236 related articles for article (PubMed ID: 2477654)
1. Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.
Lamb J; Wilkie AO; Harris PC; Buckle VJ; Lindenbaum RH; Barton NJ; Reeders ST; Weatherall DJ; Higgs DR
Lancet; 1989 Oct; 2(8667):819-24. PubMed ID: 2477654
[TBL] [Abstract][Full Text] [Related]
2. Localisation of human alpha globin to 16p13.3----pter.
Buckle VJ; Higgs DR; Wilkie AO; Super M; Weatherall DJ
J Med Genet; 1988 Dec; 25(12):847-9. PubMed ID: 3236367
[TBL] [Abstract][Full Text] [Related]
3. Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization.
Johannesson T; Ehlers S; Wahlström J
Clin Genet; 1997 Apr; 51(4):281-5. PubMed ID: 9184255
[TBL] [Abstract][Full Text] [Related]
4. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
Balci S; Aypar E; Beksaç MS; Bartsch O
Genet Couns; 2009; 20(2):125-32. PubMed ID: 19650409
[TBL] [Abstract][Full Text] [Related]
5. Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.
Wieczorek D; Engels H; Viersbach R; Henke B; Schwanitz G; Passarge E
J Med Genet; 1998 Jul; 35(7):545-53. PubMed ID: 9678698
[TBL] [Abstract][Full Text] [Related]
6. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
Caliskan MO; Karauzum SB; Mihci E; Tacoy S; Luleci G
Genet Couns; 2005; 16(2):129-38. PubMed ID: 16080292
[TBL] [Abstract][Full Text] [Related]
7. Detection of submicroscopic subtelomeric chromosome translocations: a new case study.
Warburton P; Mohammed S; Ogilvie CM
Am J Med Genet; 2000 Mar; 91(1):51-5. PubMed ID: 10751089
[TBL] [Abstract][Full Text] [Related]
8. X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.
Bernstein R; Dawson B; Kohl R; Jenkins T
J Med Genet; 1979 Aug; 16(4):254-62. PubMed ID: 290816
[TBL] [Abstract][Full Text] [Related]
9. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.
Wilkie AO; Buckle VJ; Harris PC; Lamb J; Barton NJ; Reeders ST; Lindenbaum RH; Nicholls RD; Barrow M; Bethlenfalvay NC
Am J Hum Genet; 1990 Jun; 46(6):1112-26. PubMed ID: 2339704
[TBL] [Abstract][Full Text] [Related]
10. A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.
Assawamakin A; Wattanasirichaigoon D; Tocharoentanaphol C; Waeteekul S; Tansatit M; Thongnoppakhun W; Limwongse C
Am J Med Genet A; 2012 Apr; 158A(4):901-8. PubMed ID: 22419381
[TBL] [Abstract][Full Text] [Related]
11. Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p.
Gödde-Salz E; Behnke H
Eur J Pediatr; 1981 Mar; 136(1):93-6. PubMed ID: 7215394
[TBL] [Abstract][Full Text] [Related]
12. Translocation of chromosome 4 and 9 with ring formation of chromosome 4 short arm.
Bernstein R; Milne AT; Jenkins T
J Med Genet; 1978 Aug; 15(4):310-4. PubMed ID: 712764
[TBL] [Abstract][Full Text] [Related]
13. A case of insertional translocation resulting in partial trisomy 16p.
Kokalj-Vokac N; Medica I; Zagorac A; Zagradisnik B; Erjavec A; Gregoric A
Ann Genet; 2000; 43(3-4):131-5. PubMed ID: 11164194
[TBL] [Abstract][Full Text] [Related]
14. A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).
Lespinasse J; Testard H; Nugues F; Till M; Cordier MP; Althuser M; Amblard F; Fert-Ferrer S; Durand C; Dalmon F; Pourcel C; Jouk PS
Ann Genet; 2004; 47(4):405-17. PubMed ID: 15581840
[TBL] [Abstract][Full Text] [Related]
15. Complex chromosomal rearrangement in a mentally retarded boy without gross dysmorphic stigmata.
Fryns JP; Kleczkowska A; Lebas E; Goffaux P; Van den Berghe H
Acta Paediatr Scand; 1984 Jan; 73(1):138-40. PubMed ID: 6702444
[TBL] [Abstract][Full Text] [Related]
16. [Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].
Borg K; Bocian E; Stankiewicz P; Obersztyn E; Kruczek A; Nowakowska B; Ilnicka A; Mazurczak T
Med Wieku Rozwoj; 2006; 10(1 Pt 2):227-46. PubMed ID: 17028391
[TBL] [Abstract][Full Text] [Related]
17. Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.
Joly G; Lapierre JM; Ozilou C; Gosset P; Aurias A; de Blois MC; Prieur M; Raoul O; Colleaux L; Munnich A; Romana S; Vekemans M; Turleau C
Clin Genet; 2001 Sep; 60(3):212-9. PubMed ID: 11595023
[TBL] [Abstract][Full Text] [Related]
18. Partial trisomy 2p.
Pueschel SM; Scola PS; Mendoza T
J Ment Defic Res; 1987 Sep; 31 ( Pt 3)():293-8. PubMed ID: 3681957
[TBL] [Abstract][Full Text] [Related]
19. Complex translocation in a boy with trichorhinophalangeal syndrome.
Sánchez LM; Labarta JD; De Negrotti TC; Migliorini AM
J Med Genet; 1985 Aug; 22(4):314-6. PubMed ID: 4045963
[TBL] [Abstract][Full Text] [Related]
20. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.
Sogaard M; Tümer Z; Hjalgrim H; Hahnemann J; Friis B; Ledaal P; Pedersen VF; Baekgaard P; Tommerup N; Cingöz S; Duno M; Brondum-Nielsen K
BMC Med Genet; 2005 May; 6():21. PubMed ID: 15904506
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
