172 related articles for article (PubMed ID: 15657611)
1. A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.
Bonaglia MC; Giorda R; Tenconi R; Pessina M; Pramparo T; Borgatti R; Zuffardi O
Eur J Hum Genet; 2005 May; 13(5):586-91. PubMed ID: 15657611
[TBL] [Abstract][Full Text] [Related]
2. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Shao L; Shaw CA; Lu XY; Sahoo T; Bacino CA; Lalani SR; Stankiewicz P; Yatsenko SA; Li Y; Neill S; Pursley AN; Chinault AC; Patel A; Beaudet AL; Lupski JR; Cheung SW
Am J Med Genet A; 2008 Sep; 146A(17):2242-51. PubMed ID: 18663743
[TBL] [Abstract][Full Text] [Related]
3. Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3-->p23.3 and a rearranged duplication of 8q24.13-->qter.
Fan YS; Siu VM
Am J Med Genet; 2001 Aug; 102(3):266-71. PubMed ID: 11484205
[TBL] [Abstract][Full Text] [Related]
4. Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.
Sireteanu A; Braha E; Popescu R; Gramescu M; Gorduza EV; Rusu C
Rev Med Chir Soc Med Nat Iasi; 2013; 117(3):731-4. PubMed ID: 24502041
[TBL] [Abstract][Full Text] [Related]
5. Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.
Fan YS; Siu VM; Jung JH; Farrell SA; Côté GB
Am J Med Genet; 2001 Oct; 103(3):231-4. PubMed ID: 11745996
[TBL] [Abstract][Full Text] [Related]
6. A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies.
Kline AD; Griffin CA; Haddadin MH; Chudoba I; Morsberger LA; Hawkins AL; Amato RS; Munshi G; Cohen MM
Am J Med Genet A; 2004 Aug; 129A(2):124-9. PubMed ID: 15316975
[TBL] [Abstract][Full Text] [Related]
7. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.
Moog U; Engelen JJ; de Die-Smulders CE; Albrechts JC; Loneus WH; Haagen AA; Raven EJ; Hamers AJ
Clin Genet; 1994 Dec; 46(6):423-9. PubMed ID: 7889659
[TBL] [Abstract][Full Text] [Related]
8. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
García-Santiago FA; Martínez-Glez V; Santos F; García-Miñaur S; Mansilla E; Meneses AG; Rosell J; Granero ÁP; Vallespín E; Fernández L; Sierra B; Oliver-Bonet M; Palomares M; de Torres ML; Mori MÁ; Nevado J; Heath KE; Delicado A; Lapunzina P
Am J Med Genet A; 2015 May; 167A(5):1018-25. PubMed ID: 25712135
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.
Devillard F; Guinchat V; Moreno-De-Luca D; Tabet AC; Gruchy N; Guillem P; Nguyen Morel MA; Leporrier N; Leboyer M; Jouk PS; Lespinasse J; Betancur C
Am J Med Genet A; 2010 Sep; 152A(9):2346-54. PubMed ID: 20684015
[TBL] [Abstract][Full Text] [Related]
11. Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.
Milosevic J; El Khattabi L; Roubergue A; Coussement A; Doummar D; Cuisset L; Le Tessier D; Flageul B; Viot G; Lebbar A; Dupont JM
Am J Med Genet A; 2014 Dec; 164A(12):3180-6. PubMed ID: 25257167
[TBL] [Abstract][Full Text] [Related]
12. Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.
Chen E; Obolensky E; Rauen KA; Shaffer LG; Li X
Am J Med Genet A; 2008 Nov; 146A(21):2785-90. PubMed ID: 18924166
[TBL] [Abstract][Full Text] [Related]
13. De novo 46,XX, dir dup (11)(q133.3-->q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia.
Legius E; Wlodarska I; Selleri L; Evans GA; Wu R; Smet G; Fryns JP
Clin Genet; 1996 Apr; 49(4):206-10. PubMed ID: 8828987
[TBL] [Abstract][Full Text] [Related]
14. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Chabchoub E; Rodríguez L; Galán E; Mansilla E; Martínez-Fernandez ML; Martínez-Frías ML; Fryns JP; Vermeesch JR
J Med Genet; 2007 Apr; 44(4):250-6. PubMed ID: 17172463
[TBL] [Abstract][Full Text] [Related]
15. De novo inverted duplication 9p21pter involving telomeric repeated sequences.
Sanlaville D; Baumann C; Lapierre JM; Romana S; Collot N; Cacheux V; Turleau C; Tachdjian G
Am J Med Genet; 1999 Mar; 83(2):125-31. PubMed ID: 10190483
[TBL] [Abstract][Full Text] [Related]
16. [Genetic and prenatal diagnosis of a pregnant women with mental retardation].
Zhang L; Ren M; Song G; Liu X; Zhang J; Wang J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):674-7. PubMed ID: 27577220
[TBL] [Abstract][Full Text] [Related]
17. Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
Martinet D; Filges I; Besuchet Schmutz N; Morris MA; Gaide AC; Dahoun S; Bottani A; Addor MC; Antonarakis SE; Beckmann JS; Béna F
Am J Med Genet A; 2008 Aug; 146A(16):2094-102. PubMed ID: 18629875
[TBL] [Abstract][Full Text] [Related]
18. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.
Tabet AC; Aboura A; Gérard M; Pilorge M; Dupont C; Gadisseux JF; Hervy N; Pipiras E; Delahaye A; Kanafani S; Verloes A; Benzacken B; Betancur C
Am J Med Genet A; 2010 Jul; 152A(7):1781-8. PubMed ID: 20583184
[TBL] [Abstract][Full Text] [Related]
19. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Shinawi M; Liu P; Kang SH; Shen J; Belmont JW; Scott DA; Probst FJ; Craigen WJ; Graham BH; Pursley A; Clark G; Lee J; Proud M; Stocco A; Rodriguez DL; Kozel BA; Sparagana S; Roeder ER; McGrew SG; Kurczynski TW; Allison LJ; Amato S; Savage S; Patel A; Stankiewicz P; Beaudet AL; Cheung SW; Lupski JR
J Med Genet; 2010 May; 47(5):332-41. PubMed ID: 19914906
[TBL] [Abstract][Full Text] [Related]
20. Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).
Cervera M; Sánchez S; Molina B; Alcántara MA; Del Castillo V; Carnevale A; González-del Angel A
Am J Med Genet A; 2005 Aug; 136A(4):381-5. PubMed ID: 16001443
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
