Detalhe da pesquisa
1.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Am J Hum Genet
; 103(4): 602-611, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269814
2.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100095
3.
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Hum Mol Genet
; 26(9): 1706-1715, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334793
4.
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.
J Med Genet
; 54(3): 196-201, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27694521
5.
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.
Gastroenterology
; 150(5): 1196-1207, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26836588
6.
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.
PLoS Genet
; 9(9): e1003815, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24086152
7.
A case of C3 glomerulonephritis successfully treated with eculizumab.
Pediatr Nephrol
; 30(6): 1033-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25796589
8.
Impaired interferon-alpha production by plasmacytoid dendritic cells after cord blood transplantation in children: implication for post-transplantation toll-like receptor ligand-based immunotherapy.
Biol Blood Marrow Transplant
; 20(10): 1501-7, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25128615
9.
ICON: the early diagnosis of congenital immunodeficiencies.
J Clin Immunol
; 34(4): 398-424, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24619621
10.
Implication of different effector mechanisms by cord blood-derived and peripheral blood-derived cytokine-induced killer cells to kill precursor B acute lymphoblastic leukemia cell lines.
Cytotherapy
; 16(6): 845-56, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24529554
11.
Reconstitution of protective immune responses against cytomegalovirus and varicella zoster virus does not require disease development in pediatric recipients of umbilical cord blood transplantation.
J Immunol
; 189(10): 5016-28, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034171
12.
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
J Med Genet
; 50(5): 324-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23423984
13.
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.
J Allergy Clin Immunol
; 132(1): 151-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23727036
14.
Cord blood-derived and peripheral blood-derived cytokine-induced killer cells are sensitive to Fas-mediated apoptosis.
Biol Blood Marrow Transplant
; 19(9): 1407-11, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23856078
15.
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.
J Clin Immunol
; 33(3): 520-5, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23180359
16.
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
Blood
; 117(5): 1522-9, 2011 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21119115
17.
Fatal Mycobacterium colombiense/cytomegalovirus coinfection associated with acquired immunodeficiency due to autoantibodies against interferon gamma: a case report.
BMC Infect Dis
; 13: 24, 2013 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23336346
18.
Human interferon-alpha increases the cytotoxic effect of CD56(+) cord blood-derived cytokine-induced killer cells on human B-acute lymphoblastic leukemia cell lines.
Cytotherapy
; 14(10): 1245-57, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22974386
19.
Secondary pulmonary alveolar proteinosis after unrelated cord blood hematopoietic cell transplantation.
Pediatr Transplant
; 16(5): E146-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21395954
20.
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Nature
; 444(7115): 110-4, 2006 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-17080092