212 related articles for article (PubMed ID: 22828807)
41. Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
Chen CP; Lin SP; Chern SR; Tsai FJ; Lee MS; Chen YJ; Wang W
Genet Couns; 2011; 22(4):425-30. PubMed ID: 22303804
[TBL] [Abstract][Full Text] [Related]
42. Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.
Vysotskiy M; Zhong X; Miller-Fleming TW; Zhou D; ; ; ; Cox NJ; Weiss LA
Genome Med; 2021 Oct; 13(1):172. PubMed ID: 34715901
[TBL] [Abstract][Full Text] [Related]
43. A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.
Okamoto N; Fujii T; Tanaka J; Saito K; Matsui T; Harada N
Am J Med Genet A; 2014 Jan; 164A(1):213-9. PubMed ID: 24259393
[TBL] [Abstract][Full Text] [Related]
44. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Siu MT; Butcher DT; Turinsky AL; Cytrynbaum C; Stavropoulos DJ; Walker S; Caluseriu O; Carter M; Lou Y; Nicolson R; Georgiades S; Szatmari P; Anagnostou E; Scherer SW; Choufani S; Brudno M; Weksberg R
Clin Epigenetics; 2019 Jul; 11(1):103. PubMed ID: 31311581
[TBL] [Abstract][Full Text] [Related]
45. Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Sønderby IE; Gústafsson Ó; Doan NT; Hibar DP; Martin-Brevet S; Abdellaoui A; Ames D; Amunts K; Andersson M; Armstrong NJ; Bernard M; Blackburn N; Blangero J; Boomsma DI; Bralten J; Brattbak HR; Brodaty H; Brouwer RM; Bülow R; Calhoun V; Caspers S; Cavalleri G; Chen CH; Cichon S; Ciufolini S; Corvin A; Crespo-Facorro B; Curran JE; Dale AM; Dalvie S; Dazzan P; de Geus EJC; de Zubicaray GI; de Zwarte SMC; Delanty N; den Braber A; Desrivières S; Donohoe G; Draganski B; Ehrlich S; Espeseth T; Fisher SE; Franke B; Frouin V; Fukunaga M; Gareau T; Glahn DC; Grabe H; Groenewold NA; Haavik J; Håberg A; Hashimoto R; Hehir-Kwa JY; Heinz A; Hillegers MHJ; Hoffmann P; Holleran L; Hottenga JJ; Hulshoff HE; Ikeda M; Jahanshad N; Jernigan T; Jockwitz C; Johansson S; Jonsdottir GA; Jönsson EG; Kahn R; Kaufmann T; Kelly S; Kikuchi M; Knowles EEM; Kolskår KK; Kwok JB; Hellard SL; Leu C; Liu J; Lundervold AJ; Lundervold A; Martin NG; Mather K; Mathias SR; McCormack M; McMahon KL; McRae A; Milaneschi Y; Moreau C; Morris D; Mothersill D; Mühleisen TW; Murray R; Nordvik JE; Nyberg L; Olde Loohuis LM; Ophoff R; Paus T; Pausova Z; Penninx B; Peralta JM; Pike B; Prieto C; Pudas S; Quinlan E; Quintana DS; Reinbold CS; Marques TR; Reymond A; Richard G; Rodriguez-Herreros B; Roiz-Santiañez R; Rokicki J; Rucker J; Sachdev P; Sanders AM; Sando SB; Schmaal L; Schofield PR; Schork AJ; Schumann G; Shin J; Shumskaya E; Sisodiya S; Steen VM; Stein DJ; Steinberg S; Strike L; Teumer A; Thalamuthu A; Tordesillas-Gutierrez D; Turner J; Ueland T; Uhlmann A; Ulfarsson MO; van 't Ent D; van der Meer D; van Haren NEM; Vaskinn A; Vassos E; Walters GB; Wang Y; Wen W; Whelan CD; Wittfeld K; Wright M; Yamamori H; Zayats T; Agartz I; Westlye LT; Jacquemont S; Djurovic S; Stefánsson H; Stefánsson K; Thompson P; Andreassen OA;
Mol Psychiatry; 2020 Mar; 25(3):584-602. PubMed ID: 30283035
[TBL] [Abstract][Full Text] [Related]
