549 related articles for article (PubMed ID: 16906162)
1. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Sharp AJ; Hansen S; Selzer RR; Cheng Z; Regan R; Hurst JA; Stewart H; Price SM; Blair E; Hennekam RC; Fitzpatrick CA; Segraves R; Richmond TA; Guiver C; Albertson DG; Pinkel D; Eis PS; Schwartz S; Knight SJ; Eichler EE
Nat Genet; 2006 Sep; 38(9):1038-42. PubMed ID: 16906162
[TBL] [Abstract][Full Text] [Related]
2. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Lee JA; Inoue K; Cheung SW; Shaw CA; Stankiewicz P; Lupski JR
Hum Mol Genet; 2006 Jul; 15(14):2250-65. PubMed ID: 16774974
[TBL] [Abstract][Full Text] [Related]
3. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.
Monfort S; Roselló M; Orellana C; Oltra S; Blesa D; Kok K; Ferrer I; Cigudosa JC; Martínez F
J Med Genet; 2008 Jul; 45(7):432-7. PubMed ID: 18413373
[TBL] [Abstract][Full Text] [Related]
4. A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Vincent JB; Choufani S; Horike S; Stachowiak B; Li M; Dill FJ; Marshall C; Hrynchak M; Pewsey E; Ukadike KC; Friedman JM; Srivastava AK; Scherer SW
Psychiatr Genet; 2008 Jun; 18(3):101-9. PubMed ID: 18496206
[TBL] [Abstract][Full Text] [Related]
5. Recurrent 16p11.2 microdeletions in autism.
Kumar RA; KaraMohamed S; Sudi J; Conrad DF; Brune C; Badner JA; Gilliam TC; Nowak NJ; Cook EH; Dobyns WB; Christian SL
Hum Mol Genet; 2008 Feb; 17(4):628-38. PubMed ID: 18156158
[TBL] [Abstract][Full Text] [Related]
6. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Ballif BC; Hornor SA; Jenkins E; Madan-Khetarpal S; Surti U; Jackson KE; Asamoah A; Brock PL; Gowans GC; Conway RL; Graham JM; Medne L; Zackai EH; Shaikh TH; Geoghegan J; Selzer RR; Eis PS; Bejjani BA; Shaffer LG
Nat Genet; 2007 Sep; 39(9):1071-3. PubMed ID: 17704777
[TBL] [Abstract][Full Text] [Related]
7. Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.
Selzer RR; Richmond TA; Pofahl NJ; Green RD; Eis PS; Nair P; Brothman AR; Stallings RL
Genes Chromosomes Cancer; 2005 Nov; 44(3):305-19. PubMed ID: 16075461
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Vissers LE; Bhatt SS; Janssen IM; Xia Z; Lalani SR; Pfundt R; Derwinska K; de Vries BB; Gilissen C; Hoischen A; Nesteruk M; Wisniowiecka-Kowalnik B; Smyk M; Brunner HG; Cheung SW; van Kessel AG; Veltman JA; Stankiewicz P
Hum Mol Genet; 2009 Oct; 18(19):3579-93. PubMed ID: 19578123
[TBL] [Abstract][Full Text] [Related]
10. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
[TBL] [Abstract][Full Text] [Related]
11. Genome structural variation and sporadic disease traits.
Lupski JR
Nat Genet; 2006 Sep; 38(9):974-6. PubMed ID: 16941003
[No Abstract] [Full Text] [Related]
12. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Potocki L; Chen KS; Park SS; Osterholm DE; Withers MA; Kimonis V; Summers AM; Meschino WS; Anyane-Yeboa K; Kashork CD; Shaffer LG; Lupski JR
Nat Genet; 2000 Jan; 24(1):84-7. PubMed ID: 10615134
[TBL] [Abstract][Full Text] [Related]
13. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Ullmann R; Turner G; Kirchhoff M; Chen W; Tonge B; Rosenberg C; Field M; Vianna-Morgante AM; Christie L; Krepischi-Santos AC; Banna L; Brereton AV; Hill A; Bisgaard AM; Müller I; Hultschig C; Erdogan F; Wieczorek G; Ropers HH
Hum Mutat; 2007 Jul; 28(7):674-82. PubMed ID: 17480035
[TBL] [Abstract][Full Text] [Related]
14. Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).
Kehrer-Sawatzki H; Sandig C; Chuzhanova N; Goidts V; Szamalek JM; Tänzer S; Müller S; Platzer M; Cooper DN; Hameister H
Hum Mutat; 2005 Jan; 25(1):45-55. PubMed ID: 15580561
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Koolen DA; Sistermans EA; Nilessen W; Knight SJ; Regan R; Liu YT; Kooy RF; Rooms L; Romano C; Fichera M; Schinzel A; Baumer A; Anderlid BM; Schoumans J; van Kessel AG; Nordenskjold M; de Vries BB
Eur J Hum Genet; 2008 Mar; 16(3):395-400. PubMed ID: 18159213
[TBL] [Abstract][Full Text] [Related]
17. Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.
Steinmann K; Kluwe L; Cooper DN; Brems H; De Raedt T; Legius E; Mautner VF; Kehrer-Sawatzki H
Eur J Hum Genet; 2008 May; 16(5):572-80. PubMed ID: 18212816
[TBL] [Abstract][Full Text] [Related]
18. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
Shaw CJ; Shaw CA; Yu W; Stankiewicz P; White LD; Beaudet AL; Lupski JR
J Med Genet; 2004 Feb; 41(2):113-9. PubMed ID: 14757858
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.
Grisart B; Willatt L; Destrée A; Fryns JP; Rack K; de Ravel T; Rosenfeld J; Vermeesch JR; Verellen-Dumoulin C; Sandford R
J Med Genet; 2009 Aug; 46(8):524-30. PubMed ID: 19502243
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
