Revision history of "Identification of new candidate genes responsible for Angelman’s syndrome and development of a new diagnostic tool" (Q3141232)

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11 October 2024

  • curprev 09:1709:17, 11 October 2024DG Regio talk contribs 77,438 bytes +3 Changed label, description and/or aliases in pt
  • curprev 09:1709:17, 11 October 2024DG Regio talk contribs 77,435 bytes +27 Set a claim value: summary (P836): Aproximadamente 10% dos doentes com fenótipo SA permanecem sem diagnóstico. Acredita-se que existam genes responsáveis pelo fenótipo SA ainda não identificados. A função do gene UBE3A, responsável pela SA, é complexa e um déficit em algum ponto de sua rede molecular pode contribuir para as características associadas à SA. Na verdade, muitas síndromes que mostram um fenótipo que se sobrepõe à SA são causadas por mutações em genes cuja função interage...

7 March 2024

20 December 2023

12 June 2023

10 June 2023

4 August 2022

  • curprev 07:0207:02, 4 August 2022DG Regio talk contribs 76,127 bytes +52,339 Changed label, description and/or aliases in et, lt, hr, el, sk, fi, pl, hu, cs, lv, ga, sl, bg, mt, pt, da, ro, sv, nl, fr, de, it, es, and other parts: Adding translations: et, lt, hr, el, sk, fi, pl, hu, cs, lv, ga, sl, bg, mt, pt, da, ro, sv,

16 January 2022

17 December 2021

9 December 2021

2 December 2021

  • curprev 11:3611:36, 2 December 2021DG Regio talk contribs 15,563 bytes +2,630 Created claim: summary (P836): Environ 10 % des patients atteints de phénotype SA restent non diagnostiqués. On croit qu’il existe des gènes responsables du phénotype SA mais non identifiés. La fonction du gène UBE3A, responsable de l’AS, est complexe et un déficit à un moment donné de son réseau moléculaire peut contribuer aux caractéristiques associées à l’AS. En fait, de nombreux syndromes qui montrent un phénotype qui se chevauchent avec l’AS sont causés par des mutations...
  • curprev 11:3611:36, 2 December 2021DG Regio talk contribs 12,933 bytes +192 Changed label, description and/or aliases in fr: translated_label

12 October 2021

  • curprev 13:3213:32, 12 October 2021DG Regio talk contribs 12,741 bytes +176 Changed label, description and/or aliases in en: translated_label
  • curprev 13:3213:32, 12 October 2021DG Regio talk contribs 12,565 bytes +2,401 Created claim: summary (P836): Approximately 10 % of patients with SA phenotype remain undiagnosed. It is believed that there are genes responsible for the SA phenotype yet unidentified. The function of the UBE3A gene, responsible for SA, is complex and a deficit at some point in its molecular network may contribute to the characteristics associated with SA. In fact, many syndromes that show a phenotype overlapping with SA are caused by mutations in genes whose function inter...

10 October 2021

9 October 2021

7 October 2021