Detalhe da pesquisa
1.
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
Hum Genomics
; 18(1): 21, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38414044
2.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288683
3.
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
4.
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
5.
Expanding ACMG variant classification guidelines into a general framework.
Hum Genomics
; 16(1): 31, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35974416
6.
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Pancreatology
; 23(5): 507-511, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270400
7.
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.
Pancreatology
; 23(5): 491-506, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37581535
8.
Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis.
Pancreatology
; 23(8): 957-963, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37949771
9.
Tissue-Specific Regulation of CFTR Gene Expression.
Int J Mol Sci
; 24(13)2023 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37445855
10.
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
Hum Mutat
; 43(2): 228-239, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34923708
11.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
12.
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
Hum Genet
; 141(8): 1327-1338, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089416
13.
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
14.
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
15.
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Pancreatology
; 22(5): 564-571, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589511
16.
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
17.
Evaluation of aminopyrrolidine amide to improve chloride transport in CFTR-defective cells.
Bioorg Med Chem Lett
; 72: 128866, 2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35752380
18.
3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2.
Int J Mol Sci
; 23(13)2022 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35805969
19.
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.
Hum Mutat
; 42(4): 385-391, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565216
20.
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
Am J Hum Genet
; 102(5): 832-844, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706351