Detalhe da pesquisa
1.
Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.
Eur J Pediatr
; 179(2): 251-256, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31709473
2.
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Clin Exp Immunol
; 195(2): 202-212, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30307608
3.
Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT.
J Clin Immunol
; 43(8): 1770-1773, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37624468
4.
A cross-sectional study on self-management of pressure ulcer prevention in paraplegic patients.
J Tissue Viability
; 26(1): 69-74, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27622272
5.
Levels of somatic hypermutations in B cell receptors increase during childhood.
Clin Exp Immunol
; 178(2): 394-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25039369
6.
CD3G gene defects in familial autoimmune thyroiditis.
Scand J Immunol
; 80(5): 354-61, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24910257
7.
Quantifying independent risk factors for failing to rescreen in a breast cancer screening program in Flanders, Belgium.
Prev Med
; 69: 280-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25456812
8.
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.
Eur J Pediatr
; 173(12): 1695-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24723092
9.
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.
Front Immunol
; 14: 1095123, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197664
10.
Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.
Genes Immun
; 12(6): 434-44, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21390052
11.
Dose-dense therapy is of benefit in primary treatment of ovarian cancer: contra.
Ann Oncol
; 22 Suppl 8: viii33-viii39, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180397
12.
Chemosensitivity and outcome of BRCA1- and BRCA2-associated ovarian cancer patients after first-line chemotherapy compared with sporadic ovarian cancer patients.
Ann Oncol
; 22(6): 1346-1352, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21228333
13.
Age-matched reference values for B-lymphocyte subpopulations and CVID classifications in children.
Scand J Immunol
; 74(5): 502-10, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21815909
14.
Considerations for radiotherapy in Bloom Syndrome: A case series.
Eur J Med Genet
; 64(10): 104293, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352413
15.
B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele.
Genes Immun
; 11(7): 523-30, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20445561
16.
TACI mutations and disease susceptibility in patients with common variable immunodeficiency.
Clin Exp Immunol
; 156(1): 35-9, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19210517
17.
The prediction of progression-free and overall survival in women with an advanced stage of epithelial ovarian carcinoma.
BJOG
; 116(3): 372-80, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19187369
18.
Management of surgical stage III and IV endometrioid endometrial carcinoma: an overview.
Int J Gynecol Cancer
; 19(3): 431-46, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19407572
19.
Management of recurrent endometrioid endometrial carcinoma: an overview.
Int J Gynecol Cancer
; 19(3): 314-20, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19407552
20.
Promoter hypermethylation of FANCF and outcome in advanced ovarian cancer.
Br J Cancer
; 98(8): 1452-6, 2008 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-18414472