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260 related items for 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
    [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 23; 12(1):111. PubMed ID: 31337399
    [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 23; 61(8):459-464. PubMed ID: 29549028
    [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 23; 60(1):35-42. PubMed ID: 29631977
    [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 23; 38(5):473-480. PubMed ID: 29797819
    [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 15; 536(1):145-50. PubMed ID: 24291026
    [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 10; 34(4):528-533. PubMed ID: 28777852
    [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 10; 170(8):2089-96. PubMed ID: 27288323
    [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 10; 34(2):169-172. PubMed ID: 28397211
    [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 15; 590(1):109-19. PubMed ID: 27291820
    [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 10; 37(9):953-957. PubMed ID: 32820506
    [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 10; 17(6):589-99. PubMed ID: 23711909
    [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 25; 51(1):577. PubMed ID: 38664339
    [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 25; 19(4):. PubMed ID: 28220983
    [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 25; 63(6):548-557. PubMed ID: 30773728
    [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 14; 58(3):231-238. PubMed ID: 28613040
    [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 14; 35(5):510-8. PubMed ID: 26206688
    [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 14; 59(3):431-437. PubMed ID: 29611406
    [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 14; 31(6):703-7. PubMed ID: 25449071
    [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 26; 52(2):171-180. PubMed ID: 38081620
    [Abstract] [Full Text] [Related]

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