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1  identified 11 different mutations in 15/110 FEVR probands.
2 raphic findings consistent with stage 1 or 2 FEVR and 21% demonstrated clinical or angiographic findi
3 age 3, 4, or 5 FEVR and 24% had stage 1 or 2 FEVR.
4  patients, 76% had clinical stage 3, 4, or 5 FEVR and 24% had stage 1 or 2 FEVR.
5 ic findings consistent with stage 3, 4, or 5 FEVR.
6 seven mutations identified in a cohort of 70 FEVR patients in whom we had already excluded the known
7                         However, half of all FEVR-affected case subjects do not harbor mutations in t
8 er characterized the variations in NDP among FEVR patients from India.
9 and is statistically significant for ROP and FEVR (P = 4.6E-04 and P = 2.4E-03, respectively) compare
10 1 because the phenotypic distinction between FEVR and MLCRD/CDMMR portends management implications in
11                              In severe cases FEVR may lead to retinal detachment and visual impairmen
12 nes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases.
13                           Autosomal dominant FEVR is genetically heterogeneous, but its principal loc
14 omal recessive as well as autosomal dominant FEVR.
15 both of these genes cause autosomal dominant FEVR.
16 ons in TSPAN12 also cause autosomal-dominant FEVR.
17 and c.2128C>T [p.Arg710Cys]) in two dominant FEVR-affected families and a de novo mutation (c.1434_14
18 hich was also present in an additional Dutch FEVR family that subsequently appeared to share a common
19                             In a large Dutch FEVR family, we performed linkage analysis, exome sequen
20                                 Twenty-eight FEVR probands with diagnoses made by the referring physi
21 r validates the involvement of these gene in FEVR development.
22      The majority of mutations identified in FEVR are found within four genes that encode the recepto
23  factor (ZNF408) has also been implicated in FEVR.
24 gnaling may help treat ocular pathologies in FEVR and potentially other defective Wnt signaling-relat
25  the referring physician and without a known FEVR gene mutation, and 3 with microcephaly and choriore
26 ts in whom we had already excluded the known FEVR genes.
27                       Genetic studies linked FEVR with mutations in Wnt signaling ligand or receptors
28 nal vasculature and also indicates that more FEVR genes remain to be identified.
29 D4 mutations are responsible for only 20% of FEVR index cases and suggests that the other FEVR loci m
30                                     Cases of FEVR should be carefully inspected for the presence of m
31 he gene encoding beta-catenin, as a cause of FEVR.
32 as conducted of patients with a diagnosis of FEVR between January 2011 and January 2013 at a single t
33 s were excluded if a definitive diagnosis of FEVR could not be made.
34     Patients were excluded if a diagnosis of FEVR could not be made.
35 sion criteria included clinical diagnosis of FEVR in patients referred to our clinic for evaluation o
36 ria included confirmed clinical diagnosis of FEVR in patients referred to our clinic for evaluation o
37          We present new anatomic features of FEVR with functional and genetic correlations.
38                                  One form of FEVR is caused by defects in Frizzled-4 (Fz4), a presump
39 e FEVR, these account for only a fraction of FEVR cases.
40 cohort reported a positive family history of FEVR in a first-degree relative.
41 ents frequently have early manifestations of FEVR (stage 1 or 2).
42 el to explore the clinical manifestations of FEVR.
43               Asymptomatic family members of FEVR patients frequently have early manifestations of FE
44 n a Lrp5 knockout (Lrp5(-/-)) mouse model of FEVR and explored whether treatment with a pharmacologic
45                       Forty-three percent of FEVR patients had detectable mutations in FZD4, NDP, or
46 complete characterization of early stages of FEVR.
47  Coats' disease (57%), toxocariasis (8%), or FEVR (6%).
48 ndings have led to an update of the original FEVR classification scheme and more complete characteriz
49 FEVR index cases and suggests that the other FEVR loci may account for more cases than previously ant
50                          Autosomal recessive FEVR was diagnosed in multiple individuals from three co
51                                  Early-stage FEVR may progress to more advanced stages, which can res
52 tations is useful in patients with suspected FEVR and ROP.
53 diate relatives of patients with symptomatic FEVR.
54 ted CTNNB1 mutations can cause non-syndromic FEVR and that FEVR can be a part of the syndromic ID phe
55 ations can cause non-syndromic FEVR and that FEVR can be a part of the syndromic ID phenotype, furthe
56 2 (5.4 %) and ZNF408 (2.7 %) genes among the FEVR patients, indicating their potential role in the di
57                The proteins encoded by these FEVR genes form part of a signaling complex that activat
58                     The DNA of 110 unrelated FEVR patients and 115 unaffected controls were screened
59 res of familial exudative vitreoretinopathy (FEVR) have not been well described.
60 minant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long
61 res of familial exudative vitreoretinopathy (FEVR) in human patients.
62        Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characteri
63        Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder that affects both the
64        Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by
65        Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal v
66        Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal v
67        Familial exudative vitreoretinopathy (FEVR) is characterized by delayed retinal vascular devel
68 d with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recent
69 sis of familial exudative vitreoretinopathy (FEVR), Norrie disease, Coats' disease, bilateral persist
70 ory of familial exudative vitreoretinopathy (FEVR), were also excluded.
71 se and familial exudative vitreoretinopathy (FEVR).
72 sis of familial exudative vitreoretinopathy (FEVR, MIM # 133780).
73 ; 4%), familial exudative vitreoretinopathy (FEVR; n = 18; 3%), rhegmatogenous retinal detachment (n
74 d angiographic findings were associated with FEVR on wide-field angiography.
75 culogenesis in humans and is associated with FEVR.
76 lous microstructural findings; all eyes with FEVR severity of stage 2 or greater had abnormalities.
77 of ZNF408 in 132 additional individuals with FEVR revealed another potentially pathogenic missense va
78  this gene can lead to clinical overlap with FEVR.
79 ration demonstrating phenotypic overlap with FEVR.
80 o screen FZD4 in a panel of 40 patients with FEVR to identify the types and location of mutations and
81 l anomalies in the majority of patients with FEVR.
82 ne in a cohort of 40 unrelated patients with FEVR.
83 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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