252 related articles for article (PubMed ID: 17567547)
41. Identification of a "cryptic mosaicism" involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success.
Santos M; Mrasek K; Rigola MA; Starke H; Liehr T; Fuster C
Fertil Steril; 2007 Oct; 88(4):969.e11-7. PubMed ID: 17451694
[TBL] [Abstract][Full Text] [Related]
42. An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations.
Cockwell AE; Gibbons B; Moore IE; Crolla JA
J Med Genet; 2000 Oct; 37(10):807-10. PubMed ID: 11183190
[No Abstract] [Full Text] [Related]
43. Pure familial 6q21q22.1 duplication in two generations.
Pazooki M; Lebbar A; Roubergues A; Baverel F; Letessier D; Dupont JM
Eur J Med Genet; 2007; 50(1):60-5. PubMed ID: 17071147
[TBL] [Abstract][Full Text] [Related]
44. Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.
Warburton PE; Dolled M; Mahmood R; Alonso A; Li S; Naritomi K; Tohma T; Nagai T; Hasegawa T; Ohashi H; Govaerts LC; Eussen BH; Van Hemel JO; Lozzio C; Schwartz S; Dowhanick-Morrissette JJ; Spinner NB; Rivera H; Crolla JA; Yu C; Warburton D
Am J Hum Genet; 2000 Jun; 66(6):1794-806. PubMed ID: 10777715
[TBL] [Abstract][Full Text] [Related]
45. FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II.
Gentile M; De Sanctis S; Cariola F; Spezzi T; Di Carlo A; Tontoli F; Lista F; Buonadonna AL
Eur J Med Genet; 2005; 48(1):33-9. PubMed ID: 15953404
[TBL] [Abstract][Full Text] [Related]
46. A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.
Gijsbers AC; Bijlsma EK; Weiss MM; Bakker E; Breuning MH; Hoffer MJ; Ruivenkamp CA
Eur J Med Genet; 2008; 51(5):479-87. PubMed ID: 18547887
[TBL] [Abstract][Full Text] [Related]
47. Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: identification of one case of trisomy 20 mosaicism confined to keratinocytes.
Taibjee SM; Hall D; Balderson D; Larkins S; Stubbs T; Moss C
Clin Exp Dermatol; 2009 Oct; 34(7):823-9. PubMed ID: 19438553
[TBL] [Abstract][Full Text] [Related]
48. Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.
Shamdeen A; Meyer S; Gottschling S; Oehl-Jaschkowitz B; Gortner L; Shamdeen MG
Klin Padiatr; 2009; 221(2):97-9. PubMed ID: 19067289
[TBL] [Abstract][Full Text] [Related]
49. Origin of a prenatal mosaic supernumerary neocentromeric derivative chromosome 13 determined by QF-PCR.
Dawson AJ; Hryshko M; Konkin D; Bal S; Bernier D; Tomiuk M; Burnett S; Frosk P; Chodirker BN; Chun K
Fetal Diagn Ther; 2013; 33(1):75-8. PubMed ID: 22614064
[TBL] [Abstract][Full Text] [Related]
50. Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome.
Timur AA; Sadgephour A; Graf M; Schwartz S; Libby ED; Driscoll DJ; Wang Q
Ann Hum Genet; 2004 Jul; 68(Pt 4):353-61. PubMed ID: 15225160
[TBL] [Abstract][Full Text] [Related]
51. Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.
Giardino D; Finelli P; Russo S; Gottardi G; Rodeschini O; Atza MG; Natacci F; Larizza L
Am J Med Genet; 2002 Aug; 111(3):319-23. PubMed ID: 12210331
[TBL] [Abstract][Full Text] [Related]
52. FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.
Cockwell AE; Dávalos IP; Rivera HR; Crolla JA
Am J Med Genet; 2001 Nov; 103(4):289-94. PubMed ID: 11746008
[TBL] [Abstract][Full Text] [Related]
53. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
Ballarati L; Recalcati MP; Bedeschi MF; Lalatta F; Valtorta C; Bellini M; Finelli P; Larizza L; Giardino D
Eur J Med Genet; 2009; 52(4):218-23. PubMed ID: 19236961
[TBL] [Abstract][Full Text] [Related]
54. First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.
Gamerdinger U; Bosse K; Eggermann T; Kalscheuer V; Schwanitz G; Engels H
Eur J Med Genet; 2006; 49(3):225-34. PubMed ID: 16762824
[TBL] [Abstract][Full Text] [Related]
55. Coexistence of neocentromeric marker 3q and trisomy 3 in two different tissues in a 3-year-old boy with peripheral T-cell lymphoma: support for a gene dosage effect hypothesis.
Batanian JR; Bernreuter K; Koslosky L; Frater JL
Cancer Genet Cytogenet; 2006 Oct; 170(2):152-7. PubMed ID: 17011987
[TBL] [Abstract][Full Text] [Related]
56. Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children.
Gravholt CH; Friedrich U
Am J Med Genet; 1995 Mar; 56(1):106-11. PubMed ID: 7747772
[TBL] [Abstract][Full Text] [Related]
57. Neocentromere formation in a stable ring 1p32-p36.1 chromosome.
Slater HR; Nouri S; Earle E; Lo AW; Hale LG; Choo KH
J Med Genet; 1999 Dec; 36(12):914-8. PubMed ID: 10593999
[TBL] [Abstract][Full Text] [Related]
58. Trisomy of medial 15q as result of an analphoid supernumerary ring chromosome detected by CGH and FISH.
Constantinou M; Płowás I; Kałuzewski B
Cytogenet Genome Res; 2007; 119(1-2):165-9. PubMed ID: 18160798
[TBL] [Abstract][Full Text] [Related]
59. FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
Bartsch O; Rasi S; Hoffmann K; Blin N
Eur J Hum Genet; 2005 May; 13(5):592-8. PubMed ID: 15756300
[TBL] [Abstract][Full Text] [Related]
60. [New chromosomal syndromes].
Schluth-Bolard C; Till M; Edery P; Sanlaville D
Pathol Biol (Paris); 2008 Sep; 56(6):380-7. PubMed ID: 18467039
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]