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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: kates wr. 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.
Velo-cardio-facial syndrome.
Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Shprintzen RJ, et al. Curr Opin Pediatr. 2005 Dec;17(6):725-30. doi: 10.1097/01.mop.0000184465.73833.0b. Curr Opin Pediatr. 2005. PMID: 16282778 Review.
Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).
Antshel KM, Aneja A, Strunge L, Peebles J, Fremont WP, Stallone K, Abdulsabur N, Higgins AM, Shprintzen RJ, Kates WR. Antshel KM, et al. Among authors: kates wr. J Autism Dev Disord. 2007 Oct;37(9):1776-86. doi: 10.1007/s10803-006-0308-6. Epub 2006 Dec 19. J Autism Dev Disord. 2007. PMID: 17180713
Temperament in velocardiofacial syndrome.
Antshel KM, Stallone K, Abdulsabur N, Shprintzen R, Roizen N, Higgins AM, Kates WR. Antshel KM, et al. Among authors: kates wr. J Intellect Disabil Res. 2007 Mar;51(Pt 3):218-27. doi: 10.1111/j.1365-2788.2006.00859.x. J Intellect Disabil Res. 2007. PMID: 17300417
129 results