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Quoted phrase not found in phrase index: "Mosaic variegated aneuploidy syndrome 3"
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Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N. Langeh N, et al. Clin Genet. 2023 Apr;103(4):478-483. doi: 10.1111/cge.14297. Epub 2023 Jan 23. Clin Genet. 2023. PMID: 36635612
Mosaic variegated aneuploidy syndrome 2 (MVA2) (MIM# 614114) is a rare autosomal recessive condition caused by biallelic loss of function variants in the CEP57 gene. ...Molecular characterization demonstrated skipping of exon 3 due to the variant with …
Mosaic variegated aneuploidy syndrome 2 (MVA2) (MIM# 614114) is a rare autosomal recessive condition caused by b …
Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.
Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E. Alamillo CM, et al. Prenat Diagn. 2013 Mar;33(3):251-6. doi: 10.1002/pd.4054. Epub 2013 Jan 27. Prenat Diagn. 2013. PMID: 23354915
METHODS: Maternal age, nuchal translucency, and maternal serum levels of pregnancy-associated plasma protein A and free beta human chorionic gonadotrophin comprised first-trimester risk assessment for Down syndrome and trisomies 13/18. Means, screen positive rates, detection rate …
METHODS: Maternal age, nuchal translucency, and maternal serum levels of pregnancy-associated plasma protein A and free beta human chorionic …
Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.
Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS. Schick UM, et al. PLoS One. 2013;8(3):e59823. doi: 10.1371/journal.pone.0059823. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533652 Free PMC article.
Chromosomal abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive of malignant transformation in individuals without apparent clinical presentation of a hematologic cancer. ...
Chromosomal abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive …