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Results by year

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

Year Number of Results
1963 23
1964 39
1965 28
1966 38
1967 40
1968 57
1969 66
1970 65
1971 56
1972 88
1973 78
1974 58
1975 64
1976 50
1977 48
1978 58
1979 60
1980 46
1981 87
1982 66
1983 81
1984 71
1985 89
1986 113
1987 129
1988 152
1989 199
1990 229
1991 247
1992 310
1993 315
1994 302
1995 311
1996 307
1997 331
1998 333
1999 397
2000 414
2001 376
2002 311
2003 315
2004 342
2005 364
2006 382
2007 335
2008 316
2009 331
2010 381
2011 383
2012 370
2013 378
2014 418
2015 362
2016 403
2017 368
2018 370
2019 333
2020 354
2021 324
2022 219
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Article type
Publication date

Search Results

12,485 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.
Both genetic and environmental factors contribute to the development of testicular cancer, for which cryptorchidism is the most common risk factor. Progress has been made in our understanding of the disease since the initial description of carcinoma in situ of the testis i …
Both genetic and environmental factors contribute to the development of testicular cancer, for which cryptorchidism is the most common risk …
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; …
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 …
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
An Update on Common Chromosome Microdeletion and Microduplication Syndromes.
Goldenberg P. Goldenberg P. Pediatr Ann. 2018 May 1;47(5):e198-e203. doi: 10.3928/19382359-20180419-01. Pediatr Ann. 2018. PMID: 29750287 Review.
This review summarizes common microdeletion and microduplication syndromes and highlights important updates in patient-care needs for people with these conditions (22q11.2, 7q11.23, 17p11.2, and 16p11.2). These conditions are in chromosomal "hotspots" and have an estimated …
This review summarizes common microdeletion and microduplication syndromes and highlights important updates in patient-care needs for people …
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 …
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 often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes ar …
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelt …
Pallister-Killian syndrome.
Izumi K, Krantz ID. Izumi K, et al. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):406-13. doi: 10.1002/ajmg.c.31423. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25425112 Review.
Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, congenital diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy. PKS is caused by extra copies of chromosome
Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, …
Screening for fetal aneuploidy.
Rink BD, Norton ME. Rink BD, et al. Semin Perinatol. 2016 Feb;40(1):35-43. doi: 10.1053/j.semperi.2015.11.006. Epub 2015 Dec 25. Semin Perinatol. 2016. PMID: 26725144 Review.
Screening is currently recommended in pregnancy for a number of genetic disorders, chromosomal aneuploidy, and structural birth defects in the fetus regardless of maternal age or family history. ...Rapid advancements of genetic technologies have made it possible to …
Screening is currently recommended in pregnancy for a number of genetic disorders, chromosomal aneuploidy, and structural birt …
The Neurological Manifestations of Phelan-McDermid Syndrome.
Frank Y. Frank Y. Pediatr Neurol. 2021 Sep;122:59-64. doi: 10.1016/j.pediatrneurol.2021.06.002. Epub 2021 Jun 16. Pediatr Neurol. 2021. PMID: 34325981 Review.
Phelan-McDermid syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.3. PMS is characterized by neurobehavioral symptoms and signs including intellectual disability, speech and language impairment, autism spectrum disord …
Phelan-McDermid syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.3. PMS is c …
12,485 results
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