Detalhe da pesquisa
1.
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
Am J Med Genet A
; 194(5): e63532, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192009
2.
The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.
J Cell Sci
; 134(3)2021 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33468626
3.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Hum Genomics
; 15(1): 44, 2021 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34256850
4.
The novel c.634+4A>G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan.
Transfusion
; 62(4): 758-763, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35098548
5.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621276
6.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164801
7.
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage.
Reprod Biomed Online
; 42(4): 789-798, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658156
8.
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Transfusion
; 60(10): 2419-2431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32757236
9.
Implementation of a molecular tumor board at a regional level to improve access to targeted therapy.
Int J Clin Oncol
; 25(7): 1234-1241, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32215806
10.
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus.
Hum Genet
; 138(11-12): 1275-1286, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586237
11.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Clin Genet
; 103(3): 377-379, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36444497
12.
Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele.
Transfusion
; 58(6): 1540-1549, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29479713
13.
Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome.
Genes Chromosomes Cancer
; 56(5): 354-362, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27997717
14.
Low incidence of EPOR mutations in idiopathic erythrocytosis.
Haematologica
; 106(1): 299-301, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165487
15.
A Peruvian patient carrying the novel RHCE*cE(c.382G > C) missense allele in the RH blood group system.
Transfusion
; 61(5): E41-E43, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33694191
16.
Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.
Transfusion
; 55(6 Pt 2): 1432-43, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25808592
17.
Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France.
Transfus Med Hemother
; 42(6): 372-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26733768
18.
Hereditary pancreatitis caused by triplication of the trypsinogen locus.
Nat Genet
; 38(12): 1372-4, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17072318
19.
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
Nat Genet
; 38(6): 668-73, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16699518
20.
Next-generation sequencing is a credible strategy for blood group genotyping.
Br J Haematol
; 167(4): 554-62, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135605