214 related articles for article (PubMed ID: 22228005)
1. What have studies of genomic disorders taught us about our genome?
Simmons AD; Carvalho CM; Lupski JR
Methods Mol Biol; 2012; 838():1-27. PubMed ID: 22228005
[TBL] [Abstract][Full Text] [Related]
2. Microdeletion and microduplication syndromes.
Vissers LE; Stankiewicz P
Methods Mol Biol; 2012; 838():29-75. PubMed ID: 22228006
[TBL] [Abstract][Full Text] [Related]
3. Pharmacogenetics: technologies to detect copy number variations.
Dhawan D; Padh H
Curr Opin Mol Ther; 2009 Dec; 11(6):670-80. PubMed ID: 20072944
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Large scale copy number variation (CNV) at 14q12 is associated with the presence of genomic abnormalities in neoplasia.
Braude I; Vukovic B; Prasad M; Marrano P; Turley S; Barber D; Zielenska M; Squire JA
BMC Genomics; 2006 Jun; 7():138. PubMed ID: 16756668
[TBL] [Abstract][Full Text] [Related]
6. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
Gribble SM; Prigmore E; Burford DC; Porter KM; Ng BL; Douglas EJ; Fiegler H; Carr P; Kalaitzopoulos D; Clegg S; Sandstrom R; Temple IK; Youings SA; Thomas NS; Dennis NR; Jacobs PA; Crolla JA; Carter NP
J Med Genet; 2005 Jan; 42(1):8-16. PubMed ID: 15635069
[TBL] [Abstract][Full Text] [Related]
7. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Striano P; Coppola A; Paravidino R; Malacarne M; Gimelli S; Robbiano A; Traverso M; Pezzella M; Belcastro V; Bianchi A; Elia M; Falace A; Gazzerro E; Ferlazzo E; Freri E; Galasso R; Gobbi G; Molinatto C; Cavani S; Zuffardi O; Striano S; Ferrero GB; Silengo M; Cavaliere ML; Benelli M; Magi A; Piccione M; Dagna Bricarelli F; Coviello DA; Fichera M; Minetti C; Zara F
Arch Neurol; 2012 Mar; 69(3):322-30. PubMed ID: 22083797
[TBL] [Abstract][Full Text] [Related]
8. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Schluth-Bolard C; Delobel B; Sanlaville D; Boute O; Cuisset JM; Sukno S; Labalme A; Duban-Bedu B; Plessis G; Jaillard S; Dubourg C; Henry C; Lucas J; Odent S; Pasquier L; Copin H; Latour P; Cordier MP; Nadeau G; Till M; Edery P; Andrieux J
Eur J Med Genet; 2009; 52(5):291-6. PubMed ID: 19505601
[TBL] [Abstract][Full Text] [Related]
9. Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization.
Cho SC; Yim SH; Yoo HK; Kim MY; Jung GY; Shin GW; Kim BN; Hwang JW; Kang JJ; Kim TM; Chung YJ
Psychiatr Genet; 2009 Aug; 19(4):177-85. PubMed ID: 19407672
[TBL] [Abstract][Full Text] [Related]
10. Detection and characterization of copy number variation in autism spectrum disorder.
Marshall CR; Scherer SW
Methods Mol Biol; 2012; 838():115-35. PubMed ID: 22228009
[TBL] [Abstract][Full Text] [Related]
11. Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
Gijsbers AC; Bosch CA; Dauwerse JG; Giromus O; Hansson K; Hilhorst-Hofstee Y; Kriek M; van Haeringen A; Bijlsma EK; Bakker E; Breuning MH; Ruivenkamp CA
Eur J Med Genet; 2010; 53(5):227-33. PubMed ID: 20542150
[TBL] [Abstract][Full Text] [Related]
12. [Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization].
He WZ; Liu WQ; Zhong XQ; Chen XL; Li SY; Zhang HM; Li Q; Cui QL; Sun XF
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Jun; 29(3):266-9. PubMed ID: 22678785
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays.
Pinkel D; Segraves R; Sudar D; Clark S; Poole I; Kowbel D; Collins C; Kuo WL; Chen C; Zhai Y; Dairkee SH; Ljung BM; Gray JW; Albertson DG
Nat Genet; 1998 Oct; 20(2):207-11. PubMed ID: 9771718
[TBL] [Abstract][Full Text] [Related]
15. Ionizing radiation and genetic risks XIV. Potential research directions in the post-genome era based on knowledge of repair of radiation-induced DNA double-strand breaks in mammalian somatic cells and the origin of deletions associated with human genomic disorders.
Sankaranarayanan K; Wassom JS
Mutat Res; 2005 Oct; 578(1-2):333-70. PubMed ID: 16084534
[TBL] [Abstract][Full Text] [Related]
16. Structural variants: changing the landscape of chromosomes and design of disease studies.
Feuk L; Marshall CR; Wintle RF; Scherer SW
Hum Mol Genet; 2006 Apr; 15 Spec No 1():R57-66. PubMed ID: 16651370
[TBL] [Abstract][Full Text] [Related]
17. Comparative genome hybridization on tiling microarrays to detect aneuploidies in yeast.
Dion B; Brown GW
Methods Mol Biol; 2009; 548():1-18. PubMed ID: 19521816
[TBL] [Abstract][Full Text] [Related]
18. Emerging themes and new challenges in defining the role of structural variation in human disease.
Sharp AJ
Hum Mutat; 2009 Feb; 30(2):135-44. PubMed ID: 18837009
[TBL] [Abstract][Full Text] [Related]
19. Genomic disorders 20 years on-mechanisms for clinical manifestations.
Harel T; Lupski JR
Clin Genet; 2018 Mar; 93(3):439-449. PubMed ID: 28950406
[TBL] [Abstract][Full Text] [Related]
20. Structural variation in the human genome and its role in disease.
Stankiewicz P; Lupski JR
Annu Rev Med; 2010; 61():437-55. PubMed ID: 20059347
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]