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Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
- Published in:
- 2020
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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.
- Published in:
- 2018
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- Publication type:
- journal article
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9278518
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- Publication type:
- Article
Risk factors for the Long-Term Efficacy, Recurrence, and Metastasis in Small Hepatocellular Carcinomas.
- Published in:
- Cell Biochemistry & Biophysics, 2015, v. 72, n. 2, p. 627, doi. 10.1007/s12013-015-0514-y
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- Publication type:
- Article
Serum CA242, CA199, CA125, CEA, and TSGF are Biomarkers for the Efficacy and Prognosis of Cryoablation in Pancreatic Cancer Patients.
- Published in:
- Cell Biochemistry & Biophysics, 2015, v. 71, n. 3, p. 1287, doi. 10.1007/s12013-014-0345-2
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- Publication type:
- Article
Evolution of Trypsinogen Activation Peptides.
- Published in:
- Molecular Biology & Evolution, 2003, v. 20, n. 11, p. 1767, doi. 10.1093/molbev/msg183
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- Publication type:
- Article
A Combined Analysis of the Cystic Fibrosis Transmembrane Conductance Regulator: Implications for Structure and Disease Models.
- Published in:
- Molecular Biology & Evolution, 2001, v. 18, n. 9, p. 1771, doi. 10.1093/oxfordjournals.molbev.a003965
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- Publication type:
- Article
The 10-Mb paracentric inversion of chromosome arm 2p in activating MSH2 and causing hereditary nonpolyposis colorectal cancer: Re-annotation and mutational mechanisms.
- Published in:
- Genes, Chromosomes & Cancer, 2008, v. 47, n. 6, p. 543, doi. 10.1002/gcc.20556
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- Publication type:
- Article
Plasma levels of interleukin‐8 and response to paroxetine in patients with major depressive disorder.
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- Human Psychopharmacology: Clinical & Experimental, 2022, v. 37, n. 6, p. 1, doi. 10.1002/hup.2855
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- Publication type:
- Article
Genetics of osteoporosis: accelerating pace in gene identification and validation.
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- Human Genetics, 2010, v. 127, n. 3, p. 249, doi. 10.1007/s00439-009-0773-z
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- Publication type:
- Article
Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.
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- Human Genetics, 2010, v. 127, n. 1, p. 45, doi. 10.1007/s00439-009-0742-6
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- Publication type:
- Article
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.
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- Human Genetics, 2008, v. 123, n. 5, p. 521, doi. 10.1007/s00439-008-0508-6
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- Publication type:
- Article
Association of rare chymotrypsinogen C ( CTRC) gene variations in patients with idiopathic chronic pancreatitis.
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- Human Genetics, 2008, v. 123, n. 1, p. 83, doi. 10.1007/s00439-007-0459-3
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- Publication type:
- Article
A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants.
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- Human Genetics, 2006, v. 120, n. 3, p. 301, doi. 10.1007/s00439-006-0218-x
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- Publication type:
- Article
A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview.
- Published in:
- Human Genetics, 2006, v. 120, n. 1, p. 1, doi. 10.1007/s00439-006-0180-7
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- Publication type:
- Article
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.
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- Human Genetics, 2005, v. 117, n. 5, p. 411, doi. 10.1007/s00439-005-1321-0
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- Publication type:
- Article
Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.
- Published in:
- Human Genetics, 2001, v. 109, n. 3, p. 245, doi. 10.1007/s004390100580
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- Publication type:
- Article
Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene.
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- Human Genetics, 2000, v. 106, n. 1, p. 125, doi. 10.1007/s004390051019
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- Publication type:
- Article
Lentivirus-mediated Inhibition of Tumour Necrosis Factor-α improves motor function associated with PRDX6 in spinal cord contusion rats.
- Published in:
- Scientific Reports, 2015, p. 8486, doi. 10.1038/srep08486
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- Publication type:
- Article
Mammalian lignans enterolactone and enterodiol, alone and in combination with the isoflavone genistein, do not promote the growth of MCF-7 xenografts in ovariectomized athymic nude mice.
- Published in:
- International Journal of Cancer, 2006, v. 118, n. 5, p. 1316, doi. 10.1002/ijc.21464
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- Publication type:
- Article
Idiopathic vs hereditary pancreatitis.
- Published in:
- 2003
- By:
- Publication type:
- commentary
On Connected Components of Skew Group Algebras.
- Published in:
- Acta Mathematica Sinica, 2023, v. 39, n. 5, p. 799, doi. 10.1007/s10114-022-1237-9
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- Publication type:
- Article
On Tubular Tilting Objects in the Stable Category of Vector Bundles.
- Published in:
- Acta Mathematica Sinica, 2019, v. 35, n. 4, p. 494, doi. 10.1007/s10114-018-8187-2
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- Publication type:
- Article
Concurrent mutations in six amino acids in {beta}-glucuronidase improve its thermostability.
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- PEDS: Protein Engineering, Design & Selection, 2007, v. 20, n. 7, p. 319, doi. 10.1093/protein/gzm023
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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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- Publication type:
- 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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- Publication type:
- Article
Gene conversion: mechanisms, evolution and human disease.
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- Nature Reviews Genetics, 2007, v. 8, n. 10, p. 762, doi. 10.1038/nrg2193
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- Publication type:
- Article
Elucidation of the complex structure and origin of the human trypsinogen locus triplication.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3605, doi. 10.1093/hmg/ddp308
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- Publication type:
- Article
Robust design of rock slopes with multiple failure modes: modeling uncertainty of estimated parameter statistics with fuzzy number.
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- Environmental Earth Sciences, 2014, v. 72, n. 8, p. 2957, doi. 10.1007/s12665-014-3201-1
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- Publication type:
- Article
The preparation and application of N-terminal 57 amino acid protein of the follicle-stimulating hormone receptor as a candidate male contraceptive vaccine.
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- Asian Journal of Andrology, 2014, v. 16, n. 4, p. 623, doi. 10.4103/1008-682X.125910
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- Publication type:
- Article
Discovery, phylogeny and expression patterns of AP2-like genes in maize.
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- Plant Growth Regulation, 2010, v. 62, n. 1, p. 51, doi. 10.1007/s10725-010-9484-7
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- Publication type:
- Article
Association study of CREB1 gene with depression and bipolar disorder type II.
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- Journal of Shanghai Jiaotong University (Medical Science), 2021, v. 41, n. 10, p. 1303, doi. 10.3969/j.issn.1674-8115.2021.10.005
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- Publication type:
- Article
Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large.
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- Genes, 2021, v. 12, n. 11, p. 1683, doi. 10.3390/genes12111683
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- Publication type:
- Article
Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.
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- Genes, 2021, v. 12, n. 5, p. 710, doi. 10.3390/genes12050710
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- Publication type:
- Article
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.
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- Genes, 2021, v. 12, n. 4, p. 471, doi. 10.3390/genes12040471
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- Publication type:
- Article
Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1349, doi. 10.3390/genes11111349
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- Publication type:
- Article
Identifying the Risk of SARS-CoV-2 Infection and Environmental Monitoring in Airborne Infectious Isolation Rooms (AIIRs).
- Published in:
- Virologica Sinica (16740769), 2020, v. 35, n. 6, p. 785, doi. 10.1007/s12250-020-00301-7
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- Publication type:
- Article
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 277, doi. 10.1038/ejhg.2011.186
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- Publication type:
- Article
Assessing the pathological relevance of SPINK1 promoter variants.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1066, doi. 10.1038/ejhg.2011.79
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- Publication type:
- Article
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 936, doi. 10.1038/sj.ejhg.5201873
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- Publication type:
- Article
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1204, doi. 10.1038/sj.ejhg.5201684
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- Publication type:
- Article
'Gain of function' PRSS1 mutations are rare in ICP.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 108, doi. 10.1038/sj.ejhg.5200945
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- Publication type:
- Article
Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic...
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 2, p. 100
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- Publication type:
- Article
Molecular basis of hereditary pancreatitis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 473, doi. 10.1038/sj.ejhg.5200492
- By:
- Publication type:
- Article
Influence of High-Frequency Repetitive Transcranial Magnetic Stimulation on Neurobehavioral and Electrophysiology in Patients with Disorders of Consciousness.
- Published in:
- Neural Plasticity, 2022, p. 1, doi. 10.1155/2022/7195699
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- Publication type:
- Article
Quantitative and Fiber-Selective Evaluation for Central Poststroke Pain.
- Published in:
- Neural Plasticity, 2022, p. 1, doi. 10.1155/2022/1507291
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- Publication type:
- Article
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
- Published in:
- Transfusion, 2021, v. 61, n. 8, p. 2468, doi. 10.1111/trf.16538
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- Publication type:
- Article
A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes.
- Published in:
- 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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- Publication type:
- Article