar 11.
Artigo
Inglês
| MEDLINE | ID: mdl-20164838
20.
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.
Biol Blood Marrow Transplant
; 19(8): 1238-43, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23751955