163 related articles for article (PubMed ID: 17847011)
1. The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.
Fickelscher I; Liehr T; Watts K; Bryant V; Barber JC; Heidemann S; Siebert R; Hertz JM; Tumer Z; Simon Thomas N
Am J Hum Genet; 2007 Oct; 81(4):847-56. PubMed ID: 17847011
[TBL] [Abstract][Full Text] [Related]
2. Prenatal cytogenetic assessment and inv(2)(p11.2q13).
Hysert M; Bruyère H; Côté GB; Dawson AJ; Dolling JA; Fetni R; Hrynchak M; Lavoie J; McGowan-Jordan J; Tihy F; Duncan AM
Prenat Diagn; 2006 Sep; 26(9):810-3. PubMed ID: 16821252
[TBL] [Abstract][Full Text] [Related]
3. Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin.
Lacbawan FL; White BJ; Anguiano A; Rigdon DT; Ball KD; Bromage GB; Yang X; DiFazio MP; Levin SW
Am J Med Genet; 1999 Nov; 87(2):139-42. PubMed ID: 10533028
[TBL] [Abstract][Full Text] [Related]
4. Investigation of the origins of human autosomal inversions.
Thomas NS; Bryant V; Maloney V; Cockwell AE; Jacobs PA
Hum Genet; 2008 Jul; 123(6):607-16. PubMed ID: 18470537
[TBL] [Abstract][Full Text] [Related]
5. Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
Gilling M; Dullinger JS; Gesk S; Metzke-Heidemann S; Siebert R; Meyer T; Brondum-Nielsen K; Tommerup N; Ropers HH; Tümer Z; Kalscheuer VM; Thomas NS
Am J Hum Genet; 2006 May; 78(5):878-883. PubMed ID: 16642442
[TBL] [Abstract][Full Text] [Related]
6. PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13).
Yakut S; Cetin Z; Sanhal C; Karaman B; Mendilcioglu I; Karauzum SB
Genet Couns; 2015; 26(2):243-7. PubMed ID: 26349196
[TBL] [Abstract][Full Text] [Related]
7. Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.
Shim SH; Wyandt HE; McDonald-McGinn DM; Zackai EZ; Milunsky A
Clin Genet; 2004 Jul; 66(1):46-52. PubMed ID: 15200507
[TBL] [Abstract][Full Text] [Related]
8. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.
Huang B; Crolla JA; Christian SL; Wolf-Ledbetter ME; Macha ME; Papenhausen PN; Ledbetter DH
Hum Genet; 1997 Jan; 99(1):11-7. PubMed ID: 9003485
[TBL] [Abstract][Full Text] [Related]
9. A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.
Entesarian M; Carlsson B; Mansouri MR; Stattin EL; Holmberg E; Golovleva I; Stefansson H; Klar J; Dahl N
Am J Med Genet A; 2009 Mar; 149A(3):380-6. PubMed ID: 19213037
[TBL] [Abstract][Full Text] [Related]
10. A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2.
Liang D; Wu L; Pan Q; Harada N; Long Z; Xia K; Yoshiura K; Dai H; Niikawa N; Cai F; Xia J
Am J Med Genet A; 2006 Feb; 140(3):238-44. PubMed ID: 16411213
[TBL] [Abstract][Full Text] [Related]
11. A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.
Ounap K; Ilus T; Laidre P; Uibo O; Tammur P; Bartsch O
Am J Med Genet A; 2005 Sep; 137A(3):323-7. PubMed ID: 16094674
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement.
Vera-Carbonell A; López-Expósito I; Bafalliu JA; Ballesta-Martínez M; Glóver G; Llópis C; Moya-Quiles R; Suela J; Fernández A; Guillén-Navarro E
Am J Med Genet A; 2010 Oct; 152A(10):2670-80. PubMed ID: 20799321
[TBL] [Abstract][Full Text] [Related]
13. Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.
Scott SA; Cohen N; Brandt T; Warburton PE; Edelmann L
Hum Mol Genet; 2010 Sep; 19(17):3383-93. PubMed ID: 20570968
[TBL] [Abstract][Full Text] [Related]
14. Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans.
Kehrer-Sawatzki H; Sandig CA; Goidts V; Hameister H
Cytogenet Genome Res; 2005; 108(1-3):91-7. PubMed ID: 15545720
[TBL] [Abstract][Full Text] [Related]
15. Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).
Granot-Hershkovitz E; Raas-Rothschild A; Frumkin A; Granot D; Silverstein S; Abeliovich D
Am J Med Genet A; 2011 Aug; 155A(8):1825-32. PubMed ID: 21739571
[TBL] [Abstract][Full Text] [Related]
16. Conventional cytogenetics and breakpoint distribution by fluorescent in situ hybridization in patients with malignant hemopathies associated with inv(3)(q21;q26) and t(3;3)(q21;q26).
De Braekeleer E; Douet-Guilbert N; Basinko A; Bovo C; Guéganic N; Le Bris MJ; Morel F; De Braekeleer M
Anticancer Res; 2011 Oct; 31(10):3441-8. PubMed ID: 21965759
[TBL] [Abstract][Full Text] [Related]
17. Heterogeneity of pericentric inversions of the human y chromosome.
Knebel S; Pasantes JJ; Thi DA; Schaller F; Schempp W
Cytogenet Genome Res; 2011; 132(4):219-26. PubMed ID: 21307635
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19206177
[TBL] [Abstract][Full Text] [Related]
19. Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
Bhatt S; Moradkhani K; Mrasek K; Puechberty J; Manvelyan M; Hunstig F; Lefort G; Weise A; Lespinasse J; Sarda P; Liehr T; Hamamah S; Pellestor F
Eur J Hum Genet; 2009 Jan; 17(1):44-50. PubMed ID: 18685557
[TBL] [Abstract][Full Text] [Related]
20. Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.
Sloan-Béna F; Philippe C; LeHeup B; Wuilque F; Levy ER; Chéry M; Jonveaux P; Monaco AP
J Med Genet; 1998 Feb; 35(2):146-50. PubMed ID: 9507395
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]