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Items: 1 to 20 of 92

1.

Microduplication of 3p26.3 implicated in cognitive development.

Te Weehi L, Maikoo R, Mc Cormack A, Mazzaschi R, Ashton F, Zhang L, George AM, Love DR.

Case Rep Genet. 2014;2014:295359. doi: 10.1155/2014/295359. Epub 2014 Feb 13.

2.

Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.

Li C, Liu C, Zhou B, Hu C, Xu X.

Mol Cytogenet. 2016 Jun 27;9:51. doi: 10.1186/s13039-016-0261-9. eCollection 2016.

3.

Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.

Shoukier M, Fuchs S, Schwaibold E, Lingen M, Gärtner J, Brockmann K, Zirn B.

Neuropediatrics. 2013 Oct;44(5):268-71. doi: 10.1055/s-0033-1333874. Epub 2013 Feb 22.

PMID:
23436495
4.

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

Kashevarova AA, Nazarenko LP, Schultz-Pedersen S, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Rudko AA, Magini P, Graziano C, Romeo G, Joss S, Tümer Z, Lebedev IN.

Mol Cytogenet. 2014 Dec 31;7(1):97. doi: 10.1186/s13039-014-0097-0. eCollection 2014.

5.

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Palumbo O, Fischetto R, Palumbo P, Nicastro F, Papadia F, Zelante L, Carella M.

Mol Cytogenet. 2015 Aug 16;8:66. doi: 10.1186/s13039-015-0170-3. eCollection 2015.

6.

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.

Cuoco C, Ronchetto P, Gimelli S, Béna F, Divizia MT, Lerone M, Mirabelli-Badenier M, Mascaretti M, Gimelli G.

Orphanet J Rare Dis. 2011 Apr 1;6:12. doi: 10.1186/1750-1172-6-12.

7.

Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer.

Manderson EN, Birch AH, Shen Z, Mes-Masson AM, Provencher D, Tonin PN.

Int J Gynecol Cancer. 2009 May;19(4):513-25. doi: 10.1111/IGC.0b013e3181a3cd38.

PMID:
19509545
8.

Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay.

Mazzaschi RL, Ashton F, Aftimos S, George AM, Love DR.

Sultan Qaboos Univ Med J. 2013 May;13(2):306-10. Epub 2013 May 9.

9.

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

Frints SG, Marynen P, Hartmann D, Fryns JP, Steyaert J, Schachner M, Rolf B, Craessaerts K, Snellinx A, Hollanders K, D'Hooge R, De Deyn PP, Froyen G.

Hum Mol Genet. 2003 Jul 1;12(13):1463-74.

10.

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Novara F, Alfei E, D'Arrigo S, Pantaleoni C, Beri S, Achille V, Sciacca FL, Giorda R, Zuffardi O, Ciccone R.

Eur J Med Genet. 2013 Jan;56(1):54-8. doi: 10.1016/j.ejmg.2012.10.002. Epub 2012 Oct 18.

PMID:
23085304
11.

Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.

Soysal Y, Vermeesch J, Davani NA, Şensoy N, Hekimler K, İmirzalıoğlu N.

Genet Mol Res. 2011 Sep 21;10(3):2148-54. doi: 10.4238/vol10-3gmr1339.

12.

Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype.

Engelen JJ, Moog U, Weber J, Haagen AA, van Uum CM, Hamers AJ.

Am J Med Genet A. 2003 Jun 15;119A(3):356-9.

PMID:
12784305
13.

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.

Zheng Z, Yao RE, Geng J, Jin X, Shen Y, Ying D, Fu Q, Yu Y.

Gene. 2013 Mar 10;516(2):301-6. doi: 10.1016/j.gene.2012.12.090. Epub 2013 Jan 4.

PMID:
23296059
14.

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.

Weisfeld-Adams JD, Edelmann L, Gadi IK, Mehta L.

Eur J Med Genet. 2012 Dec;55(12):732-6. doi: 10.1016/j.ejmg.2012.08.011. Epub 2012 Oct 9.

PMID:
23059467
15.

Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.

Carmany EP, Bawle EV.

Am J Med Genet A. 2011 Apr;155A(4):819-24. doi: 10.1002/ajmg.a.33916. Epub 2011 Mar 15.

PMID:
21412978
16.

335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.

Alesi V, Bertoli M, Barrano G, Torres B, Pusceddu S, Pastorino M, Perria C, Nardone AM, Novelli A, Serra G.

Gene. 2012 Sep 1;505(2):384-7. doi: 10.1016/j.gene.2012.05.031. Epub 2012 May 24.

PMID:
22634100
17.

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

Draaken M, Mughal SS, Pennimpede T, Wolter S, Wittler L, Ebert AK, Rösch W, Stein R, Bartels E, Schmidt D, Boemers TM, Schmiedeke E, Hoffmann P, Moebus S, Herrmann BG, Nöthen MM, Reutter H, Ludwig M.

Birth Defects Res A Clin Mol Teratol. 2013 Mar;97(3):133-9. doi: 10.1002/bdra.23112. Epub 2013 Jan 29.

PMID:
23359465
18.

Partial trisomy 3p and partial monosomy 11q associated with atrial septal defect, cleft palate, and developmental delay: a case report.

Tan EC, Lim E, Cham B, Knight L, Ng I.

Cytogenet Genome Res. 2011;134(4):319-24. doi: 10.1159/000328835. Epub 2011 Jun 3.

PMID:
21654159
19.

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

Dupont C, Lebbar A, Teinturier C, Baverel F, Viot G, Le Tessier D, Le Bozec J, Cuisset L, Dupont JM.

Am J Med Genet A. 2007 Jun 1;143A(11):1236-43.

PMID:
17497716
20.
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