| 1 |
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
4
|
El-Hattab AW...Cheung SW
|
25927380
|
2015 |
| 2 |
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
4
|
Andersen EF...Lamb AN
|
24700761
|
2014 |
| 3 |
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
4
|
Vanmarsenille L...Froyen G
|
24357492
|
2014 |
| 4 |
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.
4
|
Lannoy N...Hermans C
|
23299923
|
2013 |
| 5 |
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
4
|
Takano K...Dulhunty AF
|
22814392
|
2012 |
| 6 |
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
4
|
El-Hattab AW...Cheung SW
|
21984752
|
2011 |
| 7 |
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
4
|
Giannandrea M...D'Adamo P
|
20159109
|
2010 |
| 8 |
Rab GTPases as coordinators of vesicle traffic.
4
|
Stenmark H
|
19603039
|
2009 |
| 9 |
CLIC2-RyR1 interaction and structural characterization by cryo-electron microscopy.
4
|
Meng X...Yin CC
|
19356589
|
2009 |
| 10 |
Rab GTPases and their roles in brain neurons and glia.
4
|
Ng EL...Tang BL
|
18485483
|
2008 |
| 11 |
Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture.
4
|
Bagnall RD...Green PM
|
16241967
|
2005 |
| 12 |
Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
38
|
El-Hattab AW...Cheung SW
|
26962617
|
2016 |
