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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 5
1965 6
1966 9
1967 6
1968 5
1969 4
1970 11
1971 16
1972 21
1973 16
1974 16
1975 23
1976 18
1977 18
1978 21
1979 15
1980 14
1981 12
1982 19
1983 16
1984 27
1985 24
1986 23
1987 34
1988 30
1989 42
1990 53
1991 37
1992 61
1993 66
1994 74
1995 58
1996 70
1997 65
1998 69
1999 75
2000 106
2001 77
2002 81
2003 96
2004 104
2005 78
2006 114
2007 96
2008 99
2009 97
2010 109
2011 134
2012 165
2013 187
2014 186
2015 165
2016 168
2017 210
2018 188
2019 224
2020 260
2021 227
2022 203
2023 222
2024 72

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4,327 results

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Page 1
Mosaicism for trisomy 21: a review.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C. Papavassiliou P, et al. Am J Med Genet A. 2015 Jan;167A(1):26-39. doi: 10.1002/ajmg.a.36861. Epub 2014 Nov 20. Am J Med Genet A. 2015. PMID: 25412855 Review.
The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. ...Additional topics reviewed include the social conditions of people with mosaicism, as well as age-related and epigenetic alterations observe …
The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. ...Additio …
Pigmentary mosaicism.
Schaffer JV. Schaffer JV. Clin Dermatol. 2022 Jul-Aug;40(4):322-338. doi: 10.1016/j.clindermatol.2022.02.005. Epub 2022 Mar 12. Clin Dermatol. 2022. PMID: 35288277
Pigmentary mosaicism refers to patterned hypo- and/or hyperpigmentation that results from genetic heterogeneity of skin cells. ...A practical approach to the diagnosis and evaluation of patients with pigmentary mosaicism is provided, including clues to distinguish o …
Pigmentary mosaicism refers to patterned hypo- and/or hyperpigmentation that results from genetic heterogeneity of skin cells. ...A p …
Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature.
Eggenhuizen GM, Go A, Koster MPH, Baart EB, Galjaard RJ. Eggenhuizen GM, et al. Hum Reprod Update. 2021 Aug 20;27(5):885-903. doi: 10.1093/humupd/dmab009. Hum Reprod Update. 2021. PMID: 33984128 Free PMC article. Review.
Mosaicism at all different stages can be associated with adverse pregnancy outcomes. ...More understanding of the biological mechanisms behind CPM will help in prioritizing embryos for transfer after the detection of mosaicism in embryos through PGT-A....
Mosaicism at all different stages can be associated with adverse pregnancy outcomes. ...More understanding of the biological mechanis …
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Treff NR, Marin D. Treff NR, et al. Fertil Steril. 2021 Nov;116(5):1205-1211. doi: 10.1016/j.fertnstert.2021.06.027. Epub 2021 Jul 23. Fertil Steril. 2021. PMID: 34304887 Free article. Review.
Ongoing issues include what patient population, if any, benefits from PGT-A, the true frequency of chromosomal mosaicism, whether embryonic aneuploidies self-correct, and how practitioners manage embryos designated as "mosaic." This review addresses several misconceptions …
Ongoing issues include what patient population, if any, benefits from PGT-A, the true frequency of chromosomal mosaicism, whether emb …
Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma.
Popovic M, Dhaenens L, Boel A, Menten B, Heindryckx B. Popovic M, et al. Hum Reprod Update. 2020 Apr 15;26(3):313-334. doi: 10.1093/humupd/dmz050. Hum Reprod Update. 2020. PMID: 32141501 Review.
Given that PGT-A relies on the chromosomal constitution of the biopsied cells being representative of the entire embryo, the prevalence and clinical implications of blastocyst mosaicism continue to generate considerable controversy. OBJECTIVE AND RATIONALE: The objective o …
Given that PGT-A relies on the chromosomal constitution of the biopsied cells being representative of the entire embryo, the prevalence and …
Mosaicism in genodermatoses.
Cheraghlou S, Lim Y, Choate KA. Cheraghlou S, et al. Clin Dermatol. 2020 Jul-Aug;38(4):408-420. doi: 10.1016/j.clindermatol.2020.03.008. Epub 2020 Mar 27. Clin Dermatol. 2020. PMID: 32972600 Review.
The majority of these disorders, particularly in cases that present with a cutaneous patterning, may be explained in the context of genetic mosaicism. Despite the barriers to the genetic analysis of mosaic disorders, next-generation sequencing has led to a substantial prog …
The majority of these disorders, particularly in cases that present with a cutaneous patterning, may be explained in the context of genetic …
Mosaicism and clinical genetics.
Spinner NB, Conlin LK. Spinner NB, et al. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):397-405. doi: 10.1002/ajmg.c.31421. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25424979 Review.
With the introduction of increasingly sensitive technologies for mutation detection such as chromosomal microarrays and next-generation sequencing, the importance of mosaicism for human disease is being more fully appreciated. Mosaicism can occur for any type of mut …
With the introduction of increasingly sensitive technologies for mutation detection such as chromosomal microarrays and next-generation sequ …
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
Meng L, Kaufmann WE, Frye RE, Ong K, Kaminski JW, Velinov M, Berry-Kravis E. Meng L, et al. Am J Med Genet A. 2022 Mar;188(3):858-866. doi: 10.1002/ajmg.a.62594. Epub 2021 Dec 8. Am J Med Genet A. 2022. PMID: 35148024 Free PMC article.
Mosaicism in fragile X syndrome (FXS) refers to two different FMR1 allele variations: size mosaicism represents different numbers of CGG repeats between the two alleles, such that in addition to a full mutation allele there is an allele in the normal or premutation …
Mosaicism in fragile X syndrome (FXS) refers to two different FMR1 allele variations: size mosaicism represents different numb …
Mosaicism in Human Health and Disease.
Thorpe J, Osei-Owusu IA, Avigdor BE, Tupler R, Pevsner J. Thorpe J, et al. Annu Rev Genet. 2020 Nov 23;54:487-510. doi: 10.1146/annurev-genet-041720-093403. Epub 2020 Sep 11. Annu Rev Genet. 2020. PMID: 32916079 Free PMC article. Review.
Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be transmitted to offspring. ...
Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. Germline mosaicism is …
Pigmentary mosaicism.
[No authors listed] [No authors listed] Pediatr Dermatol. 2020 Jan;37(1):197-198. doi: 10.1111/pde.14106. Pediatr Dermatol. 2020. PMID: 31997452 No abstract available.
4,327 results