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Genomic disorders on chromosome 22.
Yu S, Graf WD, Shprintzen RJ. Yu S, et al. Among authors: shprintzen rj. Curr Opin Pediatr. 2012 Dec;24(6):665-71. doi: 10.1097/MOP.0b013e328358acd0. Curr Opin Pediatr. 2012. PMID: 23111679 Review.
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.
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK, et al. Karayiorgou M, et al. Among authors: shprintzen rj. Proc Natl Acad Sci U S A. 1995 Aug 15;92(17):7612-6. doi: 10.1073/pnas.92.17.7612. Proc Natl Acad Sci U S A. 1995. PMID: 7644464 Free PMC article.
A common molecular basis for rearrangement disorders on chromosome 22q11.
Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE. Edelmann L, et al. Among authors: shprintzen rj. Hum Mol Genet. 1999 Jul;8(7):1157-67. doi: 10.1093/hmg/8.7.1157. Hum Mol Genet. 1999. PMID: 10369860
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.
Defining the clinical spectrum of deletion 22q11.2.
Robin NH, Shprintzen RJ. Robin NH, et al. Among authors: shprintzen rj. J Pediatr. 2005 Jul;147(1):90-6. doi: 10.1016/j.jpeds.2005.03.007. J Pediatr. 2005. PMID: 16027702 No abstract available.
145 results