Found: 24
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Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37110-x
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- Article
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 9, p. e67, doi. 10.1093/nar/gkp215
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- Article
Heterozygous TGFBR2 mutations in Marfan syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 8, p. 855, doi. 10.1038/ng1392
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- Article
New Topoisomerase I mutations are associated with resistance to camptothecin.
- Published in:
- Molecular Cancer, 2011, v. 10, n. 1, p. 64, doi. 10.1186/1476-4598-10-64
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- Article
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1121, doi. 10.1038/ejhg.2009.36
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- Article
Marfan syndrome in the third Millennium.
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- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 673, doi. 10.1038/sj.ejhg.5200876
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- Article
Marfan Database (third edition): new mutations and new routines for the software.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 1, p. 231
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- Publication type:
- Article
Software and database for the analysis of mutations in the human LDL receptor gene.
- Published in:
- Nucleic Acids Research, 1997, v. 25, n. 1, p. 172, doi. 10.1093/nar/25.1.172
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- Publication type:
- Article
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
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- Nucleic Acids Research, 1997, v. 25, n. 1, p. 147, doi. 10.1093/nar/25.1.147
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- Publication type:
- Article
Actionable Genes, Core Databases, and Locus-Specific Databases.
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- Human Mutation, 2016, v. 37, n. 12, p. 1299, doi. 10.1002/humu.23112
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- Article
BRCA Share: A Collection of Clinical BRCA Gene Variants.
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- Human Mutation, 2016, v. 37, n. 12, p. 1318, doi. 10.1002/humu.23113
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- Publication type:
- Article
WES/WGS Reporting of Mutations from Cardiovascular 'Actionable' Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
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- Human Mutation, 2016, v. 37, n. 12, p. 1308, doi. 10.1002/humu.23119
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- Article
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.
- Published in:
- Human Mutation, 2016, v. 37, n. 5, p. 439, doi. 10.1002/humu.22965
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- Publication type:
- Article
DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene.
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- Human Mutation, 2011, v. 32, n. 11, p. 1213, doi. 10.1002/humu.21564
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- Article
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
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- Human Mutation, 2010, v. 31, n. 1, p. E1021, doi. 10.1002/humu.21131
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- Article
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.
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- 2009
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- Publication type:
- Other
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
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- 2009
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- Publication type:
- Other
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. E284, doi. 10.1002/humu.20871
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- Publication type:
- Article
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD- TGFBR2.
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- 2008
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- Publication type:
- Other
UMD (Universal Mutation Database): 2005 update.
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- Human Mutation, 2005, v. 26, n. 3, p. 184, doi. 10.1002/humu.20210
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- Article
The p.Asp216His TOR1A allele effect is not found in the French population.
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- Movement Disorders, 2009, v. 24, n. 6, p. 919, doi. 10.1002/mds.22407
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- Article
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database (Communicated by Mark H. Paalman) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 199
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- Article
Update of the UMD?FBN1 mutation database and creation of an FBN1 polymorphism databaseCommunicated by Mark H. PaalmanThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 199
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- Publication type:
- Article
UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases.
- Published in:
- Human Mutation, 2000, v. 15, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4
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- Publication type:
- Article