65 related articles for article (PubMed ID: 21971480)
1. 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]
2. 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]
3. Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.
Kennedy BJ; Savage SK; Kaler SG
Mol Genet Genomic Med; 2024 May; 12(5):e2436. PubMed ID: 38738460
[TBL] [Abstract][Full Text] [Related]
4. Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects.
Lin S; Huang S; Ou X; Gu H; Wang Y; Li P; Zhou Y
Mol Cytogenet; 2021 May; 14(1):26. PubMed ID: 34006293
[TBL] [Abstract][Full Text] [Related]
5. Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications.
Corrêa T; Santos-Rebouças CB; Mayndra M; Schinzel A; Riegel M
Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33922640
[TBL] [Abstract][Full Text] [Related]
6. Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation.
Liu T; Xie H; Zhang J; Wang X; Sha J; Zhai J
J Obstet Gynaecol Res; 2020 Sep; 46(9):1900-1906. PubMed ID: 32643293
[TBL] [Abstract][Full Text] [Related]
7. Interstitial duplication of 8q22.1-q23.1- A case report and review of the literature.
Leary S; Porterfield HS; Kotlarek JR; Darbro BW; Sidhu A
Clin Case Rep; 2019 Dec; 7(12):2393-2397. PubMed ID: 31893066
[TBL] [Abstract][Full Text] [Related]
8. Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
Marchuk DS; Crooks K; Strande N; Kaiser-Rogers K; Milko LV; Brandt A; Arreola A; Tilley CR; Bizon C; Vora NL; Wilhelmsen KC; Evans JP; Berg JS
PLoS One; 2018; 13(12):e0209185. PubMed ID: 30557390
[TBL] [Abstract][Full Text] [Related]
9. Neuroimaging Features of San Luis Valley Syndrome.
Whitehead MT; Lee B
Case Rep Radiol; 2015; 2015():748413. PubMed ID: 26425383
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic variability of a terminal 7q deletion/8q duplication in Korean siblings.
Kwun Y; Seo EJ; Yoo HW; Lee BS; Kim KS; Kim EA
Ann Lab Med; 2015 Sep; 35(5):557-60. PubMed ID: 26206699
[No Abstract] [Full Text] [Related]
11. A rare interstitial duplication of 8q22.1-8q24.3 associated with syndromic bilateral cleft lip/palate.
Rezek RF; Rodrigues Abbas AA; Forte Mazzeu J; Duarte Miranda SM; Velloso-Rodrigues C
Case Rep Dent; 2014; 2014():730375. PubMed ID: 25506438
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
Brisset S; Joly G; Ozilou C; Lapierre JM; Gosset P; LeLorc'h M; Raoul O; Turleau C; Vekemans M; Romana SP
Am J Med Genet; 2002 Dec; 113(4):339-45. PubMed ID: 12457405
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
Peeters H; Vermeesch J; Fryns JP
Genet Couns; 2008; 19(4):365-71. PubMed ID: 19239079
[TBL] [Abstract][Full Text] [Related]
15. De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.
Bartolini L; Sartori S; Lenzini E; Rigon C; Cainelli E; Agrati C; Toldo I; Donà M; Trevisson E
Gene; 2013 Jul; 524(2):368-72. PubMed ID: 23612255
[TBL] [Abstract][Full Text] [Related]
16. Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.
Sohn YB; Yun JN; Park SJ; Park MS; Kim SH; Lee JH
Ann Clin Lab Sci; 2013; 43(3):332-6. PubMed ID: 23884231
[TBL] [Abstract][Full Text] [Related]
17. A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.
Concolino D; Iembo MA; Moricca MT; Rapsomaniki M; Marotta R; Galesi O; Fichera M; Romano C; Strisciuglio P
Eur J Med Genet; 2012 Jan; 55(1):67-70. PubMed ID: 21971480
[TBL] [Abstract][Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
