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68 results

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Interdisciplinary care of children with trisomy 13 and 18.
Weaver MS, Anderson V, Beck J, Delaney JW, Ellis C, Fletcher S, Hammel J, Haney S, Macfadyen A, Norton B, Rickard M, Robinson JA, Sewell R, Starr L, Birge ND. Weaver MS, et al. Am J Med Genet A. 2021 Mar;185(3):966-977. doi: 10.1002/ajmg.a.62051. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33381915 Review.
Holoprosencephaly.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B13-B16. doi: 10.1016/j.ajog.2020.08.178. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168217 Review. No abstract available.
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Rose NC, et al. Genet Med. 2022 Jul;24(7):1379-1391. doi: 10.1016/j.gim.2022.03.019. Epub 2022 May 24. Genet Med. 2022. PMID: 35608568 Free article. Review.
A tumor profile in Patau syndrome (trisomy 13).
Satgé D, Nishi M, Sirvent N, Vekemans M, Chenard MP, Barnes A. Satgé D, et al. Am J Med Genet A. 2017 Aug;173(8):2088-2096. doi: 10.1002/ajmg.a.38294. Epub 2017 May 25. Am J Med Genet A. 2017. PMID: 28544599 Review.
Pseudo-trisomy 13 syndrome.
Cohen MM Jr, Gorlin RJ. Cohen MM Jr, et al. Am J Med Genet. 1991 Jun 1;39(3):332-5; discussion 336-7. doi: 10.1002/ajmg.1320390316. Am J Med Genet. 1991. PMID: 1867286 Review.
We have coined the term "pseudo-trisomy 13 syndrome" to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. ...
We have coined the term "pseudo-trisomy 13 syndrome" to designate cases of holoprosencephaly, severe facial anomalies, …
Prenatal reflex DNA screening for trisomy 21, 18 and 13.
Wald NJ. Wald NJ. Expert Rev Mol Diagn. 2018 May;18(5):399-401. doi: 10.1080/14737159.2018.1462703. Epub 2018 Apr 24. Expert Rev Mol Diagn. 2018. PMID: 29633889 Review. No abstract available.
68 results