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Paternal contribution of HLA-G*0106 significantly increases risk for pre-eclampsia in multigravid pregnancies.
- Published in:
- Molecular Human Reproduction, 2008, v. 14, n. 5, p. 317, doi. 10.1093/molehr/gan013
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- Publication type:
- Article
Identification of novel microsatellite markers <1 Mb from the HBB gene and development of a single-tube pentadecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of beta-thalassemia.
- Published in:
- Electrophoresis, 2015, v. 36, n. 23, p. 2914, doi. 10.1002/elps.201500146
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- Publication type:
- Article
Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling.
- Published in:
- 2024
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- Publication type:
- Case Study
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 784, doi. 10.1002/ajmg.a.35257
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- Publication type:
- Article
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
- Published in:
- 2006
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- Publication type:
- Letter
Robust Performance of Potentially Functional SNPs in Machine Learning Models for the Prediction of Atorvastatin-Induced Myalgia.
- Published in:
- Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2021.605764
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- Publication type:
- Article
The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.
- Published in:
- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 1, p. 96, doi. 10.1597/11-132
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- Publication type:
- Article
Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111694
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- Publication type:
- Article
Joint Testing of Genotypic and Gene-Environment Interaction Identified Novel Association for BMP4 with Non-Syndromic CL/P in an Asian Population Using Data from an International Cleft Consortium.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109038
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- Publication type:
- Article
Evidence of Gene−Environment Interaction for Two Genes on Chromosome 4 and Environmental Tobacco Smoke in Controlling the Risk of Nonsyndromic Cleft Palate.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0088088
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- Publication type:
- Article
BMP4 Was Associated with NSCL/P in an Asian Population.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035347
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- Publication type:
- Article
Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay.
- Published in:
- Neurodegenerative Diseases, 2016, v. 16, n. 5/6, p. 348, doi. 10.1159/000444714
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- Publication type:
- Article
Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family.
- Published in:
- Development Genes & Evolution, 2009, v. 219, n. 6, p. 289, doi. 10.1007/s00427-009-0290-z
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- Publication type:
- Article
Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors.
- Published in:
- Development Genes & Evolution, 2007, v. 217, n. 11/12, p. 783, doi. 10.1007/s00427-007-0187-7
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- Publication type:
- Article
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.
- Published in:
- Human Genetics, 2009, v. 126, n. 3, p. 385, doi. 10.1007/s00439-009-0680-3
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- Publication type:
- Article
Dinucleotide repeats negatively modulate the promoter activity of Cyr61 and is unstable in hepatocellular carcinoma patients.
- Published in:
- Oncogene, 2005, v. 24, n. 24, p. 3999, doi. 10.1038/sj.onc.1208550
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- Publication type:
- Article
Machine Learning Identifies a Signature of Nine Exosomal RNAs That Predicts Hepatocellular Carcinoma.
- Published in:
- Cancers, 2023, v. 15, n. 14, p. 3749, doi. 10.3390/cancers15143749
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- Publication type:
- Article
Clinicopathological-Associated Regulatory Network of Deregulated circRNAs in Hepatocellular Carcinoma.
- Published in:
- Cancers, 2021, v. 13, n. 11, p. 2772, doi. 10.3390/cancers13112772
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- Publication type:
- Article
Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1436, doi. 10.1038/ejhg.2013.25
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- Publication type:
- Article
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 726, doi. 10.1038/ejhg.2009.228
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- Publication type:
- Article
Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 831, doi. 10.1038/ejhg.2008.250
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- Publication type:
- Article
Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.
- Published in:
- BMC Genomics, 2006, v. 7, p. 1, doi. 10.1186/1471-2164-7-111
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- Publication type:
- Article
FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India.
- Published in:
- Advanced Genetics, 2021, v. 2, n. 2, p. 1, doi. 10.1002/ggn2.10048
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- Publication type:
- Article
Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52769-3
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- Publication type:
- Article
Circulating microRNAs as Potential Diagnostic and Prognostic Biomarkers in Hepatocellular Carcinoma.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-46872-8
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- Publication type:
- Article
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44588-3
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- Publication type:
- Article
Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01105
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- Publication type:
- Article
Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00589
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- Publication type:
- Article
Evidence of differential selection for the −α<sup>3.7</sup> and −α<sup>4.2</sup> single-α-globin gene deletions within the same population.
- Published in:
- European Journal of Haematology, 2013, v. 90, n. 3, p. 210, doi. 10.1111/ejh.12058
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- Publication type:
- Article
FMR1 CGG Repeat Patterns and Flanking Haplotypes in Three Asian Populations and Their Relationship With Repeat Instability.
- Published in:
- Annals of Human Genetics, 2006, v. 70, n. 6, p. 784, doi. 10.1111/j.1469-1809.2006.00265.x
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- Publication type:
- Article
Architecture of population-differentiated polymorphisms in the human genome.
- Published in:
- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0224089
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- Publication type:
- Article
Possible Gene-Gene Interaction of KIR2DL4 With its Cognate Ligand HLA-G in Modulating Risk for Preeclampsia.
- Published in:
- Reproductive Sciences, 2009, v. 16, n. 12, p. 1135, doi. 10.1177/1933719109342280
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- Publication type:
- Article
Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 8, p. 881, doi. 10.1093/clinchem/hvad062
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- Publication type:
- Article
Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 6, p. 794, doi. 10.1093/clinchem/hvac011
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- Publication type:
- Article
A Novel Indel in the Alpha Globin 2 (HBA2) Gene Resulting in False Positive -α<sup>3.7</sup> on Multiplex gap-PCR Assay.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 9, p. 1284, doi. 10.1093/clinchem/hvab113
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- Publication type:
- Article
Single-Tube Dodecaplex PCR Panel of Polymorphic Microsatellite Markers Closely Linked to the DMPK CTG Repeat for Preimplantation Genetic Diagnosis of Myotonic Dystrophy Type 1.
- Published in:
- Clinical Chemistry, 2017, v. 63, n. 6, p. 1127, doi. 10.1373/clinchem.2017.271528
- By:
- Publication type:
- Article
Identification of Novel Microsatellite Markers <1 Mb from the HTT CAG Repeat and Development of a Single-Tube Tridecaplex PCR Panel of Highly Polymorphic Markers for Preimplantation Genetic Diagnosis of Huntington Disease.
- Published in:
- Clinical Chemistry, 2016, v. 62, n. 8, p. 1096, doi. 10.1373/clinchem.2016.255711
- By:
- Publication type:
- Article
Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis as a Rapid Screening Tool for Identifying Actionable FMR1 Genotypes.
- Published in:
- Clinical Chemistry, 2013, v. 59, n. 11, p. 1668, doi. 10.1373/clinchem.2013.206771
- By:
- Publication type:
- Article
Screening for CGG Repeat Expansion in the FMR1 Gene by Melting Curve Analysis of Combined 5' and 3' Direct Triplet-Primed PCRs.
- Published in:
- Clinical Chemistry, 2012, v. 58, n. 3, p. 568, doi. 10.1373/clinchem.2011.174615
- By:
- Publication type:
- Article
Machine learning using genetic and clinical data identifies a signature that robustly predicts methotrexate response in rheumatoid arthritis.
- Published in:
- Rheumatology, 2022, v. 61, n. 10, p. 4175, doi. 10.1093/rheumatology/keac032
- By:
- Publication type:
- Article
Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A using a highly polymorphic multi-marker panel encompassing the paracentric inversion.
- Published in:
- Thrombosis Journal, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12959-023-00552-w
- By:
- Publication type:
- Article
Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.
- Published in:
- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0175-1
- By:
- Publication type:
- Article
Germline transgenesis of zebrafish using the medaka Tol1 transposon system.
- Published in:
- Developmental Dynamics, 2008, v. 237, n. 9, p. 2466, doi. 10.1002/dvdy.21688
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- Publication type:
- Article
Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgf3).
- Published in:
- Developmental Dynamics, 2005, v. 232, n. 4, p. 1021
- By:
- Publication type:
- Article
Simplified PGD of common determinants of haemoglobin Bart's hydrops fetalis syndrome using multiplex-microsatellite PCR.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 21, n. 5, p. 642, doi. 10.1016/j.rbmo.2010.06.021
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- Publication type:
- Article
Network of clinically-relevant lncRNAs-mRNAs associated with prognosis of hepatocellular carcinoma patients.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67742-8
- By:
- Publication type:
- Article
A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00582
- By:
- Publication type:
- Article
Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145537
- By:
- Publication type:
- Article
Rapid and reliable preimplantation genetic diagnosis of common hemoglobin Bart's hydrops fetalis syndrome and hemoglobin H disease determinants using an enhanced single-tube decaplex polymerase chain reaction assay.
- Published in:
- American Journal of Hematology, 2015, v. 90, n. 9, p. E194, doi. 10.1002/ajh.24077
- By:
- Publication type:
- Article
The −−<sup>THAI</sup> and −−<sup>FIL</sup> determinants of α thalassemia in Taiwan.
- Published in:
- American Journal of Hematology, 1999, v. 60, n. 1, p. 80, doi. 10.1002/(SICI)1096-8652(199901)60:1<80::AID-AJH17>3.0.CO;2-W
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- Publication type:
- Article