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Items: 1 to 20 of 137

1.

Familial whole-arm translocations (1;19), (9;13), and (12;21): a review of 101 constitutional exchanges.

Vázquez-Cárdenas A, Vásquez-Velásquez AI, Barros-Núñez P, Mantilla-Capacho J, Rocchi M, Rivera H.

J Appl Genet. 2007;48(3):261-8.

PMID:
17666779
2.

A 45,X sterile male with Yp disguised as 21p.

Dávalos IP, Rivera H, Vásquez AI, Gutiérrez-Angulo M, Hernández-Vázquez MC, Cortina-Luna FA, Wong-Ley LE, Domínguez-Quezada MG.

Am J Med Genet. 2002 Aug 1;111(2):202-4.

PMID:
12210351
3.

Unbalanced 1q whole-arm translocation resulting in der(14)t(1;14)(q11-12;p11) in myelodysplastic syndrome.

Fogu G, Campus PM, Cambosu F, Moro MA, Sanna R, Fozza C, Nieddu RM, Longinotti M, Montella A.

Cytogenet Genome Res. 2012;136(4):256-63. doi: 10.1159/000338437. Epub 2012 May 10. Review.

PMID:
22571950
4.

Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p).

Petit P, Devriendt K, Vermeesch JR, Meireleire J, Fryns JP.

Genet Couns. 1998;9(3):215-21.

PMID:
9777345
5.

Centromere-telomere (12;8p) fusion, telomeric 12q translocation, and i(12p) trisomy.

Rivera H, Vásquez AI, Perea FJ.

Clin Genet. 1999 Feb;55(2):122-6.

PMID:
10189090
6.
7.
8.

Molecular characterization of the recurrent unbalanced translocation der(1;7)(q10;p10).

Wang L, Ogawa S, Hangaishi A, Qiao Y, Hosoya N, Nanya Y, Ohyashiki K, Mizoguchi H, Hirai H.

Blood. 2003 Oct 1;102(7):2597-604. Epub 2003 Jun 19.

9.

Fusion of 9 beta-satellite and telomere (TTAGGG)n sequences results in a jumping translocation.

Reddy KS, Murphy T.

Hum Genet. 2000 Sep;107(3):268-75. Review.

PMID:
11071389
10.

A 9p13-->p24 duplication coupled with a whole 22q translocation onto 9p24.

Rivera H, Vásquez-Velásquez AI, Ramirez-Duenas Mde L, Becerra-Solano LE.

J Appl Genet. 2007;48(1):95-8.

PMID:
17272869
11.

Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization.

Gravholt CH, Friedrich U, Caprani M, Jørgensen AL.

Genomics. 1992 Dec;14(4):924-30.

PMID:
1478673
12.

Application of fluorescence in situ hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectively.

Kølvraa S, Koch J, Gregersen N, Jensen PK, Jørgensen AL, Petersen KB, Rasmussen K, Bolund L.

Clin Genet. 1991 Apr;39(4):278-86. Erratum in: Clin Genet 1991 Dec;40(6):474-5.

PMID:
1829987
13.

A further whole arm 1;19 translocation with alpha-satellite DNA breakage.

Diaz-Castaños L, Rivera H, Perez-Garcia G, Dos Santos E, Malet P.

Genet Couns. 1997;8(1):33-8.

PMID:
9101276
14.

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring.

Soler A, Sánchez A, Carrió A, Badenas C, Milà M, Margarit E, Borrell A.

Am J Med Genet A. 2005 Apr 30;134(3):309-14. Review.

PMID:
15732062
15.

Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.

Lassota M, Przełozna B, Płodzien M, Bugno M, Wnuk M, Kotylak Z, Słota E.

J Appl Genet. 2005;46(4):419-21.

PMID:
16278518
16.

Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis.

Stone D, Ning Y, Guan XY, Kaiser-Kupfer M, Wynshaw-Boris A, Biesecker L.

Hum Genet. 1996 Oct;98(4):396-402.

PMID:
8792811
17.

A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities.

Cockwell AE, Jacobs PA, Beal SJ, Crolla JA.

Hum Genet. 2003 Mar;112(3):298-302. Epub 2003 Jan 8.

PMID:
12596054
18.

[Study of alpha-satellite DNA in cosmid libraries, specific for chromosomes 13, 21, and 22, using fluorescence in situ hybridization].

Solov'ev IV, Iurov IuB, Vorsanova SG, Marcais B, Rogaev EI, Kapanadze BI, Brodianskiĭ VM, Iankovskiĭ NK, Roizes G.

Genetika. 1998 Nov;34(11):1470-9. Russian.

PMID:
10096024
20.

Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14).

Chen E, Choe MA, Loughman WD, Covert S, Bitts S, Rowe A, Beischel L, Johnson JP.

Am J Med Genet A. 2005 Jan 15;132A(2):164-70.

PMID:
15551340

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