1 |
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
62
57
5
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Campeau PM...Lee BH
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23623387 |
2013 |
2 |
New ocular findings in two sisters with Yunis-Varón syndrome and literature review.
62
57
5
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Corona-Rivera JR...Zepeda-Romero LC
|
20932945 |
2011 |
3 |
Generalized lysosomal storage in Yunis Varón syndrome.
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57
5
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Dworzak F...Bertagnolio B
|
7496176 |
1995 |
4 |
Yunis-Varon syndrome with severe osteodysplasty.
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57
5
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Garrett C...Hall CM
|
2319578 |
1990 |
5 |
Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varón syndrome or report of a new entity.
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57
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Reutter H...Rudnik-Schoneborn S
|
22044576 |
2012 |
6 |
Yunis-Varon syndrome: further delineation of the phenotype.
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57
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Basel-Vanagaite L...Merlob P
|
18203163 |
2008 |
7 |
Yunis-Varon syndrome: evidence for a lysosomal storage disease.
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57
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Walch E...Bartmann P
|
11078567 |
2000 |
8 |
Yunis-Varon syndrome: the first case of German origin.
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57
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Rabe H...Wittwer B
|
8818450 |
1996 |
9 |
Congenital heart malformation in Yunis-Varón syndrome.
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57
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Ades LC...Haan EA
|
8411078 |
1993 |
10 |
Further delineation of the Yunis-Varon syndrome.
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57
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Hennekam RC...Vermeulen-Meiners C
|
2918527 |
1989 |
11 |
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
57
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Chow CY...Meisler MH
|
17572665 |
2007 |
12 |
Aplasia of the thumbs and great toes as the outstanding feature of Yunis and Varon syndrome. A new entity. A new observation.
57
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Pfeiffer RA...Stock HJ
|
3265308 |
1988 |
13 |
Brief clinical report: the syndrome of Yunis and Varón--report of a further case.
57
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Hughes HE...Partington MW
|
6859104 |
1983 |
14 |
Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome.
57
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Yunis E...Varon H
|
7395825 |
1980 |
15 |
Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.
62
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Lenk GM...Meisler MH
|
36434903 |
2022 |
16 |
Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects.
62
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Yu Y...Wu K
|
36340727 |
2022 |
17 |
FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
62
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Umair M...Alfadhel M
|
34899148 |
2021 |
18 |
Identification of Rpd3 as a novel epigenetic regulator of Drosophila FIG 4, a Charcot-Marie-Tooth disease-causing gene.
62
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Muraoka Y...Yoshida H
|
33850086 |
2021 |
19 |
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
62
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Semeraro M...Dionisi-Vici C
|
33422100 |
2021 |
20 |
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
62
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Wright GC...Harijan PD
|
32385905 |
2020 |
21 |
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
62
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Zimmermann M...Schols L
|
32268254 |
2020 |
22 |
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.
62
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Liao S...Zhong M
|
31876398 |
2020 |
23 |
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.
62
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Kaur P...Shukla A
|
31591492 |
2019 |
24 |
Cerebral hypomyelination associated with biallelic variants of FIG4.
62
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Lenk GM...Meisler MH
|
30740813 |
2019 |
25 |
Yunis-Varon Syndrome.
62
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Siddique AW...Karim T
|
31094135 |
2019 |
26 |
Protective role of the lipid phosphatase Fig4 in the adult nervous system.
62
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Mironova YA...Giger RJ
|
29688489 |
2018 |
27 |
Yunis-Varón syndrome caused by biallelic VAC14 mutations.
62
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Lines MA...Dyment DA
|
28635952 |
2017 |
28 |
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
62
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Lenk GM...Ploski R
|
27292112 |
2016 |
29 |
Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development.
62
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Kyotani A...Yamaguchi M
|
26708557 |
2016 |
30 |
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.
62
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Bharadwaj R...Lloyd TE
|
26662798 |
2016 |
31 |
Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.
62
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Lenk GM...Meisler MH
|
26604144 |
2016 |
32 |
Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells.
62
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Zou J...Li J
|
25926456 |
2015 |
33 |
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
62
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Vaccari I...Bolino A
|
25187576 |
2015 |
34 |
Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome.
62
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Varghese P...Crock P
|
24610892 |
2014 |
35 |
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
62
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Baulac S...Leguern E
|
24598713 |
2014 |
36 |
Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.
62
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Lenk GM...Meisler MH
|
24359958 |
2014 |
37 |
Yunis-Varón syndrome: the first report of two Iranian cases.
62
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Hadipour Z...Hadipour F
|
24658994 |
2014 |
38 |
Novel FIG4 mutations in Yunis-Varon syndrome.
62
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Nakajima J...Miyake N
|
24088667 |
2013 |
39 |
[The Yunis-Varon syndrome].
62
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Rivera JR
|
23264967 |
2012 |
40 |
[Yunis-Varon syndrome: a case report].
62
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Elizondo-Duenaz R...Martinez-Menchaca HR
|
22367312 |
2012 |
41 |
Yunis Varon syndrome.
62
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Kulkarni ML...Kulkarni PM
|
16816498 |
2006 |
42 |
Yunis-Varon syndrome.
62
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Bhatia S...Holla RG
|
15876600 |
2005 |
43 |
A case of Yunis-Varon syndrome complicated with complete cleft lip and palate.
62
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Sumi M...Ishimaru T
|
14755473 |
2004 |
44 |
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia.
62
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Faivre L...Le Merrer M
|
11446410 |
2001 |
45 |
[Yunis-Varon syndrome].
62
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Nagai T
|
11529050 |
2001 |
46 |
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
62
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Verloes A...Roeder E
|
10706363 |
2000 |
47 |
Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome.
62
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Christie J...Bergasa NV
|
10478891 |
1999 |
48 |
Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review.
62
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Oyer CE...Wallach M
|
10463294 |
1998 |
49 |
Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome.
62
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Lapeer GL...Fransman SL
|
1533447 |
1992 |