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1                                              FEVR causes blindness due to complications arising from
2                                              FEVR stages 1, 2, 3, 4, and 5 were observed in 38.0%, 13
3 A) of the patient's parents detected stage 1 FEVR.
4  identified 11 different mutations in 15/110 FEVR probands.
5 nto five groups: patients with stage 1 and 2 FEVR (FEVR group), patients with ROP who received treatm
6 raphic findings consistent with stage 1 or 2 FEVR and 21% demonstrated clinical or angiographic findi
7 age 3, 4, or 5 FEVR and 24% had stage 1 or 2 FEVR.
8  patients, 76% had clinical stage 3, 4, or 5 FEVR and 24% had stage 1 or 2 FEVR.
9 ic findings consistent with stage 3, 4, or 5 FEVR.
10 seven mutations identified in a cohort of 70 FEVR patients in whom we had already excluded the known
11 raphy analysis of 117 patients (187 eyes; 92 FEVR patients and 95 control participants) demonstrated
12                         However, half of all FEVR-affected case subjects do not harbor mutations in t
13  find a small molecule that could ameliorate FEVR models.
14 er characterized the variations in NDP among FEVR patients from India.
15 and is statistically significant for ROP and FEVR (P = 4.6E-04 and P = 2.4E-03, respectively) compare
16 inforce the classification of ROPER (ROP and FEVR) and introduce the term, ROPMERE (ROP and TBD), to
17 interactions are linked to Wnt signaling and FEVR.
18 1 because the phenotypic distinction between FEVR and MLCRD/CDMMR portends management implications in
19                               Subanalysis by FEVR stage showed the same microvascular changes compare
20                              In severe cases FEVR may lead to retinal detachment and visual impairmen
21 nes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases.
22 ts with phenotypic and genetically confirmed FEVR or TBD were identified.
23                           Autosomal dominant FEVR is genetically heterogeneous, but its principal loc
24 omal recessive as well as autosomal dominant FEVR.
25 both of these genes cause autosomal dominant FEVR.
26 ons in TSPAN12 also cause autosomal-dominant FEVR.
27 and c.2128C>T [p.Arg710Cys]) in two dominant FEVR-affected families and a de novo mutation (c.1434_14
28 hich was also present in an additional Dutch FEVR family that subsequently appeared to share a common
29                             In a large Dutch FEVR family, we performed linkage analysis, exome sequen
30                                 Twenty-eight FEVR probands with diagnoses made by the referring physi
31 ve groups: patients with stage 1 and 2 FEVR (FEVR group), patients with ROP who received treatment (t
32 tributor to abnormal retinal angiogenesis in FEVR is likely through a decrease in vascular formation/
33 r validates the involvement of these gene in FEVR development.
34      The majority of mutations identified in FEVR are found within four genes that encode the recepto
35  factor (ZNF408) has also been implicated in FEVR.
36 gnaling may help treat ocular pathologies in FEVR and potentially other defective Wnt signaling-relat
37 e first study to implicate S1PR signaling in FEVR and to show that a small drug-like molecule can res
38  the referring physician and without a known FEVR gene mutation, and 3 with microcephaly and choriore
39 ression using shRNA or expression of a known FEVR-causing dominant negative allele of FZD4 decreases
40 ts in whom we had already excluded the known FEVR genes.
41                       Genetic studies linked FEVR with mutations in Wnt signaling ligand or receptors
42 nal vasculature and also indicates that more FEVR genes remain to be identified.
43 D4 mutations are responsible for only 20% of FEVR index cases and suggests that the other FEVR loci m
44                                     Cases of FEVR should be carefully inspected for the presence of m
45 catenin signaling is an established cause of FEVR, whereas other molecular alterations contributing t
46 he gene encoding beta-catenin, as a cause of FEVR.
47 e patients (10 families) with a diagnosis of FEVR and microcephaly were ascertained from pediatric ge
48 as conducted of patients with a diagnosis of FEVR between January 2011 and January 2013 at a single t
49 s were excluded if a definitive diagnosis of FEVR could not be made.
50     Patients were excluded if a diagnosis of FEVR could not be made.
51 sion criteria included clinical diagnosis of FEVR in patients referred to our clinic for evaluation o
52 ria included confirmed clinical diagnosis of FEVR in patients referred to our clinic for evaluation o
53          We present new anatomic features of FEVR with functional and genetic correlations.
54                                  One form of FEVR is caused by defects in Frizzled-4 (Fz4), a presump
55 e FEVR, these account for only a fraction of FEVR cases.
56 cohort reported a positive family history of FEVR in a first-degree relative.
57 ents frequently have early manifestations of FEVR (stage 1 or 2).
58 el to explore the clinical manifestations of FEVR.
59               Asymptomatic family members of FEVR patients frequently have early manifestations of FE
60 n a Lrp5 knockout (Lrp5(-/-)) mouse model of FEVR and explored whether treatment with a pharmacologic
61 he well-established Fzd4(-/-) mouse model of FEVR, dosing animals with JTE-013 ameliorated the retina
62  addition of JTE-013 to both hRMEC models of FEVR resulted in the restoration of tubularization.
63  can ameliorate cellular and mouse models of FEVR.
