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Items: 1 to 20 of 167

1.

[Cytogenetic and molecular genetic study of a case with 8p inverted duplication deletion syndrome].

Han X, Zhang JM, Jiang WT, Hu Q, Tao J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):361-6. doi: 10.3760/cma.j.issn.1003-9406.2010.04.001. Chinese.

PMID:
20677137
3.
4.

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.

Barber JC, James RS, Patch C, Temple IK.

Am J Med Genet. 1994 Apr 15;50(3):296-9.

PMID:
8042676
5.

A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings.

Van Buggenhout G, Maas NM, Fryns JP, Vermeesch JR.

Am J Med Genet A. 2004 Dec 1;131(2):186-9.

PMID:
15523640
6.

Molecular and cytogenetic characterization of 9p- abnormalities.

Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, Yang-Feng TL.

Am J Med Genet. 1993 May 15;46(3):288-92.

PMID:
8488873
7.

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).

Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB.

Am J Med Genet. 2002 Mar 15;108(3):192-7. Review.

PMID:
11891684
8.

Unusual 8p inverted duplication deletion with telomere capture from 8q.

Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B.

Eur J Med Genet. 2009 Jan-Feb;52(1):31-6. doi: 10.1016/j.ejmg.2008.10.007.

PMID:
19041960
9.
10.

[Inverted duplication of the short arm of chromosome 8].

Rodríguez Martínez L, Jiménez Muñoz-Delgado N, Nieto C, Martínez Carrascal A, López Grondona F, Martínez Frías ML.

An Esp Pediatr. 2001 Nov;55(5):458-62. Spanish.

PMID:
11696311
11.

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
12.

Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.

Sireteanu A, Braha E, Popescu R, Gramescu M, Gorduza EV, Rusu C.

Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):731-4.

PMID:
24502041
13.

The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature.

Pabst B, Arslan-Kirchner M, Schmidtke J, Miller K.

Cytogenet Genome Res. 2003;103(1-2):3-7. Review.

PMID:
15004455
14.

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
15.

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K.

Eur J Hum Genet. 2007 May;15(5):548-55.

16.

Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-.

Mallo M, Arenillas L, Espinet B, Salido M, Hernández JM, Lumbreras E, del Rey M, Arranz E, Ramiro S, Font P, González O, Renedo M, Cervera J, Such E, Sanz GF, Luño E, Sanzo C, González M, Calasanz MJ, Mayans J, García-Ballesteros C, Amigo V, Collado R, Oliver I, Carbonell F, Bureo E, Insunza A, Yañez L, Muruzabal MJ, Gómez-Beltrán E, Andreu R, León P, Gómez V, Sanz A, Casasola N, Moreno E, Alegre A, Martín ML, Pedro C, Serrano S, Florensa L, Solé F.

Haematologica. 2008 Jul;93(7):1001-8. doi: 10.3324/haematol.13012.

17.

Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.

Fan YS, Siu VM, Jung JH, Farrell SA, Côté GB.

Am J Med Genet. 2001 Oct 15;103(3):231-4.

PMID:
11745996
18.

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.

Leclercq S, Maincent K, Baverel F, Tessier DL, Letourneur F, Lebbar A, Dupont JM.

Am J Med Genet A. 2009 Mar;149A(3):437-45. doi: 10.1002/ajmg.a.32640.

PMID:
19206177
19.

Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter.

Tirado CA, Henderson S, Uddin N, Stewart E, Iyer S, Ratner IM, Matthews E, Doolittle J, Garcia R, Valdez F, Dallaire S, Appleberry T, Payne D, Collins R.

Am J Med Genet A. 2009 Nov;149A(11):2507-12. doi: 10.1002/ajmg.a.33080. Erratum in: Am J Med Genet A. 2010 Jan;152A(2):537.

PMID:
19876903
20.

Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion.

Lefort G, Blanchet P, Belgrade N, Rivier F, Chaze AM, Sarda P, Demaille J, Pellestor F.

Am J Med Genet A. 2003 Apr 15;118A(2):333-8.

PMID:
12698965
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