344 related articles for article (PubMed ID: 20677137)
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. PubMed ID: 20677137
[TBL] [Abstract][Full Text] [Related]
2. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization.
Guo WJ; Callif-Daley F; Zapata MC; Miller ME
Am J Med Genet; 1995 Sep; 58(3):230-6. PubMed ID: 8533823
[TBL] [Abstract][Full Text] [Related]
3. 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; 50(3):296-9. PubMed ID: 8042676
[TBL] [Abstract][Full Text] [Related]
4. 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; 46(3):288-92. PubMed ID: 8488873
[TBL] [Abstract][Full Text] [Related]
5. 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; 52(1):31-6. PubMed ID: 19041960
[TBL] [Abstract][Full Text] [Related]
6. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
Wyandt HE; Shim SH; Mark HF; Huang XL; Milunsky JM
Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
[TBL] [Abstract][Full Text] [Related]
7. [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. PubMed ID: 11696311
[TBL] [Abstract][Full Text] [Related]
8. 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; 117(3):731-4. PubMed ID: 24502041
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 17342151
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 18591625
[TBL] [Abstract][Full Text] [Related]
11. Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.
de Die-Smulders CE; Engelen JJ; Schrander-Stumpel CT; Govaerts LC; de Vries B; Vles JS; Wagemans A; Schijns-Fleuren S; Gillessen-Kaesbach G; Fryns JP
Am J Med Genet; 1995 Nov; 59(3):369-74. PubMed ID: 8599364
[TBL] [Abstract][Full Text] [Related]
12. Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3-->p23.3 and a rearranged duplication of 8q24.13-->qter.
Fan YS; Siu VM
Am J Med Genet; 2001 Aug; 102(3):266-71. PubMed ID: 11484205
[TBL] [Abstract][Full Text] [Related]
13. Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin.
Hoo JJ; Chao M; Szego K; Rauer M; Echiverri SC; Harris C
Am J Med Genet; 1995 Sep; 58(4):299-304. PubMed ID: 8533837
[TBL] [Abstract][Full Text] [Related]
14. Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p).
Caglayan AO; Engelen JJ; Ghesquiere S; Alofs M; Saatci C; Dundar M
Genet Couns; 2009; 20(4):333-40. PubMed ID: 20162868
[TBL] [Abstract][Full Text] [Related]
15. 18q- and 18q+ mosaicism in a mentally retarded boy.
Ausems MG; Bhola SL; Post-Blok CA; Hennekam RC; de France HF
Am J Med Genet; 1994 Nov; 53(3):296-9. PubMed ID: 7856666
[TBL] [Abstract][Full Text] [Related]
16. Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies.
Spikes AS; Hegmann K; Smith JL; Shaffer LG
Am J Med Genet; 1995 May; 57(1):31-4. PubMed ID: 7645595
[TBL] [Abstract][Full Text] [Related]
17. 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; 91(3):201-3. PubMed ID: 10756343
[TBL] [Abstract][Full Text] [Related]
18. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
Beaujard MP; Jouannic JM; Bessières B; Borie C; Martin-Luis I; Fallet-Bianco C; Portnoï MF
Prenat Diagn; 2005 Jun; 25(6):451-5. PubMed ID: 15966060
[TBL] [Abstract][Full Text] [Related]
19. Precise mapping of a de novo duplication 18(q21-->q22) utilizing cytogenetic, biochemical, and molecular techniques.
Wolff DJ; Schwartz MF; Cohen MM; Schwartz S
Am J Med Genet; 1993 Jun; 46(5):520-3. PubMed ID: 8322813
[TBL] [Abstract][Full Text] [Related]
20. Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.
Soler A; Sánchez A; Carrió A; Badenas C; Milà M; Borrell A
Prenat Diagn; 2003 Apr; 23(4):319-22. PubMed ID: 12673638
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]