Found: 11
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Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Recent advances in understanding inheritance of holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 258, doi. 10.1002/ajmg.c.31619
- By:
- Publication type:
- Article
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 12, p. 1, doi. 10.1371/journal.pgen.1007137
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- Publication type:
- Article
Sororin pre- mRNA splicing is required for proper sister chromatid cohesion in human cells.
- Published in:
- EMBO Reports, 2014, v. 15, n. 9, p. 948, doi. 10.15252/embr.201438640
- By:
- Publication type:
- Article
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 4, p. 363, doi. 10.1007/s00439-019-01993-y
- By:
- Publication type:
- Article
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 307, doi. 10.1007/s00439-017-1758-y
- By:
- Publication type:
- Article
The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells.
- Published in:
- EMBO Journal, 2009, v. 28, n. 17, p. 2625, doi. 10.1038/emboj.2009.202
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- Publication type:
- Article
Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
- Published in:
- Nature, 2012, v. 489, n. 7415, p. 313, doi. 10.1038/nature11316
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- Publication type:
- Article
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics.
- Published in:
- Human Mutation, 2015, v. 36, n. 2, p. 279, doi. 10.1002/humu.22755
- By:
- Publication type:
- Article
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 26, doi. 10.1002/humu.22685
- By:
- Publication type:
- Article