Detalhe da pesquisa
1.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Blood
; 136(9): 1055-1066, 2020 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518946
2.
Predicting the Occurrence of Variants in RAG1 and RAG2.
J Clin Immunol
; 39(7): 688-701, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388879
3.
Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype.
J Clin Immunol
; 41(5): 1123-1127, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682069
4.
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype.
J Clin Immunol
; 39(3): 249-256, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30949876
5.
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.
J Allergy Clin Immunol
; 141(6): 2303-2306, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477728
6.
An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas.
BMC Clin Pathol
; 13(1): 32, 2013 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24330579
7.
Identification of autosomal recessive disease loci using out-bred nuclear families.
Hum Mutat
; 33(2): 338-42, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22052625
8.
Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.
J Clin Immunol
; 37(7): 617-622, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28808844
9.
Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder.
Elife
; 102021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34908525
10.
A Case of Adult-Onset Still's Disease Caused by a Novel Splicing Mutation in TNFAIP3 Successfully Treated With Tocilizumab.
Front Immunol
; 9: 1527, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30022980
11.
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.
Arch Ophthalmol
; 125(1): 98-104, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17210859
12.
Novel human pathological mutations. Gene symbol: F13A1. Disease: Factor XIII Deficiency.
Hum Genet
; 127(1): 115-6, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20108427
13.
Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.
Haematologica
; 90(12): 1718-20, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16330458
14.
The Arg703Trp missense mutation in F13A1 is a de novo event.
Br J Haematol
; 146(1): 118-20, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19438481
15.
Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran.
Br J Haematol
; 140(5): 581-4, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18275437
16.
Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.
PLoS One
; 7(8): e43466, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22912880
17.
Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management.
Pediatrics
; 109(2): E32, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11826242