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Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.701652
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- Article
Serologically D-negative blood donors in Thailand: molecular variants and diagnostic strategy.
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- Blood Transfusion (17232007), 2023, v. 21, n. 3, p. 209, doi. 10.2450/2022.0160-22
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- Article
From the investigation of RHD-CE hybrid genes to the recognition of RHCE variants and RHD zygosity. Expanding the analysis by QMPSF in Brazilian donors and in patients with sickle cell disease.
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- Blood Transfusion (17232007), 2023, v. 21, n. 3, p. 202, doi. 10.2450/2022.0028-22
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- Article
Molecular characterization of rare D--/D-- variants in individuals of Indian origin.
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- Blood Transfusion (17232007), 2022, v. 20, n. 1, p. 59, doi. 10.2450/2020.0183-20
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- Article
Comprehensive phenotypic and molecular investigation of RhD and RhCE variants in Moroccan blood donors.
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- Blood Transfusion (17232007), 2019, v. 17, n. 2, p. 151, doi. 10.2450/2018.0153-18
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- Article
Distribution of Rhesus blood group antigens and weak D alleles in the population of Albania.
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- Blood Transfusion (17232007), 2014, v. 12, n. 4, p. 565, doi. 10.2450/2014.0240-13
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- Article
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
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- BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-6484-5
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- Publication type:
- Article
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00586-9
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- Article
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 52, doi. 10.1038/jhg.2010.143
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- Article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 15, p. 7913, doi. 10.1093/nar/gky372
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- Publication type:
- Article
Next-generation sequencing is a credible strategy for blood group genotyping.
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- British Journal of Haematology, 2014, v. 167, n. 4, p. 554, doi. 10.1111/bjh.13084
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- Article
Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France.
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- Transfusion Medicine & Hemotherapy, 2015, v. 42, n. 6, p. 372, doi. 10.1159/000382086
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- Article
Neutrons describe ectoine effects on water H-bonding and hydration around a soluble protein and a cell membrane.
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- Scientific Reports, 2016, p. 31434, doi. 10.1038/srep31434
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- Article
A Missense Mutation in the Alpha-Actinin 1 Gene (<i>ACTN1</i>) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074728
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- Article
Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.
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- Journal of Molecular Medicine, 2011, v. 89, n. 2, p. 193, doi. 10.1007/s00109-010-0699-x
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- Article
The elusive tau molecular structures: can we translate the recent breakthroughs into new targets for intervention?
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- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0682-x
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- Article
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82
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- Publication type:
- Article
Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens.
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- Transfusion Medicine & Hemotherapy, 2020, v. 47, n. 1, p. 23, doi. 10.1159/000504584
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- Publication type:
- Article
Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors.
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- Transfusion Medicine & Hemotherapy, 2020, v. 47, n. 1, p. 54, doi. 10.1159/000499087
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- Article
<bold>RHD</bold>-Positive Alleles among D- C/E+ Individuals from India.
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- Transfusion Medicine & Hemotherapy, 2018, v. 45, n. 3, p. 173, doi. 10.1159/000479239
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- Article
Chemical Imaging of RNA‐Tau Amyloid Fibrils at the Nanoscale Using Tip‐Enhanced Raman Spectroscopy.
- Published in:
- Angewandte Chemie, 2023, v. 135, n. 50, p. 1, doi. 10.1002/ange.202314369
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- Article
Translational diffusion of hydration water correlates with functional motions in folded and intrinsically disordered proteins.
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- Nature Communications, 2015, v. 6, n. 3, p. 6490, doi. 10.1038/ncomms7490
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- Article
Chemical Imaging of RNA‐Tau Amyloid Fibrils at the Nanoscale Using Tip‐Enhanced Raman Spectroscopy.
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- Angewandte Chemie International Edition, 2023, v. 62, n. 50, p. 1, doi. 10.1002/anie.202314369
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- Article
Expanding ACMG variant classification guidelines into a general framework.
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- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00407-x
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- Article
Structures of Pathological and Functional Amyloids and Prions, a Solid-State NMR Perspective.
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- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.670513
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- Article
Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles.
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- Transfusion, 2023, v. 63, n. 2, p. 402, doi. 10.1111/trf.17186
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- Article
A novel complex RHD(L62F,A137V,N152T)-CE(6-7(G336C))-D allele in a patient of African ancestry.
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- Transfusion, 2022, v. 62, n. 9, p. E49, doi. 10.1111/trf.17044
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- Article
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.
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- Transfusion, 2022, v. 62, n. 4, p. 758, doi. 10.1111/trf.16811
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- Article
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
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- Transfusion, 2021, v. 61, n. 8, p. 2468, doi. 10.1111/trf.16538
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- Article
A Peruvian patient carrying the novel RHCE*cE(c.382G > C) missense allele in the RH blood group system.
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- 2021
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- Publication type:
- journal article
Nation‐wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics.
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- Transfusion, 2021, v. 61, n. 3, p. 931, doi. 10.1111/trf.16242
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- Article
A novel JK null allele in a Brazilian patient with sickle cell disease (SCD).
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- 2019
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- journal article
Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.
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- 2019
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- Publication type:
- journal article
Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele.
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- 2018
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- journal article
First report of Rh<sub>null</sub> individuals in the Indian population and characterization of the underlying molecular mechanisms.
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- 2017
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- journal article
Identification of novel variant A alleles within the ABO gene.
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- 2016
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- Publication type:
- journal article
Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.
- Published in:
- Transfusion, 2015, v. 55, n. 6pt2, p. 1432, doi. 10.1111/trf.13083
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- Article
A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes.
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- 2013
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- Publication type:
- Journal Article
A convenient qualitative and quantitative method to investigate RHD- RHCE hybrid genes.
- Published in:
- Transfusion, 2013, v. 53, n. 11pt2, p. 2974, doi. 10.1111/trf.12179
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- Publication type:
- Article
Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles.
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- Transfusion, 2013, v. 53, n. 8, p. 1821, doi. 10.1111/trf.12009
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- Article
Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms.
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- Transfusion, 2013, v. 53, n. 1, p. 206, doi. 10.1111/j.1537-2995.2012.03713.x
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- Article
Weak D caused by a founder deletion in the RHD gene.
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- Transfusion, 2012, v. 52, n. 11, p. 2348, doi. 10.1111/j.1537-2995.2012.03606.x
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- Article
Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles.
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- Transfusion, 2012, v. 52, n. 4, p. 759, doi. 10.1111/j.1537-2995.2011.03350.x
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- Publication type:
- Article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 3, p. 1600, doi. 10.1093/nar/gkz1212
- By:
- Publication type:
- Article
Tau-Cofactor Complexes as Building Blocks of Tau Fibrils.
- Published in:
- Frontiers in Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnins.2019.01339
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- Publication type:
- Article
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2308, doi. 10.1002/humu.24491
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- Article
First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1856, doi. 10.1002/humu.23821
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- Article
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
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- Human Mutation, 2011, v. 32, n. 2, p. E2026, doi. 10.1002/humu.21422
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- Article
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
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- Human Mutation, 2009, v. 30, n. 7, p. 1093, doi. 10.1002/humu.21011
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- Article
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
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- Neurogenetics, 2011, v. 12, n. 1, p. 1, doi. 10.1007/s10048-010-0255-4
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- Article