259 related articles for article (PubMed ID: 22228007)
1. Structural genomic variation in intellectual disability.
Pfundt R; Veltman JA
Methods Mol Biol; 2012; 838():77-95. PubMed ID: 22228007
[TBL] [Abstract][Full Text] [Related]
2. SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.
de Leeuw N; Hehir-Kwa JY; Simons A; Geurts van Kessel A; Smeets DF; Faas BH; Pfundt R
Cytogenet Genome Res; 2011; 135(3-4):212-21. PubMed ID: 21934286
[TBL] [Abstract][Full Text] [Related]
3. De novo copy number variants associated with intellectual disability have a paternal origin and age bias.
Hehir-Kwa JY; Rodríguez-Santiago B; Vissers LE; de Leeuw N; Pfundt R; Buitelaar JK; Pérez-Jurado LA; Veltman JA
J Med Genet; 2011 Nov; 48(11):776-8. PubMed ID: 21969336
[TBL] [Abstract][Full Text] [Related]
4. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.
Vissers LE; de Vries BB; Veltman JA
J Med Genet; 2010 May; 47(5):289-97. PubMed ID: 19951919
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Pathogenic or not? Assessing the clinical relevance of copy number variants.
Hehir-Kwa JY; Pfundt R; Veltman JA; de Leeuw N
Clin Genet; 2013 Nov; 84(5):415-21. PubMed ID: 23895381
[TBL] [Abstract][Full Text] [Related]
7. Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.
McMullan DJ; Bonin M; Hehir-Kwa JY; de Vries BB; Dufke A; Rattenberry E; Steehouwer M; Moruz L; Pfundt R; de Leeuw N; Riess A; Altug-Teber O; Enders H; Singer S; Grasshoff U; Walter M; Walker JM; Lamb CV; Davison EV; Brueton L; Riess O; Veltman JA
Hum Mutat; 2009 Jul; 30(7):1082-92. PubMed ID: 19388127
[TBL] [Abstract][Full Text] [Related]
8. Oligonucleotide microarrays in constitutional genetic diagnosis.
Keren B; Le Caignec C
Expert Rev Mol Diagn; 2011 Jun; 11(5):521-32. PubMed ID: 21707460
[TBL] [Abstract][Full Text] [Related]
9. Microdeletion and microduplication syndromes.
Vissers LE; Stankiewicz P
Methods Mol Biol; 2012; 838():29-75. PubMed ID: 22228006
[TBL] [Abstract][Full Text] [Related]
10. Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
Hoyer J; Dreweke A; Becker C; Göhring I; Thiel CT; Peippo MM; Rauch R; Hofbeck M; Trautmann U; Zweier C; Zenker M; Hüffmeier U; Kraus C; Ekici AB; Rüschendorf F; Nürnberg P; Reis A; Rauch A
J Med Genet; 2007 Oct; 44(10):629-36. PubMed ID: 17601928
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.
Hochstenbach R; Buizer-Voskamp JE; Vorstman JA; Ophoff RA
Cytogenet Genome Res; 2011; 135(3-4):174-202. PubMed ID: 22056632
[TBL] [Abstract][Full Text] [Related]
13. [Genomic abnormalities in children with mental retardation and autism: the use of comparative genomic hybridization in situ (HRCGH) and molecular karyotyping with DNA-microchips (array CGH)].
Vorsanova SG; Iurov IIu; Kurinnaia OS; Voinova VIu; Iurov IuB
Zh Nevrol Psikhiatr Im S S Korsakova; 2013; 113(8):46-9. PubMed ID: 24077551
[TBL] [Abstract][Full Text] [Related]
14. [Analysis of copy number variations in 66 children with unexplained mental retardation/developmental delay using chromosomal microarrays].
Li Y; Qiu W; Ye J; Han L; Zhang H; Gu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):703-7. PubMed ID: 25449071
[TBL] [Abstract][Full Text] [Related]
15. Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
Bruno DL; Stark Z; Amor DJ; Burgess T; Butler K; Corrie S; Francis D; Ganesamoorthy D; Hills L; James PA; O'Rielly D; Oertel R; Savarirayan R; Prabhakara K; Salce N; Slater HR
Hum Mutat; 2011 Dec; 32(12):1500-6. PubMed ID: 21850686
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).
Schoumans J; Ruivenkamp C; Holmberg E; Kyllerman M; Anderlid BM; Nordenskjöld M
J Med Genet; 2005 Sep; 42(9):699-705. PubMed ID: 16141005
[TBL] [Abstract][Full Text] [Related]
18. A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.
Männik K; Parkel S; Palta P; Zilina O; Puusepp H; Esko T; Mägi R; Nõukas M; Veidenberg A; Nelis M; Metspalu A; Remm M; Ounap K; Kurg A
Eur J Med Genet; 2011; 54(2):136-43. PubMed ID: 21112420
[TBL] [Abstract][Full Text] [Related]
19. Array CGH analysis of a cohort of Russian patients with intellectual disability.
Kashevarova AA; Nazarenko LP; Skryabin NA; Salyukova OA; Chechetkina NN; Tolmacheva EN; Sazhenova EA; Magini P; Graziano C; Romeo G; Kučinskas V; Lebedev IN
Gene; 2014 Feb; 536(1):145-50. PubMed ID: 24291026
[TBL] [Abstract][Full Text] [Related]
20. [Structural variations of the genome in autistic spectrum disorders with intellectual disability].
Iourov IY; Vorsanova SG; Korostelev SA; Vasin KS; Zelenova MA; Kurinnaia OS; Yurov YB
Zh Nevrol Psikhiatr Im S S Korsakova; 2016; 116(7):50-54. PubMed ID: 27500877
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]