Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
about
Six3 regulates optic nerve development via multiple mechanisms.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.Renal agenesis in Kallmann syndrome: a network approach.Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.Silencing of TGIF1 in bone mesenchymal stem cells applied to the post-operative rotator cuff improves both functional and histologic outcomes.
P2860
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P2860
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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2012年论文
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2012年论文
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name
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
@ast
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
@en
type
label
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
@ast
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
@en
prefLabel
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
@ast
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
@en
P2093
P2860
P50
P356
P1476
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome
@en
P2093
E-M Laitinen
K Vaaralahti
P2860
P356
10.1159/000338706
P577
2012-05-16T00:00:00Z