514 related articles for article (PubMed ID: 24068782)
21. Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.
Gillentine MA; Yin J; Bajic A; Zhang P; Cummock S; Kim JJ; Schaaf CP
Am J Hum Genet; 2017 Dec; 101(6):874-887. PubMed ID: 29129316
[TBL] [Abstract][Full Text] [Related]
22. Copy number variations in Saudi family with intellectual disability and epilepsy.
Naseer MI; Chaudhary AG; Rasool M; Kalamegam G; Ashgan FT; Assidi M; Ahmed F; Ansari SA; Zaidi SK; Jan MM; Al-Qahtani MH
BMC Genomics; 2016 Oct; 17(Suppl 9):757. PubMed ID: 27766957
[TBL] [Abstract][Full Text] [Related]
23. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR
J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696
[TBL] [Abstract][Full Text] [Related]
24. The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia; 2024 Mar; 65(3):792-804. PubMed ID: 38101940
[TBL] [Abstract][Full Text] [Related]
25. Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Tropeano M; Ahn JW; Dobson RJ; Breen G; Rucker J; Dixit A; Pal DK; McGuffin P; Farmer A; White PS; Andrieux J; Vassos E; Ogilvie CM; Curran S; Collier DA
PLoS One; 2013; 8(4):e61365. PubMed ID: 23637818
[TBL] [Abstract][Full Text] [Related]
26. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.
Tai DJ; Ragavendran A; Manavalan P; Stortchevoi A; Seabra CM; Erdin S; Collins RL; Blumenthal I; Chen X; Shen Y; Sahin M; Zhang C; Lee C; Gusella JF; Talkowski ME
Nat Neurosci; 2016 Mar; 19(3):517-22. PubMed ID: 26829649
[TBL] [Abstract][Full Text] [Related]
27. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Mäkitie O; Lindstrand A
J Clin Endocrinol Metab; 2017 Aug; 102(8):3029-3039. PubMed ID: 28605459
[TBL] [Abstract][Full Text] [Related]
28. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
Moreno-De-Luca A; Evans DW; Boomer KB; Hanson E; Bernier R; Goin-Kochel RP; Myers SM; Challman TD; Moreno-De-Luca D; Slane MM; Hare AE; Chung WK; Spiro JE; Faucett WA; Martin CL; Ledbetter DH
JAMA Psychiatry; 2015 Feb; 72(2):119-26. PubMed ID: 25493922
[TBL] [Abstract][Full Text] [Related]
29. Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Picinelli C; Lintas C; Piras IS; Gabriele S; Sacco R; Brogna C; Persico AM
Am J Med Genet B Neuropsychiatr Genet; 2016 Dec; 171(8):1088-1098. PubMed ID: 27566550
[TBL] [Abstract][Full Text] [Related]
30. Assessment of burden and segregation profiles of CNVs in patients with epilepsy.
Moreau C; Tremblay F; Wolking S; Girard A; Laprise C; Hamdan FF; Michaud JL; Minassian BA; Cossette P; Girard SL
Ann Clin Transl Neurol; 2022 Jul; 9(7):1050-1058. PubMed ID: 35678011
[TBL] [Abstract][Full Text] [Related]
31. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
[TBL] [Abstract][Full Text] [Related]
32. The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.
d'Orsi G; Martino T; Palumbo O; Pascarella MG; Palumbo P; Di Claudio MT; Avolio C; Carella M
Seizure; 2017 Dec; 53():86-93. PubMed ID: 29156220
[TBL] [Abstract][Full Text] [Related]
33. Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder.
