遺伝性網脈絡膜疾患の遺伝子解析 Molecular Genetic Analysis of Inherited Chorioretinal Diseases
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- 吉田 茂生 YOSHIDA Shigeo
- 九州大学大学院医学研究院眼科学分野
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- 山地 陽子 YAMAJI Yoko
- 九州大学大学院医学研究院眼科学分野
この論文をさがす
著者
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- 吉田 茂生 YOSHIDA Shigeo
- 九州大学大学院医学研究院眼科学分野
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- 山地 陽子 YAMAJI Yoko
- 九州大学大学院医学研究院眼科学分野
収録刊行物
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- あたらしい眼科 = Journal of the eye
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あたらしい眼科 = Journal of the eye 23(9), 1113-1123, 2006-09-30
参考文献: 56件中 1-56件 を表示
-
1
- Cone and cone-rod dystrophies
-
MOORE AT
J Med Genet 29, 289-290, 1992
被引用文献1件
-
2
- Cone-rod dystrophy. A clinical and histopathologic report
-
RABB MF
Ophthalmology 93, 1443-1451, 1986
被引用文献1件
-
3
- Hereditary vitelliform macular dystrophy
-
GODEL V
Aust NZ J Ophthalmol 14, 221-228, 1986
被引用文献1件
-
4
- Alterations in the standing potential of the eye associated with retinal disease
-
ARDEN GB
Trans Ophthalmol Soc UK 82, 63-72, 1962
被引用文献1件
-
5
- Electro-oculography in Best's macular dystrophy
-
CROSS HE
Am J Ophthalmol 77, 46-50, 1974
被引用文献1件
-
6
- Ocular and systemic manifestations of Stickler's syndrome : a preliminary report
-
WEINGEIST TA
Birth Defects Orig Artic Ser 18, 539-560, 1982
被引用文献1件
-
7
- A histopathologic study of Best's macular dystrophy
-
FRANGIEH GT
Arch Ophthalmol 100, 1115-1121, 1982
被引用文献1件
-
8
- 変異解析を行った卵黄様黄斑ジストロフィの1例
-
塩瀬聡美
網脈絡膜 視神経萎縮症に関する研究 平成16年度総括 分担研究報告書, 2005
被引用文献1件
-
9
- Ueber familiare, progressive degeneration in der Makulagegend des Auges
-
STAGARDT K
Albrecht von Graefes Arch Klin Exp Ophthal 71, 534-549, 1909
被引用文献1件
-
10
- Retinal pigment epithelial abnormalities in fundus flavimaculatus : a light and electron microscopic study
-
EAGLE RC Jr
Ophthalmology 87, 1189-1200, 1980
被引用文献1件
-
11
- Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus
-
LOIS N
Arch Ophthalmol 119, 359-369, 2001
被引用文献1件
-
12
- Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
CREMERS FP
Hum Mol Genet 7, 355-362, 1998
被引用文献1件
-
13
- Hereditary progressive arthro-ophthalmopathy
-
STICKLER GB
Mayo Clin Proc 40, 433-455, 1965
被引用文献1件
-
14
- Clinical and molecular genetics of Stickler syndrome
-
SNEAD MP
J Med Genet 36, 353-359, 1999
被引用文献1件
-
15
- Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich
-
WAGNER H
Klin Monatsbl Augenheilkd 100, 840-857, 1938
被引用文献1件
-
16
- Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14
-
BROWN DM
Arch Ophthalmol 113, 671-675, 1995
被引用文献1件
-
17
- Identification of the genetic defect in the original Wagner syndrome family
-
KLOECKENER-GRUISSEM B
Mol Vis 12, 350-355, 2006
被引用文献1件
-
18
- Familial exudative vitreoretinopathy
-
CRISWICK VG
Am J Ophthalmol 68, 578-594, 1969
被引用文献1件
-
19
- Familial exudative vitreoretinopathy
-
BENSON WE
Trans Am Ophthalmol Soc 93, 473-521, 1995
被引用文献1件
-
20
- <no title>
-
MCKUSICK VA
Heritable Disorders of Connective Tissue 4th, 475-520, 1972
被引用文献1件
-
21
- The pathology of angioid streaks : a study of twenty-one cases
-
DREYER R
Trans Pa Acad Ophthalmol Otolaryngol 31, 158-167, 1978
被引用文献1件
-
22
- Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa
-
YOSHIDA S
Eye 19, 215-217, 2005
被引用文献1件
-
23
- Finishing the euchromatic sequence of the human genome
-
International Human Genome Sequencing Consortium
Nature 431, 931-945, 2004
DOI 被引用文献71件
-
24
- A haplotype map of the human genome
-
The International HapMap Consortium
Nature 437, 1299-1320, 2005
DOI 被引用文献60件
-
26
- Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy
-
ITO S
Invest Ophthalmol Vis Sci 45, 1480-1485, 2004
DOI 被引用文献4件
-
27
- Identification of the gene responsible for Best macular dystrophy
-
PETRUKHIN K.
