The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes-Reference-Cited by-同舟云学术

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The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes

Published:2014-10-03 Issue:1 Volume:7 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Xu Fang,Zhang Ya-Nan,Cheng De-Hua,Tan Ke,Zhong Chang-Gao,Lu Guang-Xiu,Lin Ge,Tan Yue-Qiu

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-014-0064-9.pdf

Reference21 articles.

1. Moreno-De-Luca D, Cubells JF: Copy number variants: a new molecular frontier in clinical psychiatry. Curr Psychiatry Rep 2011, 13: 129–137. 10.1007/s11920-011-0183-5

2. Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, et al.: Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 2012, 367: 1321–1331. 10.1056/NEJMoa1200395

3. Gajecka M, Mackay KL, Shaffer LG: Monosomy 1p36 deletion syndrome. Am J Med Genet C: Semin Med Genet 2007, 145C: 346–356. 10.1002/ajmg.c.30154

4. Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC: Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008, 121: 404–410. 10.1542/peds.2007-0929

5. Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M, Kitsiou-Tzeli S, Kanavakis E: Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype. Gene 2012, 506: 360–368. 10.1016/j.gene.2012.06.060

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