364 related articles for article (PubMed ID: 22083797)
1. 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]
2. 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]
3. Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
Borlot F; Regan BM; Bassett AS; Stavropoulos DJ; Andrade DM
JAMA Neurol; 2017 Nov; 74(11):1301-1311. PubMed ID: 28846756
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Genetic predisposition in degenerative lumbar scoliosis due to the copy number variation.
Shin JH; Ha KY; Jung SH; Chung YJ
Spine (Phila Pa 1976); 2011 Oct; 36(21):1782-93. PubMed ID: 21587107
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Microdeletion and microduplication syndromes.
Vissers LE; Stankiewicz P
Methods Mol Biol; 2012; 838():29-75. PubMed ID: 22228006
[TBL] [Abstract][Full Text] [Related]
8. Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
Shimojima K; Sugawara M; Shichiji M; Mukaida S; Takayama R; Imai K; Yamamoto T
J Hum Genet; 2011 Aug; 56(8):561-5. PubMed ID: 21633362
[TBL] [Abstract][Full Text] [Related]
9. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.
Koolen DA; Pfundt R; de Leeuw N; Hehir-Kwa JY; Nillesen WM; Neefs I; Scheltinga I; Sistermans E; Smeets D; Brunner HG; van Kessel AG; Veltman JA; de Vries BB
Hum Mutat; 2009 Mar; 30(3):283-92. PubMed ID: 19085936
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Bruno DL; Ganesamoorthy D; Schoumans J; Bankier A; Coman D; Delatycki M; Gardner RJ; Hunter M; James PA; Kannu P; McGillivray G; Pachter N; Peters H; Rieubland C; Savarirayan R; Scheffer IE; Sheffield L; Tan T; White SM; Yeung A; Bowman Z; Ngo C; Choy KW; Cacheux V; Wong L; Amor DJ; Slater HR
J Med Genet; 2009 Feb; 46(2):123-31. PubMed ID: 19015223
[TBL] [Abstract][Full Text] [Related]
12. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.
Fan YS; Jayakar P; Zhu H; Barbouth D; Sacharow S; Morales A; Carver V; Benke P; Mundy P; Elsas LJ
Hum Mutat; 2007 Nov; 28(11):1124-32. PubMed ID: 17621639
[TBL] [Abstract][Full Text] [Related]
13. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
Lesch KP; Selch S; Renner TJ; Jacob C; Nguyen TT; Hahn T; Romanos M; Walitza S; Shoichet S; Dempfle A; Heine M; Boreatti-Hümmer A; Romanos J; Gross-Lesch S; Zerlaut H; Wultsch T; Heinzel S; Fassnacht M; Fallgatter A; Allolio B; Schäfer H; Warnke A; Reif A; Ropers HH; Ullmann R
Mol Psychiatry; 2011 May; 16(5):491-503. PubMed ID: 20308990
[TBL] [Abstract][Full Text] [Related]
14. Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
Jaillard S; Drunat S; Bendavid C; Aboura A; Etcheverry A; Journel H; Delahaye A; Pasquier L; Bonneau D; Toutain A; Burglen L; Guichet A; Pipiras E; Gilbert-Dussardier B; Benzacken B; Martin-Coignard D; Henry C; David A; Lucas J; Mosser J; David V; Odent S; Verloes A; Dubourg C
Eur J Med Genet; 2010; 53(2):66-75. PubMed ID: 19878743
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C; Andrieux J; Béri-Dexheimer M; Leheup B; Boute O; Manouvrier S; Delobel B; Copin H; Receveur A; Mathieu M; Thiriez G; Le Caignec C; David A; de Blois MC; Malan V; Philippe A; Cormier-Daire V; Colleaux L; Flori E; Dollfus H; Pelletier V; Thauvin-Robinet C; Masurel-Paulet A; Faivre L; Tardieu M; Bahi-Buisson N; Callier P; Mugneret F; Edery P; Jonveaux P; Sanlaville D
J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
[TBL] [Abstract][Full Text] [Related]
17. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
Honda S; Hayashi S; Imoto I; Toyama J; Okazawa H; Nakagawa E; Goto Y; Inazawa J
J Hum Genet; 2010 Sep; 55(9):590-9. PubMed ID: 20613765
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Li F; Shen Y; Köhler U; Sharkey FH; Menon D; Coulleaux L; Malan V; Rio M; McMullan DJ; Cox H; Fagan KA; Gaunt L; Metcalfe K; Heinrich U; Hislop G; Maye U; Sutcliffe M; Wu BL; Thiel BD; Mulchandani S; Conlin LK; Spinner NB; Murphy KM; Batista DA
Eur J Med Genet; 2010; 53(2):93-9. PubMed ID: 20132918
[TBL] [Abstract][Full Text] [Related]
20. Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).
Broli M; Bisulli F; Mastrangelo M; Fontana E; Fiocchi I; Zucca C; Bonaglia MC; Buono S; Musumeci SA; Romano C; Reitano S; Savio M; Vitello GA; Bernardi B; Cevolani D; Agati R; Poda R; Gallassi R; Giorda R; Zuffardi O; Bernardina BD; Seri M; Tinuper P
Epileptic Disord; 2011 Sep; 13(3):240-51. PubMed ID: 21926047
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
