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

Year Number of Results
1963 23
1964 39
1965 27
1966 38
1967 40
1968 57
1969 66
1970 65
1971 56
1972 88
1973 78
1974 58
1975 63
1976 49
1977 48
1978 58
1979 60
1980 44
1981 87
1982 65
1983 82
1984 70
1985 88
1986 114
1987 129
1988 153
1989 199
1990 231
1991 248
1992 311
1993 313
1994 301
1995 307
1996 309
1997 330
1998 329
1999 393
2000 414
2001 374
2002 310
2003 309
2004 333
2005 359
2006 374
2007 330
2008 310
2009 325
2010 374
2011 378
2012 364
2013 371
2014 406
2015 352
2016 390
2017 358
2018 360
2019 327
2020 342
2021 320
2022 276
2023 304
2024 117

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Search Results

12,724 results

Results by year

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Page 1
Testicular cancer.
Cheng L, Albers P, Berney DM, Feldman DR, Daugaard G, Gilligan T, Looijenga LHJ. Cheng L, et al. Nat Rev Dis Primers. 2018 Oct 5;4(1):29. doi: 10.1038/s41572-018-0029-0. Nat Rev Dis Primers. 2018. PMID: 30291251 Review.
Imprinting disorders in humans: a review.
Butler MG. Butler MG. Curr Opin Pediatr. 2020 Dec;32(6):719-729. doi: 10.1097/MOP.0000000000000965. Curr Opin Pediatr. 2020. PMID: 33148967 Free PMC article. Review.
Many imprinted genes affect fetal growth and development accounting for several human disorders reviewed in this report. RECENT FINDINGS: Disorders include Prader-Willi and Angelman syndromes, the first examples of imprinting errors in humans, chromosome 15q1 …
Many imprinted genes affect fetal growth and development accounting for several human disorders reviewed in this report. RECENT FINDI …
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.
Cells with chromosomal copy number deviations or chromosome structural rearrangements can compromise the viability of embryos; much of the naturally low human fecundity as well as low success rates of ART can be ascribed to these cytogenetic defects. Chromosomal …
Cells with chromosomal copy number deviations or chromosome structural rearrangements can compromise the viability of embryos; …
Sex chromosome aneuploidies.
Skuse D, Printzlau F, Wolstencroft J. Skuse D, et al. Handb Clin Neurol. 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. Handb Clin Neurol. 2018. PMID: 29325624 Review.
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. ...The loss or gain of genetic material can affect all daughter cells or it may be partial, leading to tis …
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gai …
Prenatal diagnosis by chromosomal microarray analysis.
Levy B, Wapner R. Levy B, et al. Fertil Steril. 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. Fertil Steril. 2018. PMID: 29447663 Free PMC article. Review.
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances …
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide …
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. Tartaglia N, et al. Acta Paediatr. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Epub 2011 Apr 8. Acta Paediatr. 2011. PMID: 21342258 Free PMC article. Review.
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. ...While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common an …
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. ...While the spectrum of cognitive abiliti …
Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review.
Bedei I, Wolter A, Weber A, Signore F, Axt-Fliedner R. Bedei I, et al. Genes (Basel). 2021 Mar 29;12(4):501. doi: 10.3390/genes12040501. Genes (Basel). 2021. PMID: 33805390 Free PMC article. Review.
Concomitant with the rise in technology, the possibility of screening for other genetic conditions by analysis of cfDNA, such as sex chromosome anomalies (SCAs), rare autosomal anomalies (RATs) and microdeletions and duplications, is offered by different providers t …
Concomitant with the rise in technology, the possibility of screening for other genetic conditions by analysis of cfDNA, such as sex chro …
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Review.
Since there is limited evidence specific to PMS, intervention mostly follows general guidelines for treating individuals with developmental disorders. Significant evidence has been amassed to guide the management of comorbid neuropsychiatric conditions in PMS, albeit mainl …
Since there is limited evidence specific to PMS, intervention mostly follows general guidelines for treating individuals with developmental …
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. Sahajpal NS, et al. Genes (Basel). 2021 Mar 11;12(3):398. doi: 10.3390/genes12030398. Genes (Basel). 2021. PMID: 33799648 Free PMC article. Review.
Global medical associations (ACOG, ISUOG, ACMG) recommend diagnostic prenatal testing for the detection and prevention of genetic disorders. Historically, cytogenetic methods such as karyotype analysis, fluorescent in situ hybridization (FISH) and chromosomal microa …
Global medical associations (ACOG, ISUOG, ACMG) recommend diagnostic prenatal testing for the detection and prevention of genetic disorde …
12,724 results
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