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Page 1
A normative chart for cognitive development in a genetically selected population.
Fiksinski AM, Bearden CE, Bassett AS, Kahn RS, Zinkstok JR, Hooper SR, Tempelaar W, McDonald-McGinn D, Swillen A, Emanuel B, Morrow B, Gur R, Chow E, van den Bree M, Vermeesch J, Warren S, Owen M, van Amelsvoort T, Eliez S, Gothelf D, Arango C, Kates W, Simon T, Murphy K, Repetto G, Suner DH, Vicari S, Cubells J, Armando M, Philip N, Campbell L, Garcia-Minaur S, Schneider M, Shashi V; 22q11DS International Consortium on Brain and Behavior; Vorstman J, Breetvelt EJ. Fiksinski AM, et al. Among authors: swillen a. Neuropsychopharmacology. 2022 Jun;47(7):1379-1386. doi: 10.1038/s41386-021-00988-6. Epub 2021 Mar 29. Neuropsychopharmacology. 2022. PMID: 33782512 Free PMC article.
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gérard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D. Raux G, et al. Among authors: swillen a. Hum Mol Genet. 2007 Jan 1;16(1):83-91. doi: 10.1093/hmg/ddl443. Epub 2006 Nov 29. Hum Mol Genet. 2007. PMID: 17135275
Laterality preference and cognition: cross-syndrome comparison of patients with trisomy 21 (Down), del7q11.23 (Williams-Beuren) and del22q11.2 (DiGeorge or Velo-Cardio-Facial) syndromes.
Carlier M, Desplanches AG, Philip N, Stefanini S, Vicari S, Volterra V, Deruelle C, Fisch G, Doyen AL, Swillen A. Carlier M, et al. Among authors: swillen a. Behav Genet. 2011 May;41(3):413-22. doi: 10.1007/s10519-011-9465-2. Epub 2011 Apr 1. Behav Genet. 2011. PMID: 21455680
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium. Bassett AS, et al. Among authors: swillen a. J Pediatr. 2011 Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12. J Pediatr. 2011. PMID: 21570089 Free PMC article. No abstract available.
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; International Chromosome 22q11.2 Consortium. Guo T, et al. Among authors: swillen a. Hum Mutat. 2011 Nov;32(11):1278-89. doi: 10.1002/humu.21568. Epub 2011 Sep 16. Hum Mutat. 2011. PMID: 21796729 Free PMC article.
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium. Herman SB, et al. Among authors: swillen a. Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3. Am J Med Genet A. 2012. PMID: 23034814 Free PMC article.
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE. Delio M, et al. Among authors: swillen a. Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453669 Free PMC article.
138 results