207 related articles for article (PubMed ID: 9482648)
1. Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.
Engelen JJ; Loots WJ; Albrechts JC; Plomp AS; van der Meer SB; Vles JS; Hamers GJ; Geraedts JP
Am J Med Genet; 1998 Feb; 75(4):409-13. PubMed ID: 9482648
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
Courtens W; Wuyts W; Scheers S; Van Luijk R; Reyniers E; Rooms L; Ceulemans B; Kooy F; Wauters J
Eur J Med Genet; 2006; 49(5):402-13. PubMed ID: 16488200
[TBL] [Abstract][Full Text] [Related]
5. A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1).
Mohrschladt MF; Bijlsma EK; Sluijter S; De Coo RF; Hoovers JM; Leschot NJ
Clin Dysmorphol; 1999 Jul; 8(3):211-4. PubMed ID: 10457857
[TBL] [Abstract][Full Text] [Related]
6. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
Callier P; Faivre L; Marle N; Thauvin-Robinet C; Mosca AL; Masurel-Paulet A; Borgnon J; Falcon-Eicher S; Danino A; Malka G; Le Merrer M; Huet F; Mugneret F
Eur J Med Genet; 2007; 50(6):455-64. PubMed ID: 17720646
[TBL] [Abstract][Full Text] [Related]
7. Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization.
Guo QS; Qin SY; Zhou SF; He L; Ma D; Zhang YP; Xiong Y; Peng T; Cheng Y; Li XT
Eur J Clin Invest; 2009 Aug; 39(8):729-37. PubMed ID: 19515099
[TBL] [Abstract][Full Text] [Related]
8. De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review.
Batanian JR; Eswara MS
Am J Med Genet; 1998 Jun; 78(1):44-51. PubMed ID: 9637422
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities.
Müller-Navia J; Nebel A; Oehler D; Theile U; Zabel B; Schleiermacher E
Prenat Diagn; 1996 Oct; 16(10):915-22. PubMed ID: 8938060
[TBL] [Abstract][Full Text] [Related]
11. De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.
Bal M; Schrander-Stumpel CT; Meers LE; Theunissen PM; Hamers AJ; Wennekes MJ; Engelen JJ
Genet Couns; 2000; 11(3):221-7. PubMed ID: 11043430
[TBL] [Abstract][Full Text] [Related]
12. Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21.
Riegel M; Hargreaves P; Baumer A; Guc-Scekic M; Ignjatovic M; Schinzel A
Eur J Med Genet; 2005; 48(2):167-74. PubMed ID: 16053908
[TBL] [Abstract][Full Text] [Related]
13. Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.
McGinniss MJ; Rosenberg C; Stetten G; Schinzel AA; Binkert F; Petersen MB; Kearns WG; Kazazian HH; Pearson PL; Antonarakis SE
Am J Med Genet; 1993 Jul; 46(6):647-51. PubMed ID: 8362906
[TBL] [Abstract][Full Text] [Related]
14. Premature ovarian failure in a patient with a complex chromosome rearrangement involving the critical region Xq24, characterized by analysis using fluorescence in situ hybridization by chromosome microdissection.
Weimer J; Shivakumar S; Danda S; Thomas N; Ralui LP; Jonat W; Arnold N
Fertil Steril; 2007 Dec; 88(6):1677.e9-13. PubMed ID: 17482166
[TBL] [Abstract][Full Text] [Related]
15. 10p duplication characterized by fluorescence in situ hybridization.
Wiktor A; Feldman GL; Kratkoczki P; Ditmars DM; Van Dyke DL
Am J Med Genet; 1994 Sep; 52(3):315-8. PubMed ID: 7528972
[TBL] [Abstract][Full Text] [Related]
16. Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).
Kolialexi A; Kitsiou S; Fryssira H; Sofocleous C; Kouvidi E; Tsangaris GT; Salavoura K; Mavrou A
In Vivo; 2006; 20(4):473-8. PubMed ID: 16900777
[TBL] [Abstract][Full Text] [Related]
17. Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia.
Zhang L; Parkhurst JB; Kern WF; Scott KV; Niccum D; Mulvihill JJ; Li S
Chin Med J (Engl); 2003 Sep; 116(9):1298-303. PubMed ID: 14527352
[TBL] [Abstract][Full Text] [Related]
18. A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
Hoffer MJ; Hilhorst-Hofstee Y; Knijnenburg J; Hansson KB; Engelberts AC; Laan LA; Bakker E; Rosenberg C
Eur J Med Genet; 2007; 50(2):149-54. PubMed ID: 17223398
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection.
Senger G; Chudoba I; Friedrich U; Tommerup N; Claussen U; Brøndum-Nielsen K
Prenat Diagn; 1997 Apr; 17(4):369-74. PubMed ID: 9160390
[TBL] [Abstract][Full Text] [Related]
20. Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization.
Zhao J; Gordon PL; Wilroy RS; Martens PR; Tarleton J; Shulman LP; Simpson JL; Elias S; Tharapel AT
Am J Med Genet; 1995 May; 56(4):398-402. PubMed ID: 7604849
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
