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Items: 1 to 20 of 338

1.

De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.

Cappellacci S, Martinelli S, Rinaldi R, Martinelli E, Parisi P, Mancini B, Pescosolido R, Grammatico P.

Am J Med Genet A. 2006 Jun 1;140(11):1203-7.

PMID:
16652357
2.

Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.

Doco-Fenzy M, Mauran P, Lebrun JM, Bock S, Bednarek N, Struski S, Albuisson J, Ardalan A, Collot N, Schneider A, Dastot-Le Moal F, Gaillard D, Goossens M.

Am J Med Genet A. 2006 Feb 1;140(3):212-21.

PMID:
16411218
3.

Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype.

Rinaldi R, De Bernardo C, Assumma M, Grammatico B, Buffone E, Poscente M, Grammatico P.

Am J Med Genet A. 2003 Apr 15;118A(2):122-6. Review.

PMID:
12655492
4.
6.

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.

Am J Med Genet A. 2005 Oct 1;138A(2):175-80. Review.

PMID:
16152635
7.

First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH.

Bhat M, Morrison PJ, Getty A, McManus D, Tubman R, Nevin NC.

Am J Med Genet. 2000 Mar 20;91(3):201-3.

PMID:
10756343
8.

Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region.

Meins M, Hagh JK, Gerresheim F, Einhoff E, Olschewski H, Strehl H, Epplen JT.

Am J Med Genet A. 2005 Jan 1;132A(1):84-9.

PMID:
15551338
9.

Duplication within chromosome 5q characterized by fluorescence in situ hybridization.

Mowat D, Jauch A, Robson L, Smith A.

Am J Med Genet. 1999 Apr 23;83(5):361-4.

PMID:
10232743
10.

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
11.

De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH.

Sanchez-Garcia JF, de Die-Smulders CE, Weber JW, Jetten AG, Loneus WH, Hamers AJ, Engelen JJ.

Am J Med Genet. 2001 Apr 15;100(1):56-61. Review.

PMID:
11337750
12.

Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).

Cervera M, Sánchez S, Molina B, Alcántara MA, Del Castillo V, Carnevale A, González-del Angel A.

Am J Med Genet A. 2005 Aug 1;136A(4):381-5. Review.

PMID:
16001443
13.

Nonmosaic smallest duplication of 12q24.31-qter: the first reported case.

Ireland JW, Jalal SM, McGrann PS, Lindor NM.

Am J Med Genet A. 2004 Jul 30;128A(3):305-10.

PMID:
15216553
14.

De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon.

Tekin M, Jackson-Cook C, Pandya A.

Am J Med Genet. 2001 Nov 15;104(1):42-6. Review.

PMID:
11746026
15.

Pure subtelomeric microduplications as a cause of mental retardation.

Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB.

Clin Genet. 2007 Oct;72(4):362-8.

PMID:
17850634
16.

Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: a recognizable syndrome.

Mathijssen IB, Hoovers JM, Mul AN, Man HY, Ket JL, Hennekam RC.

Am J Med Genet A. 2005 Jul 1;136(1):76-80.

PMID:
15889415
17.

Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome.

Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK.

Hum Genet. 1999 Sep;105(3):273-80.

PMID:
10987657
18.

Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation.

de Ravel TJ, Fryns JP, Van Driessche J, Vermeesch JR.

Am J Med Genet A. 2004 Jan 30;124A(3):259-62.

PMID:
14708098
19.

De novo direct duplication of 15q15-->q24 in a newborn boy with mild manifestations.

Han JY, Kim KH, Lee HD, Moon SY, Shaffer LG.

Am J Med Genet. 1999 Dec 22;87(5):395-8.

PMID:
10594877
20.

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

Sanlaville D, Baumann C, Lapierre JM, Romana S, Collot N, Cacheux V, Turleau C, Tachdjian G.

Am J Med Genet. 1999 Mar 12;83(2):125-31. Review.

PMID:
10190483
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