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Page 1
Velo-Cardio-Facial Syndrome.
Gothelf D, Frisch A, Michaelovsky E, Weizman A, Shprintzen RJ. Gothelf D, et al. Among authors: shprintzen rj. J Ment Health Res Intellect Disabil. 2009 Apr;2(2):149-167. doi: 10.1080/19315860902756136. J Ment Health Res Intellect Disabil. 2009. PMID: 20111667 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: shprintzen rj. 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.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium; Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE. Zhao Y, et al. Among authors: shprintzen rj. Am J Hum Genet. 2020 Jan 2;106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20. Am J Hum Genet. 2020. PMID: 31870554 Free PMC article.
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn DM, Crowley TB, Diacou A, Schneider M, Eliez S, Swillen A, Breckpot J, Vermeesch J, Chow EWC, Gothelf D, Duijff S, Evers R, van Amelsvoort TA, van den Bree M, Owen M, Niarchou M, Bearden CE, Ornstein C, Pontillo M, Buzzanca A, Vicari S, Armando M, Murphy KC, Murphy C, Garcia-Minaur S, Philip N, Campbell L, Morey-Cañellas J, Raventos J, Rosell J, Heine-Suner D, Shprintzen RJ, Gur RE, Zackai E, Emanuel BS, Wang T, Kates WR, Bassett AS, Vorstman JAS, Morrow BE; International 22q11.2 Brain and Behavior Consortium. Zhao Y, et al. Among authors: shprintzen rj. Am J Med Genet A. 2018 Oct;176(10):2172-2181. doi: 10.1002/ajmg.a.40359. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289625 Free PMC article.
Velo-cardio-facial syndrome: 30 Years of study.
Shprintzen RJ. Shprintzen RJ. Dev Disabil Res Rev. 2008;14(1):3-10. doi: 10.1002/ddrr.2. Dev Disabil Res Rev. 2008. PMID: 18636631 Free PMC article. Review.
The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI study.
Coman IL, Gnirke MH, Middleton FA, Antshel KM, Fremont W, Higgins AM, Shprintzen RJ, Kates WR. Coman IL, et al. Among authors: shprintzen rj. Neuroimage. 2010 Nov 15;53(3):1043-50. doi: 10.1016/j.neuroimage.2010.01.094. Epub 2010 Feb 1. Neuroimage. 2010. PMID: 20123031 Free PMC article.
A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome).
Kates WR, Antshel KM, Abdulsabur N, Colgan D, Funke B, Fremont W, Higgins AM, Kucherlapati R, Shprintzen RJ. Kates WR, et al. Among authors: shprintzen rj. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):274-80. doi: 10.1002/ajmg.b.30284. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16511839 Free PMC article.
Temperament in velocardiofacial syndrome.
Antshel KM, Stallone K, Abdulsabur N, Shprintzen R, Roizen N, Higgins AM, Kates WR. Antshel KM, et al. 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
Catatonia in an adolescent with velo-cardio-facial syndrome.
Faedda GL, Wachtel LE, Higgins AM, Shprintzen RJ. Faedda GL, et al. Among authors: shprintzen rj. Am J Med Genet A. 2015 Sep;167A(9):2150-3. doi: 10.1002/ajmg.a.37087. Epub 2015 Apr 1. Am J Med Genet A. 2015. PMID: 25832449
147 results