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

Year Number of Results
1972 3
1973 1
1974 1
1975 1
1978 1
1979 3
1981 1
1982 3
1983 1
1984 4
1985 2
1986 1
1987 4
1988 3
1989 4
1990 2
1991 6
1992 7
1993 4
1994 7
1995 2
1996 1
1997 3
1998 7
1999 5
2000 8
2001 7
2002 6
2003 7
2004 11
2005 7
2006 7
2007 7
2008 9
2009 9
2010 9
2011 8
2012 14
2013 14
2014 17
2015 15
2016 19
2017 25
2018 22
2019 36
2020 39
2021 41
2022 30
2023 43
2024 13

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451 results

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Proximity search should include two or more words. Proximity operator ignored :~0
Page 1
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype ( approximately 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitiv …
CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded k …
Preimplantation Genetic Testing: Where We Are Today.
Greco E, Litwicka K, Minasi MG, Cursio E, Greco PF, Barillari P. Greco E, et al. Int J Mol Sci. 2020 Jun 19;21(12):4381. doi: 10.3390/ijms21124381. Int J Mol Sci. 2020. PMID: 32575575 Free PMC article. Review.
Finally, genetic origin and clinical significance of embryo mosaicism are illustrated. CONCLUSIONS: The preimplantation genetic testing is a valid technique to evaluated embryo euploidy and mosaicism before transfer....
Finally, genetic origin and clinical significance of embryo mosaicism are illustrated. CONCLUSIONS: The preimplantation genetic testi …
Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements.
Viotti M. Viotti M. Genes (Basel). 2020 May 29;11(6):602. doi: 10.3390/genes11060602. Genes (Basel). 2020. PMID: 32485954 Free PMC article. Review.
Technical enhancements and increased resolution and sensitivity permit the identification of chromosomal mosaicism (embryos containing a mix of normal and abnormal cells), as well as the detection of sub-chromosomal abnormalities such as segmental deletions and duplication …
Technical enhancements and increased resolution and sensitivity permit the identification of chromosomal mosaicism (embryos containin …
Alagille syndrome: pathogenesis, diagnosis and management.
Turnpenny PD, Ellard S. Turnpenny PD, et al. Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934706 Free PMC article. Review.
It follows autosomal dominant inheritance, but reduced penetrance and variable expression are common in this disorder, and somatic/germline mosaicism may also be relatively frequent. This review discusses the clinical features of ALGS, including long-term complications, th …
It follows autosomal dominant inheritance, but reduced penetrance and variable expression are common in this disorder, and somatic/germline …
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Savige J, et al. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.
These techniques identify a further 5% of variants, and the remaining few changes include deep intronic splicing variants or cases of somatic mosaicism. Where no pathogenic variants are found, the basis for the clinical diagnosis should be reviewed. ...
These techniques identify a further 5% of variants, and the remaining few changes include deep intronic splicing variants or cases of somati …
The Clinical Spectrum of McCune-Albright Syndrome and Its Management.
Spencer T, Pan KS, Collins MT, Boyce AM. Spencer T, et al. Horm Res Paediatr. 2019;92(6):347-356. doi: 10.1159/000504802. Epub 2019 Dec 19. Horm Res Paediatr. 2019. PMID: 31865341 Free PMC article. Review.
A systematic approach to diagnosis and management is critically important to optimize outcomes for patients with FD/MAS. There are no medical therapies capable of altering the disease course in FD; however, screening and treatment for endocrinopathies can mitigate some ske …
A systematic approach to diagnosis and management is critically important to optimize outcomes for patients with FD/MAS. There are no medica …
Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?
Mardy AH, Norton ME. Mardy AH, et al. Prenat Diagn. 2021 Sep;41(10):1249-1254. doi: 10.1002/pd.6021. Epub 2021 Aug 25. Prenat Diagn. 2021. PMID: 34386984 Review.
OBJECTIVE: The positive predictive values of cell free DNA (cfDNA) and rates of confined placental mosaicism (CPM), imprinting and other factors vary by chromosome. METHODS: We sought to review the literature for each of these features for each chromosome and provide recom …
OBJECTIVE: The positive predictive values of cell free DNA (cfDNA) and rates of confined placental mosaicism (CPM), imprinting and ot …
PGDIS position statement on the transfer of mosaic embryos 2021.
Leigh D, Cram DS, Rechitsky S, Handyside A, Wells D, Munne S, Kahraman S, Grifo J, Katz-Jaffe M, Rubio C, Viotti M, Forman E, Xu K, Gordon T, Madjunkova S, Qiao J, Chen ZJ, Harton G, Gianaroli L, Simon C, Scott R, Simpson JL, Kuliev A. Leigh D, et al. Reprod Biomed Online. 2022 Jul;45(1):19-25. doi: 10.1016/j.rbmo.2022.03.013. Epub 2022 Mar 20. Reprod Biomed Online. 2022. PMID: 35523707 Review.
Newer technologies have revealed that some embryos may appear to have intermediate whole chromosome (or parts of a chromosome termed segmental) copy number results suggesting trophectoderm mosaicism. An embryo with a trophectoderm mosaic-range result may be the only option …
Newer technologies have revealed that some embryos may appear to have intermediate whole chromosome (or parts of a chromosome termed segment …
Non-Invasive Preimplantation Genetic Testing for Aneuploidy and the Mystery of Genetic Material: A Review Article.
Tomic M, Vrtacnik Bokal E, Stimpfel M. Tomic M, et al. Int J Mol Sci. 2022 Mar 25;23(7):3568. doi: 10.3390/ijms23073568. Int J Mol Sci. 2022. PMID: 35408927 Free PMC article. Review.
The searches comprised keywords such as 'preimplantation', 'cfDNA'; 'miRNA', 'PGT-A', 'niPGT-A', 'aneuploidy', 'mosaicism', 'blastocyst biopsy', 'blastocentesis', 'blastocoel fluid', 'NGS', 'FISH', and 'aCGH'. ...The concordance rate varies when compared to invasive PGT-A. …
The searches comprised keywords such as 'preimplantation', 'cfDNA'; 'miRNA', 'PGT-A', 'niPGT-A', 'aneuploidy', 'mosaicism', 'blastocy …
451 results