コーパス検索結果 (１語後でソート)
通し番号をクリックするとPubMedの該当ページを表示します
1 a likely mechanism for the underlying lobar holoprosencephaly.
2 palate, characteristics of the mild forms of holoprosencephaly.
3 aberrant Sonic hedgehog signaling, including holoprosencephaly.
4 dum and, in rare patients, atypical forms of holoprosencephaly.
5 fective mutants, such as those causing human holoprosencephaly.
6 into two cerebral hemispheres, resulting in holoprosencephaly.
7 scus and cerebellar peduncles can be seen in holoprosencephaly.
8 early embryonic defects in humans, including holoprosencephaly.
9 omaly of the developing forebrain in humans, holoprosencephaly.
10 n associated with the developmental disorder holoprosencephaly.
11 , when disrupted by mutations in TGIF, cause holoprosencephaly.
12 dgehog (Hh) signaling in the pathogenesis of holoprosencephaly.
13 up of complex midline malformations known as holoprosencephaly.
14 genetic model for the common human disorder holoprosencephaly.
15 of the basal telencephalon that resulted in holoprosencephaly (a single cerebral hemisphere), cyclop
16 Mutations in human TGIF are associated with holoprosencephaly, a severe defect of craniofacial devel
18 loinsufficiency for SHH in humans results in holoprosencephaly, a syndrome characterized by facial an
19 tter appreciation of the variability seen in holoprosencephaly, an anomaly known to have multiple eti
20 Mutations in vertebrate Hh proteins causing holoprosencephaly and brachydactyly type A1 map to this
22 s conditionally lacking Tgif1 and Tgif2 have holoprosencephaly and defects in left-right asymmetry.
27 rodevelopmental outcome, as do subjects with holoprosencephaly and patients with VACTERL features.
29 mice show defects in forebrain development (holoprosencephaly) and failure of eye development (anoph
32 The variable phenotypes include cyclopia, holoprosencephaly, and rostral truncations of the brain
33 ion of the forebrain and its perturbation in holoprosencephaly; and the third is the role played by t
35 Mutations in human TGIF1 are associated with holoprosencephaly, but it is unclear whether this is a r
36 matter tract abnormalities in patients with holoprosencephaly can be achieved by performing diffusio
37 Furthermore, recent evidence suggests that holoprosencephaly can be associated with delays or abnor
38 brain defects including rostral truncations, holoprosencephaly, cyclopia, as well as alterations in t
39 /- compound mutants die at birth and display holoprosencephaly, first branchial arch and eye defects.
41 s, failure to close the cranial neural tube, holoprosencephaly, heart edema and extensive hemorrhages
60 the developing telencephalon and the common holoprosencephaly (HPE) malformation have been uncertain
61 ome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodactly, which frequent
64 In humans, SHH haploinsufficiency results in holoprosencephaly (HPE), a defect in anterior midline fo
65 hic mutations in human and mouse can promote holoprosencephaly (HPE), a forebrain malformation that r
68 idline development is perturbed resulting in holoprosencephaly (HPE), a structural malformation of th
69 a defect of forebrain development, known as Holoprosencephaly (HPE), in humans and mouse, yet the me
70 lt in the severe brain malformation known as holoprosencephaly (HPE), indicating that forebrain devel
76 the most common forebrain defect in humans, holoprosencephaly (HPE), which includes cyclopia, a phen
77 ons of TGIF have been found in patients with holoprosencephaly (HPE), which is the most common congen
84 for forebrain formation and associated with holoprosencephaly in humans, regulates diencephalic Noda
86 , resulting in a characteristic phenotype of holoprosencephaly in the few embryos that survived to la
87 ining patients except one, who had semilobar holoprosencephaly in which the CPSTs could not be identi
88 previously associated with the induction of holoprosencephaly in whole animals are also associated w
89 f the effects of cyclopamine to those of the holoprosencephaly-inducing cholesterol synthesis inhibit
92 white matter abnormalities in children with holoprosencephaly is only beginning to be understood.
93 g leads to multiple birth defects, including holoprosencephaly, neural tube defects and polydactyly,
97 clude septo-optic dysplasia, schizencephaly, holoprosencephaly, periventricular heterotopia, lissence
98 s, including Bmp4 and Msx1, correlate with a holoprosencephaly phenotype and with the nonlinear expre
101 he human TGIF gene have been associated with holoprosencephaly, the most common congenital malformati
102 red in a Sonic Hedgehog mutant causing human holoprosencephaly, the most frequent congenital brain ma
103 ranging from developmental disorders such as holoprosencephaly to certain forms of cancer, including
104 on of head structures-including cyclopia and holoprosencephaly-to expansion of ventral tissues in MO-
105 eduncle (MCP) dimensions was correlated with holoprosencephaly type and neurodevelopmental score by u
109 l alkaloid cyclopamine produces cyclopia and holoprosencephaly when administered to gastrulation-stag
110 ary incisors, probably resulting from a mild holoprosencephaly, whereas Gli3 mutants had no major too
111 acking CDO on the C57BL/6 background display holoprosencephaly with approximately 80% penetrance, res
WebLSDに未収録の専門用語（用法）は "新規対訳" から投稿できます。