64  vascularization in cell and mouse models of FEVR.
65 enotypes seen in established mouse models of FEVR.
66                       Forty-three percent of FEVR patients had detectable mutations in FZD4, NDP, or
67 complete characterization of early stages of FEVR.
68  Coats' disease (57%), toxocariasis (8%), or FEVR (6%).
69 ndings have led to an update of the original FEVR classification scheme and more complete characteriz
70 FEVR index cases and suggests that the other FEVR loci may account for more cases than previously ant
71                          Autosomal recessive FEVR was diagnosed in multiple individuals from three co
72                                  Early-stage FEVR may progress to more advanced stages, which can res
73 tations is useful in patients with suspected FEVR and ROP.
74 diate relatives of patients with symptomatic FEVR.
75 se series suggest that extraocular syndromic FEVR was associated with FZD4 variants.
76 ted CTNNB1 mutations can cause non-syndromic FEVR and that FEVR can be a part of the syndromic ID phe
77 ations can cause non-syndromic FEVR and that FEVR can be a part of the syndromic ID phenotype, furthe
78 2 (5.4 %) and ZNF408 (2.7 %) genes among the FEVR patients, indicating their potential role in the di
79                              Patients in the FEVR group had a higher proportion of grade 4 foveal hyp
80                              Patients in the FEVR group had more foveal hypoplasia than those in the
81                              Patients in the FEVR group had the highest degrees of myopia (p < 0.001)
82          The axial length of patients in the FEVR group was significantly longer than that of patient
83      The most common genetic variants in the FEVR group were identified in the genes LRP5 (n = 5, 33.
84 the significantly longer axial length of the FEVR group might be the reason for the greater myopic ch
85                The proteins encoded by these FEVR genes form part of a signaling complex that activat
86                     The DNA of 110 unrelated FEVR patients and 115 unaffected controls were screened
87 s with familial exudative vitreoretinopathy (FEVR) and retinopathy of prematurity (ROP).
88 res of familial exudative vitreoretinopathy (FEVR) have not been well described.
89 minant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long
90 res of familial exudative vitreoretinopathy (FEVR) in human patients.
91        Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characteri
92        Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder that affects both the
93        Familial exudative vitreoretinopathy (FEVR) is a human disease characterized by defective reti
94        Familial exudative vitreoretinopathy (FEVR) is a nonsyndromic autosomal dominant retinal disor
95        Familial exudative vitreoretinopathy (FEVR) is a rare finding in patients with genetic forms o
96        Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by
97        Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal v
98        Familial exudative vitreoretinopathy (FEVR) is an inherited childhood blinding disorder with c
99        Familial exudative vitreoretinopathy (FEVR) is characterized by delayed retinal vascular devel
100 (ROP), familial exudative vitreoretinopathy (FEVR), and telomere biology disorders (TBD) are classifi
101 d with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recent
102 del of familial exudative vitreoretinopathy (FEVR), developmental hypovascularization of the retina p
103 sis of familial exudative vitreoretinopathy (FEVR), Norrie disease, Coats' disease, bilateral persist
104 ory of familial exudative vitreoretinopathy (FEVR), were also excluded.
105 ne for familial exudative vitreoretinopathy (FEVR), which is caused by defects in norrin signaling.
106 se and familial exudative vitreoretinopathy (FEVR).
107 sis of familial exudative vitreoretinopathy (FEVR, MIM # 133780).
108 ; 4%), familial exudative vitreoretinopathy (FEVR; n = 18; 3%), rhegmatogenous retinal detachment (n
109  Final diagnosis for 15 patients (78.9%) was FEVR, and final diagnosis for 4 patients (21.1%) was TBD
110 d angiographic findings were associated with FEVR on wide-field angiography.
111 culogenesis in humans and is associated with FEVR.
112                      Patients diagnosed with FEVR and treated at Ramathibodi Hospital, Bangkok, Thail
113 lous microstructural findings; all eyes with FEVR severity of stage 2 or greater had abnormalities.
114 ion in a substantial proportion of eyes with FEVR.
115 of ZNF408 in 132 additional individuals with FEVR revealed another potentially pathogenic missense va
116  a spectrum along which ROP may overlap with FEVR or TBD.
117  this gene can lead to clinical overlap with FEVR.
118 ration demonstrating phenotypic overlap with FEVR.
119                    Fifty-seven patients with FEVR and 60 healthy controls had OCTA images of sufficie
120  SD, and FD and greater VDI in patients with FEVR compared with controls in the nonsegmented retina,
121                                Patients with FEVR demonstrated abnormalities in the macular microvasc
122                                Patients with FEVR had significantly greater myopic change than patien
123                           Most patients with FEVR presented with mild disease requiring no treatment,
124 o screen FZD4 in a panel of 40 patients with FEVR to identify the types and location of mutations and
125 ties for FZD4 gene variants in patients with FEVR.
126 l anomalies in the majority of patients with FEVR.
127 ne in a cohort of 40 unrelated patients with FEVR.
128 raphy analysis of 95 eyes (53 patients) with FEVR demonstrated capillary nonperfusion in all eyes: 47
129 ed mutation were identified in probands with FEVR: p.A218Gfs*15, p.E470X, p.R221G, c.790-1G>T, and th

 
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