746 related articles for article (PubMed ID: 17594399)
21. Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2.
Park JP; Moeschler JB; Davies WS; Patel PI; Mohandas TK
Am J Med Genet; 1998 Apr; 77(1):23-7. PubMed ID: 9557889
[TBL] [Abstract][Full Text] [Related]
22. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
Koolen DA; Reardon W; Rosser EM; Lacombe D; Hurst JA; Law CJ; Bongers EM; van Ravenswaaij-Arts CM; Leisink MA; van Kessel AG; Veltman JA; de Vries BB
Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
[TBL] [Abstract][Full Text] [Related]
23. Interstitial 6q duplication in an adult male without growth delay or severe mental retardation.
Cappon SL; Duncan AM; Khalifa MM
Med Sci Monit; 2000; 6(3):581-5. PubMed ID: 11208374
[TBL] [Abstract][Full Text] [Related]
24. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
Chen KS; Manian P; Koeuth T; Potocki L; Zhao Q; Chinault AC; Lee CC; Lupski JR
Nat Genet; 1997 Oct; 17(2):154-63. PubMed ID: 9326934
[TBL] [Abstract][Full Text] [Related]
25. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
Walz K; Spencer C; Kaasik K; Lee CC; Lupski JR; Paylor R
Hum Mol Genet; 2004 Feb; 13(4):367-78. PubMed ID: 14709593
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. [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]
28. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
Kirchhoff M; Bisgaard AM; Bryndorf T; Gerdes T
Eur J Med Genet; 2007; 50(1):33-42. PubMed ID: 17090394
[TBL] [Abstract][Full Text] [Related]
29. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype.
Mewar R; Harrison W; Weaver DD; Palmer C; Davee MA; Overhauser J
Am J Med Genet; 1994 Aug; 52(2):178-83. PubMed ID: 7802005
[TBL] [Abstract][Full Text] [Related]
30. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization.
Guo WJ; Callif-Daley F; Zapata MC; Miller ME
Am J Med Genet; 1995 Sep; 58(3):230-6. PubMed ID: 8533823
[TBL] [Abstract][Full Text] [Related]
31. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
Doco-Fenzy M; Holder-Espinasse M; Bieth E; Magdelaine C; Vincent MC; Khoury M; Andrieux J; Zhang F; Lupski JR; Klink R; Schneider A; Goze-Martineau O; Cuisset JM; Vallee L; Manouvrier-Hanu S; Gaillard D; de Martinville B
Am J Med Genet A; 2008 Apr; 146A(7):917-24. PubMed ID: 18327785
[TBL] [Abstract][Full Text] [Related]
32. Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
Saugier-Veber P; Goldenberg A; Drouin-Garraud V; de La Rochebrochard C; Layet V; Drouot N; Le Meur N; Gilbert-Du-Ssardier B; Joly-Hélas G; Moirot H; Rossi A; Tosi M; Frébourg T
Eur J Hum Genet; 2006 Sep; 14(9):1009-17. PubMed ID: 16773131
[TBL] [Abstract][Full Text] [Related]
33. A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
Caselli R; Ballarati L; Selicorni A; Milani D; Maitz S; Valtorta C; Larizza L; Giardino D
Eur J Med Genet; 2010; 53(5):325-8. PubMed ID: 20621612
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2).
Kondo I; Matsuura S; Kuwajima K; Tokashiki M; Izumikawa Y; Naritomi K; Niikawa N; Kajii T
Am J Med Genet; 1991 Nov; 41(2):225-9. PubMed ID: 1785639
[TBL] [Abstract][Full Text] [Related]
36. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
Klopocki E; Neumann LM; Tönnies H; Ropers HH; Mundlos S; Ullmann R
Eur J Hum Genet; 2006 Dec; 14(12):1274-9. PubMed ID: 16896345
[TBL] [Abstract][Full Text] [Related]
37. Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.
Juyal RC; Finucane B; Shaffer LG; Lupski JR; Greenberg F; Scott CI; Baldini A; Patel PI
Am J Med Genet; 1995 Nov; 59(3):406-7. PubMed ID: 8599375
[No Abstract] [Full Text] [Related]
38. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.
Murru D; Boccone L; Ristaldi MS; Nucaro AL
Genet Couns; 2008; 19(4):381-6. PubMed ID: 19239081
[TBL] [Abstract][Full Text] [Related]
39. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Nakabayashi K; Fernandez BA; Teshima I; Shuman C; Proud VK; Curry CJ; Chitayat D; Grebe T; Ming J; Oshimura M; Meguro M; Mitsuya K; Deb-Rinker P; Herbrick JA; Weksberg R; Scherer SW
Genomics; 2002 Feb; 79(2):186-96. PubMed ID: 11829489
[TBL] [Abstract][Full Text] [Related]
40. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
Barber JC; Maloney VK; Huang S; Bunyan DJ; Cresswell L; Kinning E; Benson A; Cheetham T; Wyllie J; Lynch SA; Zwolinski S; Prescott L; Crow Y; Morgan R; Hobson E
Eur J Hum Genet; 2008 Jan; 16(1):18-27. PubMed ID: 17940555
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
