Mutational Analysis of Sonic Hedgehog Gene in Human Fetuses with Holoprosencephaly |
Yoon, Sung-Hee
(Department of Biological Sciences and Bio/Molecular Informatics Center, Konkuk University)
Kim, Kyu-Rae (Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center) Shim, Yhong-Hee (Department of Biological Sciences and Bio/Molecular Informatics Center, Konkuk University) |
1 |
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
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DOI ScienceOn |
2 |
Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations
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DOI |
3 |
Single-strand conformational polymorphism
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DOI |
4 |
Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain
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DOI ScienceOn |
5 |
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
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DOI ScienceOn |
6 |
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
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DOI ScienceOn |
7 |
Holoprosencephaly: Defect of the mediobasal prosencephalon. Congenital malformations of the brain: pathological, embryological, clinical, radiological and genetic aspects
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8 |
The Drosophila patched gene encodes a putative membrane protein required for segmental patterning
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DOI ScienceOn |
9 |
Dual roles for patched in sequestering and transducing Hedgehog
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DOI ScienceOn |
10 |
Mutations in TGIF cause holoprosencephaly and link NODAL signaling to human neural axis determination
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DOI ScienceOn |
11 |
Excess PCR primers may dramatically affect SSCP efficiency
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DOI ScienceOn |
12 |
Floor plate and motor neuron induction by vhh-1, a vertebrate homolog of hedgehog expressed by the notochord
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DOI ScienceOn |
13 |
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
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DOI ScienceOn |
14 |
Mouse models of holoprosencephaly
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DOI ScienceOn |
15 |
PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA
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DOI |
16 |
PCR-SSCP: a method for detection of mutations
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DOI |
17 |
Non-radioactive multiplex-SSCP ansysis: detection of a new type II procollagen gene (COL2A1) mutation
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18 |
Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity
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DOI ScienceOn |
19 |
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity
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20 |
Holoprosencephaly;The metabolic and molecular basis of inherited disease
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21 |
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
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DOI ScienceOn |
22 |
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations
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DOI ScienceOn |
23 |
The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal
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DOI ScienceOn |
24 |
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
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DOI |
25 |
Molecular mechanisms of holoprosencephaly
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DOI ScienceOn |