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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: frisch 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.
Genotype-phenotype correlation in 22q11.2 deletion syndrome.
Michaelovsky E, Frisch A, Carmel M, Patya M, Zarchi O, Green T, Basel-Vanagaite L, Weizman A, Gothelf D. Michaelovsky E, et al. Among authors: frisch a. BMC Med Genet. 2012 Dec 17;13:122. doi: 10.1186/1471-2350-13-122. BMC Med Genet. 2012. PMID: 23245648 Free PMC article.
Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome.
Gothelf D, Law AJ, Frisch A, Chen J, Zarchi O, Michaelovsky E, Ren-Patterson R, Lipska BK, Carmel M, Kolachana B, Weizman A, Weinberger DR. Gothelf D, et al. Among authors: frisch a. Biol Psychiatry. 2014 Mar 1;75(5):406-13. doi: 10.1016/j.biopsych.2013.07.021. Epub 2013 Aug 28. Biol Psychiatry. 2014. PMID: 23992923 Free PMC article.
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome.
Gothelf D, Presburger G, Zohar AH, Burg M, Nahmani A, Frydman M, Shohat M, Inbar D, Aviram-Goldring A, Yeshaya J, Steinberg T, Finkelstein Y, Frisch A, Weizman A, Apter A. Gothelf D, et al. Among authors: frisch a. Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):99-105. doi: 10.1002/ajmg.b.20124. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15048657
A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes.
Zarchi O, Diamond A, Weinberger R, Abbott D, Carmel M, Frisch A, Michaelovsky E, Gruber R, Green T, Weizman A, Gothelf D. Zarchi O, et al. Among authors: frisch a. Eur Psychiatry. 2014 May;29(4):203-10. doi: 10.1016/j.eurpsy.2013.07.001. Epub 2013 Sep 17. Eur Psychiatry. 2014. PMID: 24054518
303 results