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1 , when disrupted by mutations in TGIF, cause holoprosencephaly.
2 up of complex midline malformations known as holoprosencephaly.
3 genetic model for the common human disorder holoprosencephaly.
4 lopment and X-linked inheritance patterns in holoprosencephaly.
5 palate, characteristics of the mild forms of holoprosencephaly.
6 genetic syndrome of pancreatic agenesis and holoprosencephaly.
7 part of a spectrum disorder that can include holoprosencephaly.
8 a likely mechanism for the underlying lobar holoprosencephaly.
9 dgehog (Hh) signaling in the pathogenesis of holoprosencephaly.
10 aberrant Sonic hedgehog signaling, including holoprosencephaly.
11 dum and, in rare patients, atypical forms of holoprosencephaly.
12 fective mutants, such as those causing human holoprosencephaly.
13 t as illustrated by a human condition called holoprosencephaly.
14 into two cerebral hemispheres, resulting in holoprosencephaly.
15 scus and cerebellar peduncles can be seen in holoprosencephaly.
16 early embryonic defects in humans, including holoprosencephaly.
17 omaly of the developing forebrain in humans, holoprosencephaly.
18 n associated with the developmental disorder holoprosencephaly.
19 of the basal telencephalon that resulted in holoprosencephaly (a single cerebral hemisphere), cyclop
20 Mutations in human TGIF are associated with holoprosencephaly, a severe defect of craniofacial devel
22 loinsufficiency for SHH in humans results in holoprosencephaly, a syndrome characterized by facial an
23 tter appreciation of the variability seen in holoprosencephaly, an anomaly known to have multiple eti
24 Mutations in vertebrate Hh proteins causing holoprosencephaly and brachydactyly type A1 map to this
26 s conditionally lacking Tgif1 and Tgif2 have holoprosencephaly and defects in left-right asymmetry.
30 ion sequencing projects for individuals with holoprosencephaly and individuals with disorders of sex
32 rodevelopmental outcome, as do subjects with holoprosencephaly and patients with VACTERL features.
34 mice show defects in forebrain development (holoprosencephaly) and failure of eye development (anoph
37 The variable phenotypes include cyclopia, holoprosencephaly, and rostral truncations of the brain
38 ion of the forebrain and its perturbation in holoprosencephaly; and the third is the role played by t
42 Mutations in human TGIF1 are associated with holoprosencephaly, but it is unclear whether this is a r
43 matter tract abnormalities in patients with holoprosencephaly can be achieved by performing diffusio
44 Furthermore, recent evidence suggests that holoprosencephaly can be associated with delays or abnor
46 brain defects including rostral truncations, holoprosencephaly, cyclopia, as well as alterations in t
48 /- compound mutants die at birth and display holoprosencephaly, first branchial arch and eye defects.
50 s, failure to close the cranial neural tube, holoprosencephaly, heart edema and extensive hemorrhages
51 onmental etiologies have been determined for holoprosencephaly; however, a genetic etiology is not fo
70 the developing telencephalon and the common holoprosencephaly (HPE) malformation have been uncertain
71 ome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodactly, which frequent
74 In humans, SHH haploinsufficiency results in holoprosencephaly (HPE), a defect in anterior midline fo
76 hic mutations in human and mouse can promote holoprosencephaly (HPE), a forebrain malformation that r
78 naling is linked to birth defects, including holoprosencephaly (HPE), a malformation of the forebrain
80 idline development is perturbed resulting in holoprosencephaly (HPE), a structural malformation of th
81 a defect of forebrain development, known as Holoprosencephaly (HPE), in humans and mouse, yet the me
82 lt in the severe brain malformation known as holoprosencephaly (HPE), indicating that forebrain devel
88 the most common forebrain defect in humans, holoprosencephaly (HPE), which includes cyclopia, a phen
89 ons of TGIF have been found in patients with holoprosencephaly (HPE), which is the most common congen
98 for forebrain formation and associated with holoprosencephaly in humans, regulates diencephalic Noda
100 , resulting in a characteristic phenotype of holoprosencephaly in the few embryos that survived to la
101 ining patients except one, who had semilobar holoprosencephaly in which the CPSTs could not be identi
102 previously associated with the induction of holoprosencephaly in whole animals are also associated w
103 iven research, 80-90% of aneuploidy-negative holoprosencephaly individuals with a probable genetic ae
104 f the effects of cyclopamine to those of the holoprosencephaly-inducing cholesterol synthesis inhibit
107 omplete division of the embryonic forebrain, holoprosencephaly is one of the most common human develo
108 white matter abnormalities in children with holoprosencephaly is only beginning to be understood.
110 g leads to multiple birth defects, including holoprosencephaly, neural tube defects and polydactyly,
116 clude septo-optic dysplasia, schizencephaly, holoprosencephaly, periventricular heterotopia, lissence
117 s, including Bmp4 and Msx1, correlate with a holoprosencephaly phenotype and with the nonlinear expre
118 n of either Gas1 or Cdon results in variable holoprosencephaly phenotypes in mice, even on a congenic
121 he human TGIF gene have been associated with holoprosencephaly, the most common congenital malformati
122 red in a Sonic Hedgehog mutant causing human holoprosencephaly, the most frequent congenital brain ma
123 re fundamental for the prenatal diagnosis of holoprosencephaly; the diagnostic process usually starts
124 ranging from developmental disorders such as holoprosencephaly to certain forms of cancer, including
125 on of head structures-including cyclopia and holoprosencephaly-to expansion of ventral tissues in MO-
126 eduncle (MCP) dimensions was correlated with holoprosencephaly type and neurodevelopmental score by u
130 l alkaloid cyclopamine produces cyclopia and holoprosencephaly when administered to gastrulation-stag
131 ary incisors, probably resulting from a mild holoprosencephaly, whereas Gli3 mutants had no major too
132 ent two unrelated individuals with semilobar holoprosencephaly who have the identical de novo missens
133 acking CDO on the C57BL/6 background display holoprosencephaly with approximately 80% penetrance, res