ELIZA

return kwic search for performed out of >500 occurrences
272110 occurrences (No.94 in the rank) during 5 years in the PubMed. [cache]

201) In this study, EP300 analysis was performed on 33 CREBBP-negative RSTS patients leading to the identification of six unreported germline EP300 alterations comprising one deletion and five point mutations.

--- ABSTRACT ---

PMID:24476420 DOI:10.1111/cge.12348

2015 Clinical genetics

* Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

- Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ˜55% and ˜3-5% of affected individuals, respectively. To date, only eight EP300-mutated RSTS patients have been described and 12 additional mutations are reported in the database LOVD. In this study, EP300 analysis was performed on 33 CREBBP-negative RSTS patients leading to the identification of six unreported germline EP300 alterations comprising one deletion and five point mutations. All six patients showed a convincing, albeit mild, RSTS phenotype with minor skeletal anomalies, slight cognitive impairment and few major malformations. Beyond the expansion of the RSTS-EP300-mutated cohort, this study indicates that EP300-related RSTS cases occur more frequently than previously thought (˜8% vs 3-5%); furthermore, the characterization of novel EP300 mutations in RSTS patients will enhance the clinical practice and genotype-phenotype correlations.

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[frequency of next (right) word to performed]

(1)60 in	(10)15 for	(19)3 based	(28)2 equally
(2)58 null	(11)13 at	(20)3 of	(29)2 normally
(3)45 to	(12)6 as	(21)3 this	(30)2 procedures
(4)35 using	(13)5 the	(22)2 3	(31)2 successfully
(5)33 on	(14)5 under	(23)2 6	(32)2 three
(6)30 with	(15)5 via	(24)2 better	(33)2 through
(7)23 by	(16)4 an	(25)2 both	(34)2 twice
(8)22 a	(17)4 before	(26)2 but
(9)16 and	(18)3 after	(27)2 daily

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--- WordNet output for performed --- Overview of verb perform The verb perform has 4 senses (first 4 from tagged texts) 1. (25) perform, execute, do -- (carry out or perform an action; "John did the painting, the weeding, and he cleaned out the gutters"; "the skater executed a triple pirouette"; "she did a little dance") 2. (19) perform -- (perform a function; "Who will perform the wedding?") 3. (19) perform -- (give a performance (of something); "Horowitz is performing at Carnegie Hall tonight"; "We performed a popular Gilbert and Sullivan opera") 4. (2) do, perform -- (get (something) done; "I did my job") --- WordNet end ---