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1 ovement is possible despite total cerebellar agenesis'.
2 ng of the genetic etiology of familial tooth agenesis.
3 nd Slit2 upregulation, resulting in callosal agenesis.
4 the most common cause of isolated pancreatic agenesis.
5 n factor 1a) in ten families with pancreatic agenesis.
6 with blind hemivagina and ipsilateral renal agenesis.
7 nopus foregut resulted in liver and pancreas agenesis.
8 lopmental defects associated with pancreatic agenesis.
9 of both ligands in mice, resulted in kidney agenesis.
10 box transcription factor, both lead to cecal agenesis.
11 o be the most common cause of human pancreas agenesis.
12 ental disorders are associated with callosal agenesis.
13 a loss of foregut gene expression and organ agenesis.
14 ified as likely pathogenic in isolated tooth agenesis.
15 and intestine development and caused spleen agenesis.
16 6 in 15/27 (56%) individuals with pancreatic agenesis.
17 tion, as their loss of function causes liver agenesis.
18 2-O-sulfotransferase (Hs2st) leads to kidney agenesis.
19 ne gliosis, increased Slit2, and complete CC agenesis.
20 piratory system, such as lung hypoplasia and agenesis.
21 %) and 2 of 10 fetuses (20%) with unilateral agenesis.
22 phenotype correlation between PAX9 and tooth agenesis.
23 d in Fgf10 knockout mice, which exhibit lung agenesis.
24 mesenchyme is inhibited, resulting in renal agenesis.
25 piratory tract abnormalities, including lung agenesis.
26 function of the PAX9 protein underlies tooth agenesis.
27 68%, while survival was 54% in patients with agenesis.
28 duals with both orofacial clefting and tooth agenesis.
29 tations are also causal for hereditary tooth agenesis.
30 y shaped, or ectopic, otoconia, or otoconial agenesis.
31 n permanent diabetes mellitus and cerebellar agenesis.
32 AX9, and TGFA play a role in isolated dental agenesis.
33 a of the basement membrane and also in renal agenesis.
34 is may be the best models for isolated tooth agenesis.
35 d in more severe cases, exhibited unilateral agenesis.
36 ing a significant number of patients with LG agenesis.
37 f the 219InsG mutation and its role in tooth agenesis.
38 th defects that resemble human sacral/caudal agenesis.
39 ra mater, consequently resulting in calvaria agenesis.
40 ses, including apoptosis and dopamine neuron agenesis.
41 le for a specific pattern of inherited tooth agenesis.
42 a large family with autosomal-dominant tooth agenesis.
43 three families with autosomal-dominant tooth agenesis.
44 tations are associated with human pancreatic agenesis.
45 have been identified in patients with tooth agenesis.
46 hinese families with nonsyndromic (NS) tooth agenesis.
47 l coccygeal segments to complete lumbosacral agenesis.
48 re a rare cause of pancreatic and cerebellar agenesis.
49 4 additionally revealed homolateral vaginal agenesis.
50 obstructed hemivagina and ipsilateral renal agenesis.
51 ongitudinal vaginal septum and lower vaginal agenesis.
52 ntrols, especially in patients with complete agenesis.
53 assification 1.2) with associated left renal agenesis.
54 in 2 families with suspected syndromic tooth agenesis.
55 cortical abnormalities, and partial callosal agenesis.
56 isability and frequently displaying callosal agenesis.
57 xhibited partial or complete corpus callosum agenesis.
58 intellectual disability, and corpus callosum agenesis.
59 es from individuals with isolated pancreatic agenesis.
60 tear production and LG volume reduction and agenesis.
61 ectasias, capillary anomalies, and capillary agenesis.
62 ngle gene mutations associated with callosal agenesis.
