Functional analysis of mutations in TGIF associated with holoprosencephaly.
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Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation.Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning.Tgif1 and Tgif2 Regulate Axial Patterning in Mouse.Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsThe molecular genetics of holoprosencephaly.Holoprosencephaly due to numeric chromosome abnormalities.Analysis of genotype-phenotype correlations in human holoprosencephaly.New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and PhenotypeUtilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactionsThe mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Molecular analysis of holoprosencephaly in South America.Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T's. Look at the hands.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Homeobox gene transforming growth factor β-induced factor-1 (TGIF-1) is a regulator of villous trophoblast differentiation and its expression is increased in human idiopathic fetal growth restriction.Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism.Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly
P2860
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P2860
Functional analysis of mutations in TGIF associated with holoprosencephaly.
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2006 nî lūn-bûn
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2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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Functional analysis of mutations in TGIF associated with holoprosencephaly
@nl
Functional analysis of mutations in TGIF associated with holoprosencephaly.
@ast
Functional analysis of mutations in TGIF associated with holoprosencephaly.
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label
Functional analysis of mutations in TGIF associated with holoprosencephaly
@nl
Functional analysis of mutations in TGIF associated with holoprosencephaly.
@ast
Functional analysis of mutations in TGIF associated with holoprosencephaly.
@en
prefLabel
Functional analysis of mutations in TGIF associated with holoprosencephaly
@nl
Functional analysis of mutations in TGIF associated with holoprosencephaly.
@ast
Functional analysis of mutations in TGIF associated with holoprosencephaly.
@en
P2093
P2860
P3181
P1476
Functional analysis of mutations in TGIF associated with holoprosencephaly.
@en
P2093
David Wotton
Erich Roessler
Felicitas Lacbawan
Ieda M Orioli
Kenia B El-Jaick
Kenneth R Myers
Laurent Bartholin
Maia Ouspenskaia
Maximilian Muenke
P2860
P304
P3181
P356
10.1016/J.YMGME.2006.07.011
P407
P577
2006-09-07T00:00:00Z