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chromosomal disease相关文献:
Prenatal diagnosis by chromosomal microarray analysis.
Levy B, Wapner R.
Fertil Steril. 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005.
PMID:29447663
Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P.
Epilepsia Open. 2024 Aug;9(4):1192-1232. doi: 10.1002/epi4.12951. Epub 2024 Jun 4.
PMID:38837855
Sex chromosome aneuploidies.
Skuse D, Printzlau F, Wolstencroft J.
Handb Clin Neurol. 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5.
PMID:29325624
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.
Moore SW.
Pediatr Surg Int. 2012 Nov;28(11):1045-58. doi: 10.1007/s00383-012-3175-6. Epub 2012 Sep 23.
PMID:23001136
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P.
Acta Paediatr. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Epub 2011 Apr 8.
PMID:21342258
Contiguous Gene Syndromes.
Pereira E, Marion R.
Pediatr Rev. 2018 Jan;39(1):46-49. doi: 10.1542/pir.2016-0073.
PMID:29292292
Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.
Wang Y, Cao L, Liang D, Meng L, Wu Y, Qiao F, Ji X, Luo C, Zhang J, Xu T, Yu B, Wang L, Wang T, Pan Q, Ma D, Hu P, Xu Z.
Am J Obstet Gynecol. 2018 Feb;218(2):244.e1-244.e17. doi: 10.1016/j.ajog.2017.10.225. Epub 2017 Nov 8.
PMID:29128521
Pallister-Killian syndrome.
Izumi K, Krantz ID.
Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):406-13. doi: 10.1002/ajmg.c.31423. Epub 2014 Nov 25.
PMID:25425112
Chromosomal aberrations and disease.
HAYMAN DL.
Med J Aust. 1963 Mar 16;50(1):387-8.
PMID:13963585
Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses.
Sahajpal NS, Barseghyan H, Kolhe R, Hastie A, Chaubey A.
Genes (Basel). 2021 Mar 11;12(3):398. doi: 10.3390/genes12030398.
PMID:33799648
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