64 tuses that had bilateral or unilateral renal agenesis (29 subjects) or severe congenital renal dyspla
65 ized by a high prevalence of corpus callosum agenesis (32/80; 40%), and mild to severe cerebellar hyp
66 ound in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unilateral
69 l anomalies including callosal hypoplasia or agenesis, abnormal basal ganglia and cerebellar hypoplas
70 tions as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with in
75 the developing ureteric bud developed kidney agenesis and collecting duct cells had severe cytoskelet
76 Nfib-deficient animals also exhibit callosal agenesis and delayed lung maturation, indicating haploin
77 Frem1(eyes2) mice have eye defects, renal agenesis and develop retrosternal diaphragmatic hernias
78 t to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 an
79 ing Wnt2/2b expression exhibit complete lung agenesis and do not express Nkx2.1, the earliest marker
84 ne the most common cause of human pancreatic agenesis and establish a key role for the transcription
85 ects in lung maturation and exhibit callosal agenesis and forebrain defects that are similar to, but
90 and environmental) determining both callosal agenesis and its autistic features, and what are the pro
91 individuals with isolated central pair (CP) agenesis and normal body laterality, from two unrelated
93 ctural abnormalities, in particular callosal agenesis and pontine hypoplasia, delayed myelination and
95 ical and molecular association between tooth agenesis and self-reported family history of cancer.
96 h increases the spectrum of congenital tooth agenesis and suggests attenuated Wnt signaling in endoth
97 etic contributions to kidney development and agenesis and the factors influencing susceptibility to r
98 ip/palate is also associated with both tooth agenesis and the gene TGFA, we included TGFA in the anal
104 ve complete cleft secondary palate, calvaria agenesis, and other skull defects with complete phenotyp
105 atures of syndromes associated with callosal agenesis, and provides a genetic and developmental frame
107 A small proportion of RetDN/+ mice had renal agenesis, and the remainder had hypoplastic kidneys and
109 ructed Seminal Vesicle and Ipsilateral Renal Agenesis) as an acronym for Zinner syndrome analogous to
110 ion in the entire epiblast leads to pancreas agenesis associated with abnormal gut regionalization.
112 ion can be identified in families with tooth agenesis, but heterogenous or multiple genes may be resp
114 ltisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodefi
115 ion to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, a
117 y, we investigated whether the 5 known tooth-agenesis-causing MSX1 missense mutations disrupt this Pa
118 Bmp4 promoter construct, and that most tooth-agenesis-causing PAX9 mutations impair DNA binding and B
119 st-derived dental mesenchyme and cause tooth agenesis disorder when mutated in mouse and/or human.
120 ptors (NgR123-null mice) display complete CC agenesis due to axon misdirection evidenced by ectopic a
121 ta6 in the pancreas caused severe pancreatic agenesis due to disruption of pancreatic progenitor cell
123 ng bilateral cleft lip and palate and tongue agenesis, following the loss of the primary cilia in the
124 all available data on worldwide third molar agenesis frequencies, with a particular emphasis on expl
126 nd toward improved survival in patients with agenesis from 47% in the first 2 years to 59% in the las
131 ranslocation associated with bilateral renal agenesis has implicated the gene encoding the nuclear st
132 ith orofacial clefting with or without tooth agenesis have MSX1 coding mutations by screening 33 indi
133 tions in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are o
134 either factor are associated with pancreatic agenesis; however, homozygous deletion of both Gata4 and
135 eous stock-derived model of unilateral renal agenesis (HSRA) rat, which demonstrates 50%-75% spontane
136 included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease.
