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Items: 1 to 20 of 181

1.

A mouse model of 22q11.2 deletions: Molecular and behavioral signatures of Parkinson's disease and schizophrenia.

Sumitomo A, Horike K, Hirai K, Butcher N, Boot E, Sakurai T, Nucifora FC Jr, Bassett AS, Sawa A, Tomoda T.

Sci Adv. 2018 Aug 15;4(8):eaar6637. doi: 10.1126/sciadv.aar6637. eCollection 2018 Aug.

PMID:
30116778
2.

Neurocognition and adaptive functioning in a genetic high risk model of schizophrenia.

Fiksinski AM, Breetvelt EJ, Lee YJ, Boot E, Butcher N, Palmer L, Chow EWC, Kahn RS, Vorstman JAS, Bassett AS.

Psychol Med. 2018 Aug 1:1-8. doi: 10.1017/S0033291718001824. [Epub ahead of print]

PMID:
30064532
3.

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.

Sun D, Ching CRK, Lin A, Forsyth JK, Kushan L, Vajdi A, Jalbrzikowski M, Hansen L, Villalon-Reina JE, Qu X, Jonas RK, van Amelsvoort T, Bakker G, Kates WR, Antshel KM, Fremont W, Campbell LE, McCabe KL, Daly E, Gudbrandsen M, Murphy CM, Murphy D, Craig M, Vorstman J, Fiksinski A, Koops S, Ruparel K, Roalf DR, Gur RE, Schmitt JE, Simon TJ, Goodrich-Hunsaker NJ, Durdle CA, Bassett AS, Chow EWC, Butcher NJ, Vila-Rodriguez F, Doherty J, Cunningham A, van den Bree MBM, Linden DEJ, Moss H, Owen MJ, Murphy KC, McDonald-McGinn DM, Emanuel B, van Erp TGM, Turner JA, Thompson PM, Bearden CE.

Mol Psychiatry. 2018 Jun 13. doi: 10.1038/s41380-018-0078-5. [Epub ahead of print]

PMID:
29895892
4.

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

Butcher NJ, Boot E, Lang AE, Andrade D, Vorstman J, McDonald-McGinn D, Bassett AS.

Am J Med Genet A. 2018 May 19. doi: 10.1002/ajmg.a.38708. [Epub ahead of print]

PMID:
29777584
5.

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 Jun 5;90(23):e2059-e2067. doi: 10.1212/WNL.0000000000005660. Epub 2018 May 11.

6.

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.

Palmer LD, Butcher NJ, Boot E, Hodgkinson KA, Heung T, Chow EWC, Guna A, Crowley TB, Zackai E, McDonald-McGinn DM, Bassett AS.

Am J Med Genet A. 2018 Apr;176(4):936-944. doi: 10.1002/ajmg.a.38645.

PMID:
29575622
7.

Validation of a microRNA target site polymorphism in H3F3B that is potentially associated with a broad schizophrenia phenotype.

Manley W, Moreau MP, Azaro M, Siecinski SK, Davis G, Buyske S, Vieland V, Bassett AS, Brzustowicz L.

PLoS One. 2018 Mar 12;13(3):e0194233. doi: 10.1371/journal.pone.0194233. eCollection 2018.

8.

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

Unolt M, Barry J, Digilio MC, Marino B, Bassett A, Oechslin E, Low DW, Belasco JB, Kallish S, Sullivan K, Zackai EH, McDonald-McGinn DM.

Eur J Med Genet. 2018 Jul;61(7):411-415. doi: 10.1016/j.ejmg.2018.02.006. Epub 2018 Feb 12.

PMID:
29447908
9.

Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.

Buijs PCM, Bassett AS, Boot E.

Am J Med Genet A. 2018 Jan 24. doi: 10.1002/ajmg.a.38612. [Epub ahead of print] Review.

PMID:
29363845
10.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Guo T, Diacou A, Nomaru H, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, Kates WR, Gothelf D, Schneider M, Eliez S, Breckpot J, Swillen A, Vorstman J, Zackai E, Benavides Gonzalez F, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE; International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia.

Hum Mol Genet. 2018 Apr 1;27(7):1150-1163. doi: 10.1093/hmg/ddy028.

PMID:
29361080
11.

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.

Lowther C, Merico D, Costain G, Waserman J, Boyd K, Noor A, Speevak M, Stavropoulos DJ, Wei J, Lionel AC, Marshall CR, Scherer SW, Bassett AS.

Genome Med. 2017 Nov 30;9(1):105. doi: 10.1186/s13073-017-0488-z.

12.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawuła W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE; International 22q11.2 Consortium/Brain and Behavior Consortium*.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001690. doi: 10.1161/CIRCGENETICS.116.001690.

13.

Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?

Lowther C, Costain G, Baribeau DA, Bassett AS.

Curr Psychiatry Rep. 2017 Sep 20;19(11):82. doi: 10.1007/s11920-017-0831-5. Review.

PMID:
28929285
14.

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.

Gur RE, Bassett AS, McDonald-McGinn DM, Bearden CE, Chow E, Emanuel BS, Owen M, Swillen A, Van den Bree M, Vermeesch J, Vorstman JAS, Warren S, Lehner T, Morrow B.

Mol Psychiatry. 2017 Dec;22(12):1664-1672. doi: 10.1038/mp.2017.161. Epub 2017 Aug 1.

PMID:
28761081
15.

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.

16.

The importance of copy number variation in congenital heart disease.

Costain G, Silversides CK, Bassett AS.

NPJ Genom Med. 2016 Sep 14;1:16031. doi: 10.1038/npjgenmed.2016.31.

17.

Copy Number Variation in Tourette Syndrome.

Bassett AS, Scherer SW.

Neuron. 2017 Jun 21;94(6):1041-1043. doi: 10.1016/j.neuron.2017.06.017.

18.

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.

Boot E, Hollak CEM, Huijbregts SCJ, Jahja R, van Vliet D, Nederveen AJ, Nieman DH, Bosch AM, Bour LJ, Bakermans AJ, Abeling NGGM, Bassett AS, van Amelsvoort TAMJ, van Spronsen FJ, Booij J.

Psychol Med. 2017 May 29:1-12. doi: 10.1017/S0033291717001398. [Epub ahead of print]

PMID:
28552082
19.

22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.

Wither RG, Borlot F, MacDonald A, Butcher NJ, Chow EWC, Bassett AS, Andrade DM.

Epilepsia. 2017 Jun;58(6):1095-1101. doi: 10.1111/epi.13748. Epub 2017 Apr 27.

20.

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.

Butcher NJ, Merico D, Zarrei M, Ogura L, Marshall CR, Chow EWC, Lang AE, Scherer SW, Bassett AS.

PLoS One. 2017 Apr 21;12(4):e0173944. doi: 10.1371/journal.pone.0173944. eCollection 2017.

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