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Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium. Bassett AS, et al. Among authors: busa t. Am J Psychiatry. 2017 Nov 1;174(11):1054-1063. doi: 10.1176/appi.ajp.2017.16121417. Epub 2017 Jul 28. Am J Psychiatry. 2017. PMID: 28750581 Free PMC article.
H syndrome: novel and recurrent mutations in SLC29A3.
Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A. Priya TP, et al. Among authors: busa t. Br J Dermatol. 2010 May;162(5):1132-4. doi: 10.1111/j.1365-2133.2010.09653.x. Epub 2010 Feb 25. Br J Dermatol. 2010. PMID: 20199539
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: busa t. 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.
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.
Popovici C, Busa T, Missirian C, Milh M, Moncla A, Philip N. Popovici C, et al. Among authors: busa t. Eur J Med Genet. 2013 May;56(5):274-7. doi: 10.1016/j.ejmg.2013.02.005. Epub 2013 Feb 27. Eur J Med Genet. 2013. PMID: 23454271 Free article.
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L. Mignon-Ravix C, et al. Among authors: busa t. Am J Med Genet A. 2014 Aug;164A(8):1991-7. doi: 10.1002/ajmg.a.36602. Epub 2014 May 9. Am J Med Genet A. 2014. PMID: 24817631
Whole ARX gene duplication is compatible with normal intellectual development.
Popovici C, Busa T, Boute O, Thuresson AC, Perret O, Sigaudy S, Södergren T, Andrieux J, Moncla A, Philip N. Popovici C, et al. Among authors: busa t. Am J Med Genet A. 2014 Sep;164A(9):2324-7. doi: 10.1002/ajmg.a.36564. Epub 2014 Jul 7. Am J Med Genet A. 2014. PMID: 25044608
Prenatal findings in cardio-facio-cutaneous syndrome.
Templin L, Baumann C, Busa T, Heckenroth H, Pouvreau N, Toutain A, Cave H, Verloes A, Sigaudy S, Philip N. Templin L, et al. Among authors: busa t. Am J Med Genet A. 2016 Feb;170A(2):441-445. doi: 10.1002/ajmg.a.37420. Epub 2015 Oct 22. Am J Med Genet A. 2016. PMID: 26494162
85 results