138 mperature indicators were observed for renal agenesis/hypoplasia (positive) and anophthalmia/micropht
139 een AXIN2, FGF3, FGF10, and FGFR2 with tooth agenesis [i.e., individuals who carried the polymorphic
141 gene were identified segregating with tooth agenesis in 2 families, suggesting oligogenic inheritanc
142 us associated with pancreatic and cerebellar agenesis in a genome-wide linkage search of a consanguin
143 hrogenesis, the demonstrated rescue of renal agenesis in a model of a human genetic disease raises th
148 y the ureteric bud, leads to bilateral renal agenesis in humans with Fraser syndrome and blebbed (Fra
149 y a few genes have been linked to pancreatic agenesis in humans, with mutations in pancreatic and duo
154 SX1 and PAX9 have been associated with tooth agenesis in mice and humans, but interestingly for human
157 ransgenes are capable of rescuing the kidney agenesis in RET-deficient mice or causing kidney hypodys
160 n contrast to complete deafness and cochlear agenesis in the C3HeB/FeJ strain, F2 Eya1(bor/bor) mutan
162 in more common cases of incisor or premolar agenesis, indicating that these have a different etiolog
166 the 1994 paper was to show that 'cerebellar agenesis is always associated with profound motor defici
170 tering a patient with lacrimal dysgenesis or agenesis is not an uncommon occurrence in an oculoplasti
174 nactivated in human patients with cerebellar agenesis, is required to segregate the cerebellum from m
175 s autism spectrum disorders, corpus callosum agenesis, Joubert syndrome, Kallmann syndrome, and horiz
176 fralpha1(TM/TM) mice display bilateral renal agenesis, lack enteric neurons in the intestines, and ha
178 ignificant progress in the genetics of tooth agenesis, many gaps in knowledge exist in refining the g
179 specific CAKUT phenotype of unilateral renal agenesis may also be mutated in humans with isolated CAK
180 Oral clefts and syndromic forms of tooth agenesis may be the best models for isolated tooth agene
182 nitive impairments in subjects with callosal agenesis may overlap with the profile of autism spectrum
185 malformations, which include isolated tooth agenesis, microdontia, short tooth roots, taurodontism,
186 ice results in cardiac malformation, adrenal agenesis, neural tube, placental defects and partially p
187 otient and autism symptomatology in callosal agenesis, nor evidence that the presence of any residual
188 branching ureteric bud (UB), and that renal agenesis occurs in homozygous Fras1 null mutant blebbed
189 t women are 14% more likely than men to have agenesis of >/=1 third molars and that maxillary agenesi
192 s Odd 1(-/-) mutant embryos exhibit complete agenesis of adrenal glands, metanephric kidneys, gonads,
193 smorphism, brain malformation (microcephaly, agenesis of corpus callosum, and simplified gyration), a
194 mations including hippocampus hypoplasia and agenesis of corpus callosum, as well as neuromuscular an
195 ation family with affected males showing ID, agenesis of corpus callosum, cerebellar hypoplasia, micr
196 oss of Lmx1a and Ngn2 expression, as well as agenesis of DA neurons in the midbrain floor plate.
198 in defects, whereas Nfic-deficient mice have agenesis of molar tooth roots and severe incisor defects
199 The phenotype is characterized by severe agenesis of multiple laminated cerebral structures affec
201 ants had shortened limbs and almost complete agenesis of the autopod because of reduced cell prolifer
202 is an autosomal recessive disorder marked by agenesis of the cerebellar vermis, ataxia, hypotonia, oc
203 this defect could arise from instability or agenesis of the ciliary central microtubules due to loss
204 anual motor coordination in individuals with agenesis of the corpus callosum (ACC) was studied using
205 and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectu
208 and speech execution in 25 participants with agenesis of the corpus callosum (AgCC) and 21 matched ne
209 t for hemispheric dominance in patients with agenesis of the corpus callosum (AgCC) and found reduced
210 ate fMRI in eight adult humans with complete agenesis of the corpus callosum (AgCC) and normal intell
211 specifically, we investigated the effect of agenesis of the corpus callosum (AgCC), one of the most
213 motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC), a neurodevel
216 previously that Nfia-deficient mice exhibit agenesis of the corpus callosum and other forebrain defe
217 ound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the cli
220 ficiency: Nova2-/- but not Nova1-/- mice had agenesis of the corpus callosum, and axonal outgrowth de
