ELIZA

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324223 occurrences (No.64 in the rank) during 5 years in the PubMed. [no cache] 500 found

221) We identified a heterozygous c.57 C > T mutation in miR-184 in the proband and two additional affected relatives on the maternal side.

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PMID:24138095 DOI:10.3109/13816810.2013.848908

2015 Ophthalmic genetics

* C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain.

- A c.57 C > T mutation in the seed region of MIR184 located at the 15q25.1 chromosomal region has been independently associated with autosomal dominant keratoconus with early-onset anterior polar cataract in the Northern Irish family and with autosomal dominant EDICT (Endothelial Dystrophy, Iris hypoplasia, Congenital cataracts, and stromal Thinning) syndrome. In this study we report a five-generation family originating in Galicia, Spain with early onset cataracts and variable corneal abnormalities which include non-ectatic corneal thinning and severe early-onset keratoconus. We identified a heterozygous c.57 C We identified a heterozygous c.57 C > T mutation in miR-184 in the proband and two additional affected relatives on the maternal side.gt; T mutation in miR-184 in the proband and two additional affected relatives on the maternal side. This finding represents a third independent occurrence of this mutation in familiar ocular disease thus strengthening the link between miR-184 abnormalities and inherited eye defects.

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(1)62 as	(11)7 based	(21)3 an	(31)2 differences
(2)54 in	(12)7 on	(22)3 during	(32)2 five
(3)38 null	(13)6 with	(23)3 factors	(33)2 for
(4)24 by	(14)5 between	(24)3 several	(34)2 regulation
(5)21 and	(15)5 to	(25)3 three	(35)2 their
(6)19 the	(16)5 two	(26)2 14	(36)2 themes
(7)18 a	(17)4 four	(27)2 4	(37)2 through
(8)12 using	(18)4 including	(28)2 are
(9)10 that	(19)4 which	(29)2 at
(10)8 from	(20)3 along	(30)2 but

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--- WordNet output for identified --- =>確認飛行物体;略:IFO Overview of verb identify The verb identify has 6 senses (first 6 from tagged texts) 1. (32) identify, place -- (recognize as being; establish the identity of someone or something; "She identified the man on the 'wanted' poster") 2. (7) name, identify -- (give the name or identifying characteristics of; refer to by name or some other identifying characteristic property; "Many senators were named in connection with the scandal"; "The almanac identifies the auspicious months") 3. (6) identify -- (consider (oneself) as similar to somebody else; "He identified with the refugees") 4. (4) identify -- (conceive of as united or associated; "Sex activity is closely identified with the hypothalamus") 5. (2) identify, discover, key, key out, distinguish, describe, name -- (identify as in botany or biology, for example) 6. (2) identify -- (consider to be equal or the same; "He identified his brother as one of the fugitives") Overview of adj identified The adj identified has 1 sense (first 1 from tagged texts) 1. (1) identified -- (having the identity known or established; "the identified bodies were released for burial") --- WordNet end ---