98 related articles for article (PubMed ID: 12017238)
1. Fishing for a diagnosis.
Duijvestijn YC; Cobben JM; Leegte B; de Vries TW
Genet Couns; 2002; 13(1):49-54. PubMed ID: 12017238
[TBL] [Abstract][Full Text] [Related]
2. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
Bartholdi D; Toelle SP; Steiner B; Boltshauser E; Schinzel A; Riegel M
Eur J Med Genet; 2008; 51(2):113-23. PubMed ID: 18262484
[TBL] [Abstract][Full Text] [Related]
3. A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis.
Nucaro A; Crisponi G; Minafra L; Rossino R; Cianchetti C
Genet Couns; 2008; 19(1):37-42. PubMed ID: 18564499
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
Lukusa T; van den Berghe L; Smeets E; Fryns JP
Ann Genet; 1999; 42(4):215-20. PubMed ID: 10674161
[TBL] [Abstract][Full Text] [Related]
6. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.
Bacino CA; Kashork CD; Davino NA; Shaffer LG
Am J Med Genet; 2000 Jun; 92(4):250-5. PubMed ID: 10842290
[TBL] [Abstract][Full Text] [Related]
7. Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.
de Pater JM; Poot M; Beemer FA; Bijlsma JB; Hack WW; Van Dam WM; Eleveld MJ; Loneus WH; Engelen JJ
Eur J Med Genet; 2006; 49(1):19-27. PubMed ID: 16473306
[TBL] [Abstract][Full Text] [Related]
8. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.
Slavotinek A; Rosenberg M; Knight S; Gaunt L; Fergusson W; Killoran C; Clayton-Smith J; Kingston H; Campbell RH; Flint J; Donnai D; Biesecker L
J Med Genet; 1999 May; 36(5):405-11. PubMed ID: 10353788
[TBL] [Abstract][Full Text] [Related]
9. Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.
Kleefstra T; van de Zande G; Merkx G; Mieloo H; Hoovers JM; Smeets D
Eur J Hum Genet; 2000 Aug; 8(8):637-40. PubMed ID: 10951526
[TBL] [Abstract][Full Text] [Related]
10. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
Roos A; Rudnik-Schöneborn S; Eggermann K; Eggermann T; Senderek J; Schwanitz G; Zerres K; Schüler HM
Eur J Med Genet; 2006; 49(6):505-10. PubMed ID: 16905374
[TBL] [Abstract][Full Text] [Related]
11. Subtelomeric chromosome aberrations: still a lot to learn.
Moog U; Arens YH; van Lent-Albrechts JC; Huijts PE; Smeets EE; Schrander-Stumpel CT; Engelen JJ
Clin Genet; 2005 Nov; 68(5):397-407. PubMed ID: 16207207
[TBL] [Abstract][Full Text] [Related]
12. Monosomy 5p and trisomy 12p in a boy with familial balanced translocation.
Vasudevan PC; Parker MJ
Clin Dysmorphol; 2006 Apr; 15(2):85-7. PubMed ID: 16531734
[TBL] [Abstract][Full Text] [Related]
13. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
[TBL] [Abstract][Full Text] [Related]
14. Revaluation twenty-three years later of a supernumerary derivative chromosome 9.
Yardin C; Esclaire F; Terro F; Barthe D; Gilbert B
Am J Med Genet; 2002 Aug; 111(2):213-4. PubMed ID: 12210354
[No Abstract] [Full Text] [Related]
15. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.
Popp S; Schulze B; Granzow M; Keller M; Holtgreve-Grez H; Schoell B; Brough M; Hager HD; Tariverdian G; Brown J; Kearney L; Jauch A
Hum Genet; 2002 Jul; 111(1):31-9. PubMed ID: 12136233
[TBL] [Abstract][Full Text] [Related]
16. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child.
Giardino D; Finelli P; Gottardi G; Clerici D; Mosca F; Briscioli V; Larizza L
Eur J Hum Genet; 2001 Dec; 9(12):881-6. PubMed ID: 11840188
[TBL] [Abstract][Full Text] [Related]
17. De novo complex chromosome rearrangement: a study of two patients.
Melo DG; Huber J; Giuliani LR; Mazzucatto LF; Riegel M; Pina-Neto JM
Genet Couns; 2004; 15(3):303-10. PubMed ID: 15517822
[TBL] [Abstract][Full Text] [Related]
18. Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.
Plotner PL; Smith JL; Northrup H
Am J Med Genet; 2002 Jul; 111(1):71-5. PubMed ID: 12124739
[TBL] [Abstract][Full Text] [Related]
19. Detection of chromosome-specific aneusomy and translocation by benzene metabolites in human lymphocytes using fluorescence in situ hybridization with DNA probes for chromosomes 5, 7, 8, and 21.
Chung HW; Kim SY
J Toxicol Environ Health A; 2002 Mar; 65(5-6):365-72. PubMed ID: 11936217
[TBL] [Abstract][Full Text] [Related]
20. Proof of partial imbalances 6q and 11q due to maternal complex balanced translocation analyzed by microdissection of multicolor labeled chromosomes (FISH-MD) in a patient with Dandy-Walker variant.
Weimer J; Cohen M; Wiedemann U; Heinrich U; Jonat W; Arnold N
Cytogenet Genome Res; 2006; 114(3-4):235-9. PubMed ID: 16954659
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
