Sökning: WFRF:(Philip Nicole) > Whole ARX Gene Dupl...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 02533naa a2200433 4500 | |
001 | oai:DiVA.org:uu-232575 | |
003 | SwePub | |
008 | 140922s2014 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2325752 URI |
024 | 7 | a https://doi.org/10.1002/ajmg.a.365642 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Popovici, Cornel4 aut |
245 | 1 0 | a Whole ARX Gene Duplication is Compatible With Normal Intellectual Development |
264 | c 2014-07-07 | |
264 | 1 | b Wiley,c 2014 |
338 | a print2 rdacarrier | |
520 | a We report here on four males from three families carrying de novo or inherited small Xp22.13 duplications including the ARX gene detected by chromosomal microarray analysis (CMA). Two of these males had normal intelligence. Our report suggests that, unlike other XLMR genes like MECP2 and FMR1, the presence of an extra copy of the ARX gene may not be sufficient to perturb its developmental functions. ARX duplication does not inevitably have detrimental effects on brain development, in contrast with the effects of ARX haploinsufficiency. The abnormal phenotype ascribed to the presence of an extra copy in some male patients may have resulted from the effect of another, not yet identified, chromosomal or molecular anomaly, alone or in association with ARX duplication. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a Xp22.13 duplication | |
653 | a ARX | |
653 | a chromosomal microarray analysis | |
700 | 1 | a Busa, Tiffany4 aut |
700 | 1 | a Boute, Odile4 aut |
700 | 1 | a Thuresson, Ann-Charlotteu Uppsala universitet,Medicinsk genetik,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)anncthur |
700 | 1 | a Perret, Odile4 aut |
700 | 1 | a Sigaudy, Sabine4 aut |
700 | 1 | a Soedergren, Tommy4 aut |
700 | 1 | a Andrieux, Joris4 aut |
700 | 1 | a Moncla, Anne4 aut |
700 | 1 | a Philip, Nicole4 aut |
710 | 2 | a Uppsala universitetb Medicinsk genetik4 org |
773 | 0 | t American Journal of Medical Genetics. Part Ad : Wileyg 164A:9, s. 2324-2327q 164A:9<2324-2327x 1552-4825x 1552-4833 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-232575 |
856 | 4 8 | u https://doi.org/10.1002/ajmg.a.36564 |
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