258 related articles for article (PubMed ID: 27655541)
1. [Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].
Zhang LN; Meng Z; He ZW; Li DF; Luo XY; Liang LY
Zhongguo Dang Dai Er Ke Za Zhi; 2016 Sep; 18(9):840-845. PubMed ID: 27655541
[TBL] [Abstract][Full Text] [Related]
2. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Wayhelova M; Smetana J; Vallova V; Hladilkova E; Filkova H; Hanakova M; Vilemova M; Nikolova P; Gromesova B; Gaillyova R; Kuglik P
BMC Med Genomics; 2019 Jul; 12(1):111. PubMed ID: 31337399
[TBL] [Abstract][Full Text] [Related]
3. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
[TBL] [Abstract][Full Text] [Related]
4. Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
Wang R; Lei T; Fu F; Li R; Jing X; Yang X; Liu J; Li D; Liao C
Pediatr Neonatol; 2019 Feb; 60(1):35-42. PubMed ID: 29631977
[TBL] [Abstract][Full Text] [Related]
5. Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
Lee JS; Hwang H; Kim SY; Kim KJ; Choi JS; Woo MJ; Choi YM; Jun JK; Lim BC; Chae JH
Ann Lab Med; 2018 Sep; 38(5):473-480. PubMed ID: 29797819
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Application of chromosome microarray analysis in 489 children with developmental delay/intellectual disability].
Wang R; Lei T; Fu F; Li R; Jing X; Yang X; Pan M; Li D; Liao C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug; 34(4):528-533. PubMed ID: 28777852
[TBL] [Abstract][Full Text] [Related]
8. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
Lebedev IN; Nazarenko LP; Skryabin NA; Babushkina NP; Kashevarova AA
Am J Med Genet A; 2016 Aug; 170(8):2089-96. PubMed ID: 27288323
[TBL] [Abstract][Full Text] [Related]
9. [Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].
Hu T; Zhu H; Zhang Z; Wang J; Liu H; Zhang X; Zhang H; Du Z; Li L; Wang H; Liu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):169-172. PubMed ID: 28397211
[TBL] [Abstract][Full Text] [Related]
10. Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.
Sharma P; Gupta N; Chowdhury MR; Sapra S; Ghosh M; Gulati S; Kabra M
Gene; 2016 Sep; 590(1):109-19. PubMed ID: 27291820
[TBL] [Abstract][Full Text] [Related]
11. [Detection of genomic copy number variations in patients with unexplained mental retardation/developmental delay by low coverage whole-genome sequencing].
Song H; Shi P; Xiao Y; Hou Y; Chen D; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Sep; 37(9):953-957. PubMed ID: 32820506
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings.
Akkus N; Cubuk PO
Mol Biol Rep; 2024 Apr; 51(1):577. PubMed ID: 38664339
[TBL] [Abstract][Full Text] [Related]
14. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.
Wang HD; Liu L; Wu D; Li T; Cui CY; Zhang LZ; Wang CZ
J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28220983
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Sansović I; Ivankov AM; Bobinec A; Kero M; Barišić I
Croat Med J; 2017 Jun; 58(3):231-238. PubMed ID: 28613040
[TBL] [Abstract][Full Text] [Related]
17. Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.
Shin S; Yu N; Choi JR; Jeong S; Lee KA
Ann Lab Med; 2015 Sep; 35(5):510-8. PubMed ID: 26206688
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.
Kim HJ; Park CI; Lim JW; Lee GM; Cho E; Kim HJ
Yonsei Med J; 2018 May; 59(3):431-437. PubMed ID: 29611406
[TBL] [Abstract][Full Text] [Related]
19. [Analysis of copy number variations in 66 children with unexplained mental retardation/developmental delay using chromosomal microarrays].
Li Y; Qiu W; Ye J; Han L; Zhang H; Gu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):703-7. PubMed ID: 25449071
[TBL] [Abstract][Full Text] [Related]
20. Pathogenic recurrent copy number variants in 7,078 pregnancies via chromosomal microarray analysis.
Kang H; Chen Y; Wang L; Gao C; Li X; Hu Y
J Perinat Med; 2024 Feb; 52(2):171-180. PubMed ID: 38081620
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]