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Items: 1 to 20 of 72


[Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome].

Luo J, Fang D, Qiu W, Xiao B, Fan Y, Ye J, Han L, Zhang H, Yu Y, Liang L, Gu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):361-365. doi: 10.3760/cma.j.issn.1003-9406.2018.03.012. Chinese.


Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.

Kashevarova AA, Belyaeva EO, Nikonov AM, Plotnikova OV, Skryabin NA, Nikitina TV, Vasilyev SA, Yakovleva YS, Babushkina NP, Tolmacheva EN, Lopatkina ME, Savchenko RR, Nazarenko LP, Lebedev IN.

Mol Cytogenet. 2018 Apr 27;11:26. doi: 10.1186/s13039-018-0375-3. eCollection 2018.


Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Kaihui Z, Yan H, Rui D, Yali Y, Ying W, Haiyan Z, Yufeng Z, Zhongtao G, Yi L.

Mol Cytogenet. 2018 Feb 20;11:18. doi: 10.1186/s13039-017-0349-x. eCollection 2018. Erratum in: Mol Cytogenet. 2018 Apr 23;11:25.


Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC.

J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29.


[Application of chromosome microarray analysis for the delineation of pathogenesis for fetal ventriculomegaly].

Li Z, Fu F, Lei T, Li R, Jing X, Yang X, Han J, Pan M, Zhen L, Liao C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):576-582. doi: 10.3760/cma.j.issn.1003-9406.2017.04.024. Chinese.


[Clinical and molecular cytogenetic analysis of a family with mental retardation caused by an unbalanced translocation involving chromosomes 3 and 22].

Zhang K, Dong R, Huang Y, Yang Y, Wang Y, Zhang H, Zhang Y, Liu Y, Gai Z.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):30-34. doi: 10.3760/cma.j.issn.1003-9406.2017.01.007. Chinese.


Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder.

Chen CH, Chen HI, Liao HM, Chen YJ, Fang JS, Lee KF, Gau SS.

Psychiatr Genet. 2017 Feb;27(1):23-33. doi: 10.1097/YPG.0000000000000151.


Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.

Peterson JF, Bick DP, Geddes GC, McCarrier J, Grignon JW Jr, Chirempes B, Broeckel U, Abidi F, Rogers RC, Boccuto L, DuPont B, vanTuinen P.

Am J Med Genet A. 2016 Dec;170(12):3348-3351. doi: 10.1002/ajmg.a.37939. Epub 2016 Aug 23. No abstract available.


Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

Breckpot J, Vercruyssen M, Weyts E, Vandevoort S, D'Haenens G, Van Buggenhout G, Leempoels L, Brischoux-Boucher E, Van Maldergem L, Renieri A, Mencarelli MA, D'Angelo C, Mericq V, Hoffer MJ, Tauber M, Molinas C, Castiglioni C, Brison N, Vermeesch JR, Danckaerts M, Sienaert P, Devriendt K, Vogels A.

Eur J Med Genet. 2016 Sep;59(9):436-43. doi: 10.1016/j.ejmg.2016.08.003. Epub 2016 Aug 9.


Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication.

Giannakopoulos A, Fryssira H, Tzetis M, Xaidara A, Kanaka-Gantenbein C.

J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1307-1311. doi: 10.1515/jpem-2015-0484.


A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21.

Zou PS, Li HF, Chen LS, Ma M, Chen XH, Xue D, Cao DH.

Genet Mol Res. 2016 May 9;15(2). doi: 10.4238/gmr.15028140.


Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.

Liu HY, Huang J, Li T, Wu D, Wang HD, Wang Y, Wang T, Guo LJ, Guo QN, Huang FF, Wang RL, Wang YT.

Mol Cytogenet. 2016 Apr 19;9:31. doi: 10.1186/s13039-016-0244-x. eCollection 2016.


Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.

Fu F, Chen F, Li R, Zhang Y, Pan M, Li D, Liao C.

Nephrol Dial Transplant. 2016 Oct;31(10):1693-8. doi: 10.1093/ndt/gfv465. Epub 2016 Feb 29.


Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.

Zhang J, Ma D, Wang Y, Cao L, Wu Y, Qiao F, Liu A, Li L, Lin Y, Liu G, Liu C, Hu P, Xu Z.

Mol Cytogenet. 2015 Dec 29;8:100. doi: 10.1186/s13039-015-0209-5. eCollection 2015.


Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.

Fontes MI, Santos AP, Molck MC, Simioni M, Nascimento DL, Andrade AK, Rosenberg C, Krepischi AC, Appenzeller S, MonlleĆ³ IL, Gil-da-Silva-Lopes VL.

Am J Med Genet A. 2016 Mar;170(3):766-72. doi: 10.1002/ajmg.a.37494. Epub 2015 Dec 7. Review.


Novel Therapeutic Approach for Autism Spectrum Disorder: Focus on SHANK3.

Uchino S, Waga C.

Curr Neuropharmacol. 2015;13(6):786-92. Review.


SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Magri C, Marchina E, Bertini V, Traversa M, Savio G, Pilotta A, Piovani G.

BMC Med Genet. 2015 Jul 7;16:47. doi: 10.1186/s12881-015-0193-y.


SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.

Han K, Holder JL Jr, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HY.

Nature. 2013 Nov 7;503(7474):72-7. doi: 10.1038/nature12630. Epub 2013 Oct 23.


The genetic landscape of autism spectrum disorders.

Rosti RO, Sadek AA, Vaux KK, Gleeson JG.

Dev Med Child Neurol. 2014 Jan;56(1):12-8. doi: 10.1111/dmcn.12278. Epub 2013 Oct 1. Review.

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