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Items: 1 to 20 of 100

1.

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.

Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ.

Am J Med Genet A. 2007 Feb 1;143A(3):265-70. Review.

PMID:
17219392
2.

Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21).

Yelavarthi KK, Zunich J.

Am J Med Genet A. 2004 May 1;126A(4):423-6. Review.

PMID:
15098242
3.

De novo 46,XX, dir dup (11)(q133.3-->q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia.

Legius E, Wlodarska I, Selleri L, Evans GA, Wu R, Smet G, Fryns JP.

Clin Genet. 1996 Apr;49(4):206-10.

PMID:
8828987
4.

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.

Burnside RD, Lose EJ, Domínguez MG, Sánchez-Corona J, Rivera H, Carroll AJ, Mikhail FM.

Am J Med Genet A. 2009 Jul;149A(7):1516-22. doi: 10.1002/ajmg.a.32906.

PMID:
19533774
5.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry.

Chen CP, Su YN, Lin SP, Chern SR, Su JW, Chen YT, Lee MS, Wang W.

Taiwan J Obstet Gynecol. 2013 Mar;52(1):120-4. doi: 10.1016/j.tjog.2013.01.015.

6.

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations.

Delobel B, Delannoy V, Pini G, Zapella M, Tardieu M, Vallée L, Croquette MF.

Am J Med Genet. 1998 Nov 16;80(3):273-80.

PMID:
9843053
7.

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
8.

De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.

Xiao B, Xu H, Ye H, Hu Q, Chen Y, Qiu W.

Am J Med Genet A. 2015 Oct;167A(10):2327-33. doi: 10.1002/ajmg.a.37179. Epub 2015 Jun 10.

PMID:
26061664
9.

A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.

Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W.

Clin Dysmorphol. 2007 Oct;16(4):231-9. Review.

PMID:
17786114
10.

Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings.

Kayhan G, Cavdarli B, Yirmibes Karaoguz M, Percin EF, Oztürk Kaymak A, Biri A, Ergun MA.

Gene. 2013 Jul 25;524(2):355-60. doi: 10.1016/j.gene.2013.04.053. Epub 2013 May 1.

PMID:
23644025
11.

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

Blanc P, Gouas L, Francannet C, Giollant M, Vago P, Goumy C.

Am J Med Genet A. 2008 May 15;146A(10):1307-11. doi: 10.1002/ajmg.a.32278. Review.

PMID:
18384146
12.
13.

An emerging phenotype of proximal 11q deletions.

Melis D, Genesio R, Cozzolino M, Del Giudice E, Mormile A, Imperati F, Ronga V, Della Casa R, Nitsch L, Andria G.

Eur J Med Genet. 2010 Sep-Oct;53(5):340-3. doi: 10.1016/j.ejmg.2010.07.010. Epub 2010 Aug 3.

PMID:
20688202
14.

Chromosome aberrations in atypical chronic lymphocytic leukemia: a cytogenetic and interphase cytogenetic study.

Bigoni R, Cuneo A, Roberti MG, Bardi A, Rigolin GM, Piva N, Scapoli G, Spanedda R, Negrini M, Bullrich F, Veronese ML, Croce CM, Castoldi G.

Leukemia. 1997 Nov;11(11):1933-40.

PMID:
9369429
15.

Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature.

Hertz JM, Tommerup N, Sørensen FB, Henriques UV, Nielsen A, Therkelsen AJ.

Clin Genet. 1995 May;47(5):231-5. Review.

PMID:
7554347
16.

De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.

Wincent J, Schoumans J, Anderlid BM.

Eur J Med Genet. 2010 Jan-Feb;53(1):50-3. doi: 10.1016/j.ejmg.2009.10.003. Epub 2009 Oct 24.

PMID:
19857611
17.

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.

Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR.

Am J Med Genet A. 2006 Dec 15;140(24):2721-9.

PMID:
17103440
18.

Constitutional duplication 11q23 de novo involving the MLL gene.

Partida-Pérez M, Domínguez MG, Sánchez-Corona J, Castañeda-Cisneros G, García-González CL, López-Cardona MG, Rivera H.

Genet Couns. 2006;17(2):155-9.

PMID:
16970032
19.

De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies.

Sawyer JR, Binz RL, Swanson CM, Lim C.

Am J Med Genet A. 2007 Feb 15;143(4):338-42.

PMID:
17230489
20.

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.

Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ.

Clin Genet. 1994 Dec;46(6):423-9. Review.

PMID:
7889659

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