Kogan JH; Gross AK; Featherstone RE; Shin R; Chen Q; Heusner CL; Adachi M; Lin A; Walton NM; Miyoshi S; Miyake S; Tajinda K; Ito H; Siegel SJ; Matsumoto M
J Neurosci; 2015 Dec; 35(49):16282-94. PubMed ID: 26658876
[TBL] [Abstract][Full Text] [Related]
34. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
van Bon BW; Mefford HC; Menten B; Koolen DA; Sharp AJ; Nillesen WM; Innis JW; de Ravel TJ; Mercer CL; Fichera M; Stewart H; Connell LE; Ounap K; Lachlan K; Castle B; Van der Aa N; van Ravenswaaij C; Nobrega MA; Serra-Juhé C; Simonic I; de Leeuw N; Pfundt R; Bongers EM; Baker C; Finnemore P; Huang S; Maloney VK; Crolla JA; van Kalmthout M; Elia M; Vandeweyer G; Fryns JP; Janssens S; Foulds N; Reitano S; Smith K; Parkel S; Loeys B; Woods CG; Oostra A; Speleman F; Pereira AC; Kurg A; Willatt L; Knight SJ; Vermeesch JR; Romano C; Barber JC; Mortier G; Pérez-Jurado LA; Kooy F; Brunner HG; Eichler EE; Kleefstra T; de Vries BB
J Med Genet; 2009 Aug; 46(8):511-23. PubMed ID: 19372089
[TBL] [Abstract][Full Text] [Related]
35. miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability.
Qiao Y; Badduke C; Mercier E; Lewis SM; Pavlidis P; Rajcan-Separovic E
BMC Genomics; 2013 Aug; 14():544. PubMed ID: 23937676
[TBL] [Abstract][Full Text] [Related]
36. Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.
Hartmann C; von Spiczak S; Suls A; Weckhuysen S; Buyse G; Vilain C; Van Bogaert P; De Jonghe P; Cook J; Muhle H; Stephani U; Helbig I; Mefford HC
Epilepsia; 2015 Mar; 56(3):e26-32. PubMed ID: 25690317
[TBL] [Abstract][Full Text] [Related]
37. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Bassett AS; Lowther C; Merico D; Costain G; Chow EWC; van Amelsvoort T; McDonald-McGinn D; Gur RE; Swillen A; Van den Bree M; Murphy K; Gothelf D; Bearden CE; Eliez S; Kates W; Philip N; Sashi V; Campbell L; Vorstman J; Cubells J; Repetto GM; Simon T; Boot E; Heung T; Evers R; Vingerhoets C; van Duin E; Zackai E; Vergaelen E; Devriendt K; Vermeesch JR; Owen M; Murphy C; Michaelovosky E; Kushan L; Schneider M; Fremont W; Busa T; Hooper S; McCabe K; Duijff S; Isaev K; Pellecchia G; Wei J; Gazzellone MJ; Scherer SW; Emanuel BS; Guo T; Morrow BE; Marshall CR;
Am J Psychiatry; 2017 Nov; 174(11):1054-1063. PubMed ID: 28750581
[TBL] [Abstract][Full Text] [Related]
38. Clinical features and magnesium levels: Novel insights in 15q11.2 BP1-BP2 copy number variants.
Meossi C; Carrer A; Ciaccio C; Estienne M; Silipigni R; Sciacca FL; Pantaleoni C; D'Arrigo S; Milani D
J Intellect Disabil Res; 2023 Jul; 67(7):679-689. PubMed ID: 37129092
[TBL] [Abstract][Full Text] [Related]
39. Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia.
Rees E; Kendall K; Pardiñas AF; Legge SE; Pocklington A; Escott-Price V; MacCabe JH; Collier DA; Holmans P; O'Donovan MC; Owen MJ; Walters JTR; Kirov G
JAMA Psychiatry; 2016 Sep; 73(9):963-969. PubMed ID: 27602560
[TBL] [Abstract][Full Text] [Related]
40. Array-CGH in children with mild intellectual disability: a population-based study.
Coutton C; Dieterich K; Satre V; Vieville G; Amblard F; David M; Cans C; Jouk PS; Devillard F
Eur J Pediatr; 2015 Jan; 174(1):75-83. PubMed ID: 24985125
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
