Found: 19
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Understanding the Underlying Pathological Mechanism of Mutations Located in 3′ Splice Sites and Adjacent Exonic Regions.
- Published in:
- 2011
- By:
- Publication type:
- Other
Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 127, doi. 10.1002/humu.21401
- By:
- Publication type:
- Article
Novel genomic techniques open new avenues in the analysis of monogenic disorders.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 144, doi. 10.1002/humu.21400
- By:
- Publication type:
- Article
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 152, doi. 10.1002/humu.21361
- By:
- Publication type:
- Article
Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 168, doi. 10.1002/humu.21394
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- Publication type:
- Article
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 183, doi. 10.1002/humu.21402
- By:
- Publication type:
- Article
Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 191, doi. 10.1002/humu.21405
- By:
- Publication type:
- Article
Meiotic recombination favors the spreading of deleterious mutations in human populations.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 198, doi. 10.1002/humu.21407
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- Publication type:
- Article
Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 207, doi. 10.1002/humu.21408
- By:
- Publication type:
- Article
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 213, doi. 10.1002/humu.21418
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- Publication type:
- Article
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 220, doi. 10.1002/humu.21419
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- Publication type:
- Article
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 231, doi. 10.1002/humu.21413
- By:
- Publication type:
- Article
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 240, doi. 10.1002/humu.21398
- By:
- Publication type:
- Article
Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 249, doi. 10.1002/humu.21403
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- Publication type:
- Article
Searching for the missing heritability of complex diseases.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 259, doi. 10.1002/humu.21392
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- Publication type:
- Article
Massive parallel DNA pyrosequencing analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. E1999, doi. 10.1002/humu.21415
- By:
- Publication type:
- Article
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. E2018, doi. 10.1002/humu.21416
- By:
- Publication type:
- Article
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. E2026, doi. 10.1002/humu.21422
- By:
- Publication type:
- Article
Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. E2036, doi. 10.1002/humu.21423
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- Publication type:
- Article