Nat Genet 19, 241-247, 1998
被引用文献4件
-
28
- Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
-
MARMORSTEIN AD
Proc Natl Acad Sci USA 97, 12758-12763, 2000
被引用文献2件
-
29
- The vitelliform macular dystrophy protein defines a new family of chloride channels
-
SUN H
Proc Natl Acad Sci USA 99, 4008-4013, 2002
被引用文献4件
-
30
- <no title>
-
ALLIKMETS R.
Nat. Genet. 15, 236-246, 1997
被引用文献20件
-
31
- <no title>
-
WENG J.
Cell 98, 13-23, 1999
被引用文献8件
-
32
- Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration
-
MATA NL
Proc Natl Acad Sci USA 97, 7154-7159, 2000
被引用文献2件
-
34
- The 2588G->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
-
MAUGERI A
Am J Hum Genet 64, 1024-1035, 1999
DOI 被引用文献3件
-
35
- Positional cloning of the gene associated with X-linked juvenile retinoschisis
-
SAUER CG.
Nat Genet 17, 164-170, 1997
DOI 被引用文献17件
-
36
- <no title>
-
CURAT CA
J. Biol. Chem. 276, 45952-45958, 2001
被引用文献2件
-
37
- A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation
-
TAKADA Y
Invest Ophthalmol Vis Sci 45, 3302-3312, 2004
DOI 被引用文献1件
-
38
- COL2A1 exon 2 mutations : relevance to the Stickler and Wagner syndromes
-
RICHARDS AJ
Br J Ophthalmol 84, 364-371, 2000
DOI 被引用文献2件
-
39
- Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family
-
DONOSO LA
Am J Ophthalmol 134, 720-727, 2002
DOI 被引用文献2件
-
40
- Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene
-
GO SL
Invest Ophthalmol Vis Sci 44, 4035-4043, 2003
DOI 被引用文献2件
-
41
- Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler syndrome type I
-
YOSHIDA S
Eye 20, 743-745, 2006
DOI 被引用文献4件
-
42
- Stickler syndrome : clinical care and molecular genetics
-
PARKE DW
Am J Ophthalmol 134, 746-748, 2002
DOI 被引用文献2件
-
43
- Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2-to 2. 5-cM region of chromosome 5q14. 3
-
PERVEEN R
Genomics 57, 219-226, 1999
被引用文献2件
-
44
- Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome
-
MIYAMOTO T
Invest Ophthalmol Vis Sci 46, 2726-2735, 2005
DOI 被引用文献1件
-
45
- Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
-
ROBITAILLE J.
Nat Genet 32, 326-330, 2002
DOI 被引用文献8件
-
46
- Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5
-
JIAO X
Am J Hum Genet 75, 878-884, 2004
DOI 被引用文献3件
-
47
- Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
-
TOOMES C
Am J Hum Genet 74, 721-730, 2004
DOI 被引用文献2件
-
48
- A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
-
CHEN ZY.
Nat Genet 5, 180-183, 1993
被引用文献10件
-
49
- Vascular development in the retina and inner ear : control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair
-
XU Q.
Cell 116, 883-895, 2004
DOI 被引用文献10件
-
50
- Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous
-
CHANG-GODINICH A
Am J Ophthalmol 127, 469-471, 1999
DOI 被引用文献2件
-
51
- Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy
-
YOSHIDA S
Am J Ophthalmol 138, 670-671, 2004
DOI 被引用文献2件
-
52
- 網膜色素線条と弾性線維仮性黄色腫
-
猪俣孟
臨眼 50, 116-117, 1996
医中誌Web 被引用文献2件
-
53
- Mutations in ABCC6 cause pseudoxanthoma elasticum
-
BERGEN AA
Nat Genet 25, 228-231, 2000
被引用文献10件
-
54
- Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface?
-
UITTO J
J Invest Dermatol 122, ix-x, 2004
DOI 被引用文献2件
-
55
- Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues
-
KLEMENT JF
Mol Cell Biol 25, 8299-8310, 2005
DOI 被引用文献3件
-
56
- 基礎シリーズ 眼科医のための先端医療(66)もっと速く患者様の病因を知りたい
-
吉田 茂生 , 山下 英俊
あたらしい眼科 23(6), 771-774, 2006-06
医中誌Web 被引用文献2件