46. Developmental trajectories for young children with 16p11.2 copy number variation.
Bernier R; Hudac CM; Chen Q; Zeng C; Wallace AS; Gerdts J; Earl R; Peterson J; Wolken A; Peters A; Hanson E; Goin-Kochel RP; Kanne S; Snyder LG; Chung WK;
Am J Med Genet B Neuropsychiatr Genet; 2017 Jun; 174(4):367-380. PubMed ID: 28349640
[TBL] [Abstract][Full Text] [Related]
47. An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
Ceylan AC; Sahin I; Erdem HB; Kayhan G; Simsek-Kiper PO; Utine GE; Percin F; Boduroglu K; Alikasifoglu M
J Intellect Disabil Res; 2019 Jun; 63(6):548-557. PubMed ID: 30773728
[TBL] [Abstract][Full Text] [Related]
48. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Fernandez BA; Roberts W; Chung B; Weksberg R; Meyn S; Szatmari P; Joseph-George AM; Mackay S; Whitten K; Noble B; Vardy C; Crosbie V; Luscombe S; Tucker E; Turner L; Marshall CR; Scherer SW
J Med Genet; 2010 Mar; 47(3):195-203. PubMed ID: 19755429
[TBL] [Abstract][Full Text] [Related]
49. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Tenorio J; Nevado J; González-Meneses A; Arias P; Dapía I; Venegas-Vega CA; Calvente M; Hernández A; Landera L; Ramos S; ; Cigudosa JC; Pérez-Jurado LA; Lapunzina P
Clin Genet; 2020 Mar; 97(3):467-476. PubMed ID: 31972898
[TBL] [Abstract][Full Text] [Related]
50. M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.
Behjati F; Shafaghati Y; Firouzabadi SG; Kahrizi K; Bagherizadeh I; Najmabadi H; Bint S; Ogilvie C
Eur J Med Genet; 2008; 51(6):608-14. PubMed ID: 18674645
[TBL] [Abstract][Full Text] [Related]
51. 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]
52. The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents.
Morožin Pohovski L; Sansović I; Vulin K; Odak L
Croat Med J; 2023 Oct; 64(5):339-343. PubMed ID: 37927188
[TBL] [Abstract][Full Text] [Related]
53. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Wolfe K; McQuillin A; Alesi V; Boudry Labis E; Cutajar P; Dallapiccola B; Dentici ML; Dieux-Coeslier A; Duban-Bedu B; Duelund Hjortshøj T; Goel H; Loddo S; Morrogh D; Mosca-Boidron AL; Novelli A; Olivier-Faivre L; Parker J; Parker MJ; Patch C; Pelling AL; Smol T; Tümer Z; Vanakker O; van Haeringen A; Vanlerberghe C; Strydom A; Skuse D; Bass N
Am J Med Genet B Neuropsychiatr Genet; 2018 Jun; 177(4):397-405. PubMed ID: 29603867
[TBL] [Abstract][Full Text] [Related]
54. 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]
55. Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis.
Liu L; Wang J; Liu X; Wang J; Chen L; Zhu H; Mai J; Hu T; Liu S
Clin Chim Acta; 2024 Jan; 552():117671. PubMed ID: 37984529
[TBL] [Abstract][Full Text] [Related]
56. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.
Filges I; Sparagana S; Sargent M; Selby K; Schlade-Bartusiak K; Lueder GT; Robichaux-Viehoever A; Schlaggar BL; Shimony JS; Shinawi M
Am J Med Genet A; 2014 Aug; 164A(8):2003-12. PubMed ID: 24891046
[TBL] [Abstract][Full Text] [Related]
57. 16p11.2 microdeletion syndrome: a case report.
Dell'Edera D; Dilucca C; Allegretti A; Simone F; Lupo MG; Liccese C; Davanzo R
J Med Case Rep; 2018 Apr; 12(1):90. PubMed ID: 29609622
[TBL] [Abstract][Full Text] [Related]
58. Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.
Jenkins J; Chow V; Blaskey L; Kuschner E; Qasmieh S; Gaetz L; Edgar JC; Mukherjee P; Buckner R; Nagarajan SS; Chung WK; Spiro JE; Sherr EH; Berman JI; Roberts TP
Cereb Cortex; 2016 May; 26(5):1957-64. PubMed ID: 25678630
[TBL] [Abstract][Full Text] [Related]
59. 7p22.1 microduplication syndrome: Refinement of the critical region.
Ronzoni L; Grassi FS; Pezzani L; Tucci A; Baccarin M; Esposito S; Milani D
Eur J Med Genet; 2017 Feb; 60(2):114-117. PubMed ID: 27866048
[TBL] [Abstract][Full Text] [Related]
60. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM; Lal D; Lebon S; Hildebrand MS; Dahl HH; Regan BM; Feucht M; Steinböck H; Neophytou B; Ronen GM; Roche L; Gruber-Sedlmayr U; Geldner J; Haberlandt E; Hoffmann P; Herms S; Gieger C; Waldenberger M; Franke A; Wittig M; Schoch S; Becker AJ; Hahn A; Männik K; Toliat MR; Winterer G; ; Lerche H; Nürnberg P; Mefford H; Scheffer IE; Berkovic SF; Beckmann JS; ; ; Sander T; Jacquemont S; Reymond A; Zimprich F; Neubauer BA
Hum Mol Genet; 2014 Nov; 23(22):6069-80. PubMed ID: 24939913
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