221 , spastic quadriplegia, developmental delay, agenesis of the corpus callosum, and enlargement of the
222 s severe brain malformations (lissencephaly, agenesis of the corpus callosum, and midbrain malformati
223 cluding enlarged ventricles, thinned cortex, agenesis of the corpus callosum, and significantly reduc
224 ventricles, reduced cerebral cortex, partial agenesis of the corpus callosum, and thinning of layers
225 Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmati
226 titutional DNA-mismatch repair deficiency is agenesis of the corpus callosum, the cause of which has
227 ntonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preax
231 Fgf9 null (Fgf9(-/-)) mouse embryos have agenesis of the embryonic cecum, lacking both mesenchyma
232 beta-catenin in Isl1-expressing cells caused agenesis of the hindlimb skeleton and absence of the low
238 (Dnmt1) in pancreatic progenitors results in agenesis of the pancreas due to apoptosis of progenitor
239 left-dominant liver and short pancreas with agenesis of the pancreatic tail and lateral part of the
240 vival and proliferation, and consequently in agenesis of the perineum and severe hypoplasia of the ge
241 of Esrrg on both alleles (Esrrg(-/-)) showed agenesis of the renal papilla but normal development of
242 In addition, lack of both ligands causes agenesis of the swim bladder, the structural homolog of
246 e most severe renal anomaly, bilateral renal agenesis or hypoplasia (RA/H), has limited the ability t
248 nephronectin gene frequently display kidney agenesis or hypoplasia, which can be traced to a delay i
249 diated AKT/MAPK activation resulted in renal agenesis or kidney rudiments, whereas mutation of this r
250 PTF1A mutations in patients with pancreatic agenesis or neonatal diabetes but no cerebellar phenotyp
252 Complete loss of function in mice results in agenesis or severe disruption of periocular mesenchyme s
254 that stillborn fetuses with congenital renal agenesis or severe dysplasia would possess mutations in
255 lleles and one Etv5 allele show either renal agenesis or severe hypodysplasia, whereas kidney develop
256 frameshift mutation (Pax21Neu), show either agenesis or severe malformation of the cochlea, respecti
257 tic transcription factor HLXB9 causes sacral agenesis, our results implicate pancreatic transcription
258 e often in subjects with both CL/P and tooth agenesis (p = 0.0008), while the *6C-T variant was found
262 t the mutations co-segregated with the tooth agenesis phenotype (with exception of families in which
263 e GAG chain is key as evidenced by the renal agenesis phenotype in mice deficient in the HS biosynthe
264 ng view that the defect underlying the renal agenesis phenotype is due to a primary role for 2-O sulf
265 nusual and interesting account of cerebellar agenesis published in Brain in 1994 by Glickstein, in wh
267 ggin overexpression caused colobomas, pecten agenesis, replacement of the ventral RPE by neuroepithel
270 syndrome CRASH (acronym for corpus callosum agenesis, retardation, aphasia, spastic paraplegia, hydr
271 The siblings have a pattern of severe tooth agenesis similar that in to previous reports, suggesting
274 of subepidermal hemorrhagic blisters, renal agenesis, syndactyly or polydactyly and permanent fusion
275 that a loss of Eya 1 function leads to renal agenesis that is a likely result of failure of metanephr
278 PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition
280 compared a group of 26 adults with callosal agenesis to a group of 28 adults with a diagnosis of aut
281 etes manifestations, ranging from pancreatic agenesis to adult-onset diabetes with subclinical or no
282 ng from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesi
283 esis of >/=1 third molars and that maxillary agenesis was 36% more likely than mandibular agenesis in
291 tions are a common cause of congenital tooth agenesis, we screened 92 affected individuals, represent
292 years of the study, 36% of the patients with agenesis were discharged on tube feedings and 22% on oxy
293 childhood behaviour indicated children with agenesis were less likely to meet diagnostic criteria fo
294 anscription factor PDX-1 leads to pancreatic agenesis, whereas heterozygosity for PDX-1 mutations has
295 ciency in mice results in metanephric kidney agenesis, whereas knockdown or mutation studies in zebra
297 r characterized by pancreatic and cerebellar agenesis, which indicates that the association of P48 an
300 nockdown of zebrafish Otop1 leads to otolith agenesis without affecting the sensory epithelium or oth
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