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Items: 1 to 20 of 139

1.

An Xp21.3p11.4 duplication observed in a boy with intellectual deficiency and speech delay and his asymptomatic mother.

Wu L, Liu J, Lv W, Wen J, Xia Y, Liang D.

Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):467-70. doi: 10.1002/bdra.23118. Epub 2013 Jul 4.

PMID:
23828844
2.

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.

El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.

J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8.

3.

Brief report. Adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation.

Deng L, Peng Y, Liu J, Wen J, Xia Y, Liang D, Wu L.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):294-9. doi: 10.1002/bdra.23215. Epub 2014 Mar 26. Review.

PMID:
24668944
4.

Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.

Li Z, Liu J, Li H, Peng Y, Lv W, Long Z, Liang D, Wu L.

Gene. 2013 Dec 1;531(2):502-5. doi: 10.1016/j.gene.2013.09.006. Epub 2013 Sep 12. Review.

PMID:
24035902
5.

Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.

Yingjun X, Wen T, Yujian L, Lingling X, Huimin H, Qun F, Junhong C.

Eur J Med Genet. 2015 Feb;58(2):116-21. doi: 10.1016/j.ejmg.2014.10.002. Epub 2014 Oct 24.

PMID:
25450604
6.

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.

Schönewolf-Greulich B, Ravn K, Hamborg-Petersen B, Brøndum-Nielsen K, Tümer Z.

Am J Med Genet A. 2013 Sep;161A(9):2358-62. doi: 10.1002/ajmg.a.36099. Epub 2013 Jul 25.

PMID:
23894085
7.

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.

Thorson L, Bryke C, Rice G, Artzer A, Schilz C, Israel J, Huber S, Laffin J, Raca G.

Am J Med Genet A. 2010 Apr;152A(4):904-15. doi: 10.1002/ajmg.a.33340.

PMID:
20358600
8.

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.

Am J Med Genet A. 2005 Sep 15;138(1):11-7.

PMID:
16097007
9.
10.

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.

Lin DS, Chuang TP, Chiang MF, Ho CS, Hsiao CD, Huang YW, Wu TY, Wu JY, Chen YT, Chen TC, Li LH.

Gene. 2014 Jan 1;533(1):78-85. doi: 10.1016/j.gene.2013.10.001. Epub 2013 Oct 12.

PMID:
24129071
11.

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H.

Am J Med Genet A. 2006 Mar 15;140(6):604-10.

PMID:
16470742
12.

A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.

Cao Q, Peng Y, Ge J, Zhang Y, Zhu J, Zhao L.

J Genet. 2014 Apr;93(1):159-62. No abstract available.

13.

Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability.

Tyson C, Dawson AJ, Bal S, Tomiuk M, Anderson T, Tucker D, Riordan D, Chudoba I, Morash B, Mhanni A, Chudley AE, McGillivray B, Parslow M, Rappold G, Roeth R, Fawcett C, Qiao Y, Harvard C, Rajcan-Separovic E.

Am J Med Genet A. 2009 Mar;149A(3):490-5. doi: 10.1002/ajmg.a.32535.

PMID:
19213034
14.

Molecular genetic analysis of a patient with moderate hemophilia A and psychomotor developmental delay.

Gothwal M, Nakamura L, Hainmann I, Koehler U, Schilling F, Rost S, Oldenburg J, Zieger B.

Klin Padiatr. 2013 May;225(3):175-6. doi: 10.1055/s-0033-1341490. Epub 2013 May 24. No abstract available.

PMID:
23709133
15.

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.

Melichar VO, Guth S, Hellebrand H, Meindl A, von der Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M.

Am J Med Genet A. 2007 Jan 15;143A(2):135-41.

PMID:
17163525
16.

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA.

Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. doi: 10.1016/j.ejmg.2010.01.004. Epub 2010 Feb 2.

PMID:
20132918
17.

A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.

Sismani C, Donoghue J, Alexandrou A, Karkaletsi M, Christopoulou S, Konstantinidou AE, Livanos P, Patsalis PC, Velissariou V.

Gene. 2013 Nov 1;530(1):138-42. doi: 10.1016/j.gene.2013.08.032. Epub 2013 Aug 22.

PMID:
23973723
18.

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding.

Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S.

Cytogenet Genome Res. 2005;111(2):171-4.

PMID:
16103660
19.

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O.

Eur J Hum Genet. 2008 Aug;16(8):880-7. doi: 10.1038/ejhg.2008.42. Epub 2008 Mar 12.

20.

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