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FRAGILE X SYNDROME PHENOTYPE [1 record]
Record 1 - internal organization data 1999-03-01
Record 1, English
Record 1, Subject field(s)
- Cytology
- Genetics
Record 1, Main entry term, English
- fragile X syndrome phenotype
1, record 1, English, fragile%20X%20syndrome%20phenotype
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
The research project concerns characterization of the expression of the FMR-1 gene in various cultured cells under various conditions of growth or states of differentiation ... The research would be more appealing if it were focused on testing a specific hypothesis, particularly one related to the fragile syndrome phenotype or RNA processing .... 1, record 1, English, - fragile%20X%20syndrome%20phenotype
Record number: 1, Textual support number: 2 CONT
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. DNA ... was analyzed ... using [a] probe in an unusual fragile X family with 6 brothers, three of whom are affected with fragile X to varying degrees. Fragile X chromosome studies, detailed physical examinations, and psychological testing were completed on all six ... The three affected males spanned the phenotypic and cognitive spectrum of the fragile X syndrome ... [Source: PASCAL database]. 2, record 1, English, - fragile%20X%20syndrome%20phenotype
Record 1, French
Record 1, Domaine(s)
- Cytologie
- Génétique
Record 1, Main entry term, French
- phénotype du syndrome X-fragile
1, record 1, French, ph%C3%A9notype%20du%20syndrome%20X%2Dfragile
proposal, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 OBS
[syndrome X-fragile :] des anomalies cytogénétiques constantes peuvent être la marque distinctive d'un syndrome hérité comme une maladie monogénique. Tel est le cas par exemple du syndrome X-fragile, principale cause d'arriération mentale masculine génétiquement transmise. 2, record 1, French, - ph%C3%A9notype%20du%20syndrome%20X%2Dfragile
Record 1, Spanish
Record 1, Textual support, Spanish
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