コーパス検索結果 (1語後でソート)
通し番号をクリックするとPubMedの該当ページを表示します
1 metaphyseal dysplasia, Kniest dysplasia, and Stickler syndrome.
2 t arising from giant retinal tears in type 1 Stickler syndrome.
3 facial, or auditory) usually associated with Stickler syndrome.
4 ypically similar to the more common disorder Stickler syndrome.
5 y been found in a family described as having Stickler syndrome, although there was no ocular involvem
6 ed 11 patients with glaucoma, 1 patient with Stickler syndrome, and 1 patient with an IOL exchange at
8 n XI can give rise to some manifestations of Stickler syndrome, but of these, only mutations in COL11
9 lism of Marshall syndrome with the subset of Stickler syndrome families associated with COL11A1 mutat
11 irst time that a family with the full Type 2 Stickler syndrome including vitreous and retinal abnorma
12 on distinct from both Wagner disease and the Stickler syndromes indicates that SVD is a distinct gene
13 that limited visual potential and 1 who had Stickler syndrome), leaving 109 total children analyzed
14 nking COL2A1 and COL11A1, the known loci for Stickler syndrome; mutation screening of COL2A1; constru
16 r intragenic to the genes for the 18p locus, Stickler syndromes type I and II (12q13.1-q13.3 and 6p21
18 kers flanking or intragenic to the genes for Stickler syndrome types 1 and 2 (chromosomes 12q13.1-q13
19 nce of linkage was found for markers for the Stickler syndrome types 1 and 2, the Marfan syndrome, or
20 by using intragenic or flanking markers for Stickler syndrome types 1, 2, and 2B; Marfan syndrome; E
WebLSDに未収録の専門用語(用法)は "新規対訳" から投稿できます。