Physical mapping of the holoprosencephaly critical region in 18p11.3
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Monosomy 18pHuman CPR (cell cycle progression restoration) genes impart a Far- phenotype on yeast cells.Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndromeFunctional analysis of mutations in TGIF associated with holoprosencephaly.The Tgif2 gene contains a retained intron within the coding sequence.Embryonic fibroblasts from mice lacking Tgif were defective in cell cyclingDrosophila TGIF proteins are transcriptional activators.Otitis media in the Tgif knockout mouse implicates TGFβ signalling in chronic middle ear inflammatory disease.Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.Dissecting the genetics of human high myopia: a molecular biologic approachThe molecular genetics of holoprosencephaly.Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.BmTGIF, a Bombyx mori homolog of Drosophila DmTGIF, regulates progression of spermatogenesis.Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.Telomeres: a diagnosis at the end of the chromosomesTGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and PhenotypeNeural tube expression of pituitary adenylate cyclase-activating peptide (PACAP) and receptor: potential role in patterning and neurogenesis.Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly
P2860
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P2860
Physical mapping of the holoprosencephaly critical region in 18p11.3
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1995 nî lūn-bûn
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1995 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի նոյեմբերին հրատարակված գիտական հոդված
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1995年の論文
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1995年論文
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1995年論文
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1995年論文
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1995年論文
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1995年論文
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1995年论文
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name
Physical mapping of the holoprosencephaly critical region in 18p11.3
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Physical mapping of the holoprosencephaly critical region in 18p11.3
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Physical mapping of the holoprosencephaly critical region in 18p11.3
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type
label
Physical mapping of the holoprosencephaly critical region in 18p11.3
@ast
Physical mapping of the holoprosencephaly critical region in 18p11.3
@en
Physical mapping of the holoprosencephaly critical region in 18p11.3
@nl
prefLabel
Physical mapping of the holoprosencephaly critical region in 18p11.3
@ast
Physical mapping of the holoprosencephaly critical region in 18p11.3
@en
Physical mapping of the holoprosencephaly critical region in 18p11.3
@nl
P2093
P2860
P4510
P1476
Physical mapping of the holoprosencephaly critical region in 18p11.3.
@en
P2093
P2860
P304
P407
P577
1995-11-01T00:00:00Z