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Items: 7

1.

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease.

Neurology. 2018 May 11. pii: 10.1212/WNL.0000000000005660. doi: 10.1212/WNL.0000000000005660. [Epub ahead of print]

PMID:
29752303
2.

A pilot study on immuno-psychiatry in the 22q11.2 deletion syndrome: A role for Th17 cells in psychosis?

Vergaelen E, Schiweck C, Van Steeland K, Counotte J, Veling W, Swillen A, Drexhage H, Claes S.

Brain Behav Immun. 2018 May;70:88-95. doi: 10.1016/j.bbi.2018.03.022. Epub 2018 Mar 19.

PMID:
29567371
3.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.

Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28.

4.

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium.

Am J Psychiatry. 2017 Nov 1;174(11):1054-1063. doi: 10.1176/appi.ajp.2017.16121417. Epub 2017 Jul 28.

5.

High prevalence of fatigue in adults with a 22q11.2 deletion syndrome.

Vergaelen E, Claes S, Kempke S, Swillen A.

Am J Med Genet A. 2017 Apr;173(4):858-867. doi: 10.1002/ajmg.a.38094. Epub 2017 Feb 12.

PMID:
28190295
6.

A catalog of hemizygous variation in 127 22q11 deletion patients.

Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Suhl JA, Del-Favero J, Mortier G, Zackai E, Swillen A, Devriendt K, Gur RE, McDonald-McGinn DM, Warren ST, Emanuel BS, Vermeesch JR.

Hum Genome Var. 2016 Jan 14;3:15065. doi: 10.1038/hgv.2015.65. eCollection 2016.

7.

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

Vergaelen E, Swillen A, Van Esch H, Claes S, Van Goethem G, Devriendt K.

Eur J Med Genet. 2015 Apr;58(4):244-8. doi: 10.1016/j.ejmg.2015.01.008. Epub 2015 Feb 3.

PMID:
25655469

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