96 related articles for article (PubMed ID: 24315824)
1. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Tarsitano M; Ceglia C; Novelli A; Capalbo A; Lombardo B; Pastore L; Fioretti G; Vicari L; Pisanti MA; Friso P; Cavaliere ML
Gene; 2014 Feb; 536(1):213-6. PubMed ID: 24315824
[TBL] [Abstract][Full Text] [Related]
2. Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.
Fischer M; Klopocki E
Cytogenet Genome Res; 2020; 160(11-12):659-663. PubMed ID: 33472199
[TBL] [Abstract][Full Text] [Related]
3. Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
Mary L; Lavillaureix A; Perrot A; Loget P; Launay E; Leborgne AS; Demurger F; Fradin M; Le Bouar G; Quélin C; Dubourg C; Pasquier L; Odent S; Belaud-Rotureau MA; Jaillard S
Eur J Med Genet; 2022 Feb; 65(2):104422. PubMed ID: 35026468
[TBL] [Abstract][Full Text] [Related]
4. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Coppinger J; McDonald-McGinn D; Zackai E; Shane K; Atkin JF; Asamoah A; Leland R; Weaver DD; Lansky-Shafer S; Schmidt K; Feldman H; Cohen W; Phalin J; Powell B; Ballif BC; Theisen A; Geiger E; Haldeman-Englert C; Shaikh TH; Saitta S; Bejjani BA; Shaffer LG
Hum Mol Genet; 2009 Apr; 18(8):1377-83. PubMed ID: 19193630
[TBL] [Abstract][Full Text] [Related]
5. 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
Barber JC; Hall V; Maloney VK; Huang S; Roberts AM; Brady AF; Foulds N; Bewes B; Volleth M; Liehr T; Mehnert K; Bateman M; White H
Eur J Hum Genet; 2013 Feb; 21(2):182-9. PubMed ID: 22828807
[TBL] [Abstract][Full Text] [Related]
6. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
Ensenauer RE; Adeyinka A; Flynn HC; Michels VV; Lindor NM; Dawson DB; Thorland EC; Lorentz CP; Goldstein JL; McDonald MT; Smith WE; Simon-Fayard E; Alexander AA; Kulharya AS; Ketterling RP; Clark RD; Jalal SM
Am J Hum Genet; 2003 Nov; 73(5):1027-40. PubMed ID: 14526392
[TBL] [Abstract][Full Text] [Related]
7. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Zhao Y; Guo T; Fiksinski A; Breetvelt E; McDonald-McGinn DM; Crowley TB; Diacou A; Schneider M; Eliez S; Swillen A; Breckpot J; Vermeesch J; Chow EWC; Gothelf D; Duijff S; Evers R; van Amelsvoort TA; van den Bree M; Owen M; Niarchou M; Bearden CE; Ornstein C; Pontillo M; Buzzanca A; Vicari S; Armando M; Murphy KC; Murphy C; Garcia-Minaur S; Philip N; Campbell L; Morey-Cañellas J; Raventos J; Rosell J; Heine-Suner D; Shprintzen RJ; Gur RE; Zackai E; Emanuel BS; Wang T; Kates WR; Bassett AS; Vorstman JAS; Morrow BE;
Am J Med Genet A; 2018 Oct; 176(10):2172-2181. PubMed ID: 30289625
[TBL] [Abstract][Full Text] [Related]
8. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille A; Houcinat N; Vuillaume ML; Fergelot P; Boucher C; Toutain J; Caignec CL; Vincent M; Nizon M; Andrieux J; Vanlerberghe C; Delobel B; Duban B; Mansour S; Baple E; McKeown C; Poke G; Robertshaw K; Fifield E; Fabretto A; Pecile V; Gasparini P; Carrozzi M; Lacombe D; Arveiler B; Rooryck C; Moutton S
Eur J Hum Genet; 2018 Jan; 26(1):85-93. PubMed ID: 29184170
[TBL] [Abstract][Full Text] [Related]
9. Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.
Puech A; Saint-Jore B; Merscher S; Russell RG; Cherif D; Sirotkin H; Xu H; Factor S; Kucherlapati R; Skoultchi AI
Proc Natl Acad Sci U S A; 2000 Aug; 97(18):10090-5. PubMed ID: 10963672
[TBL] [Abstract][Full Text] [Related]
10. A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.
Egger J; Verhoeven W; Verbeeck W; Sinnema M; Stegmann A; Stuurop K; De Leeuw N
Clin Neuropsychiatry; 2023 Oct; 20(5):424-428. PubMed ID: 38089737
[TBL] [Abstract][Full Text] [Related]
11. A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.
Moschella A; Capra AP; Corica D; Pepe G; Di Tommaso S; Sallicandro E; Wasniewska MG; Briuglia S; Aversa T
BMC Med Genomics; 2023 Dec; 16(1):315. PubMed ID: 38049856
[TBL] [Abstract][Full Text] [Related]
12. A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.
Haltrich I; Pikó H; Kiss E; Tóth Z; Karcagi V; Fekete G
Mol Cytogenet; 2014; 7():37. PubMed ID: 24959203
[TBL] [Abstract][Full Text] [Related]
13. Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
Li D; Tekin M; Buch M; Fan YS
Mol Cytogenet; 2012 Apr; 5(1):18. PubMed ID: 22487416
[TBL] [Abstract][Full Text] [Related]
14. Reversal of proliferation deficits caused by chromosome 16p13.11 microduplication through targeting NFκB signaling: an integrated study of patient-derived neuronal precursor cells, cerebral organoids and in vivo brain imaging.
Johnstone M; Vasistha NA; Barbu MC; Dando O; Burr K; Christopher E; Glen S; Robert C; Fetit R; Macleod KG; Livesey MR; Clair DS; Blackwood DHR; Millar K; Carragher NO; Hardingham GE; Wyllie DJA; Johnstone EC; Whalley HC; McIntosh AM; Lawrie SM; Chandran S
Mol Psychiatry; 2019 Feb; 24(2):294-311. PubMed ID: 30401811
[TBL] [Abstract][Full Text] [Related]
15. Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
Guadagnolo D; Mastromoro G; Torres B; Marchionni E; di Palma F; Goldoni M; Cocciadiferro D; Novelli A; Bernardini L; Pizzuti A
Genes (Basel); 2023 Nov; 14(12):. PubMed ID: 38136979
[TBL] [Abstract][Full Text] [Related]
16. A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening.
Hicks MA; Lalonde E; Zoladz J; Gonik B; Ebrahim S
Case Rep Genet; 2023; 2023():9127430. PubMed ID: 38025940
[TBL] [Abstract][Full Text] [Related]
17. Noncoding RNAs in mental retardation.
Szulwach KE; Jin P; Alisch RS
Clin Genet; 2009 Mar; 75(3):209-19. PubMed ID: 19159391
[TBL] [Abstract][Full Text] [Related]
18. Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family.
Wang Y; Zhang P; Chai Y; Zang W
Mol Cytogenet; 2023 Oct; 16(1):28. PubMed ID: 37880750
[TBL] [Abstract][Full Text] [Related]
19. Severe Pediatric Dystonia Responding to Deep Brain Stimulation in 22q11.2 Microduplication Syndrome: Rare Clinical Presentation.
AlGethami HJ; Breitbart S; Warsi NM; Fasano A; Ibrahim GM; Gorodetsky C
Mov Disord Clin Pract; 2024 Mar; 11(3):309-311. PubMed ID: 38196101
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
