Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

MyNCBI Filters
Results by year

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

Year Number of Results
1954 1
1956 1
1957 6
1958 5
1959 5
1960 21
1961 38
1962 34
1965 18
1966 71
1967 79
1968 85
1969 103
1970 132
1971 127
1972 136
1973 133
1974 191
1975 130
1976 164
1977 138
1978 145
1979 142
1980 158
1981 138
1982 148
1983 183
1984 200
1985 205
1986 230
1987 217
1988 240
1989 200
1990 274
1991 318
1992 363
1993 395
1994 405
1995 406
1996 500
1997 480
1998 462
1999 567
2000 510
2001 497
2002 483
2003 521
2004 530
2005 661
2006 649
2007 669
2008 683
2009 718
2010 789
2011 865
2012 921
2013 905
2014 904
2015 861
2016 821
2017 782
2018 739
2019 332
2020 1
Text availability
Article attribute
Article type
Publication date

Search Results

20,372 results
Results by year
Filters applied: . Clear all
Page 1
Contiguous Gene Syndromes
Pereira E and Marion R. Pediatr Rev 2018 - Review. PMID 29292292
Association of four imprinting disorders and ART.
Hattori H, et al. Clin Epigenetics 2019. PMID 30732658 Free PMC article.
However, the causes and ART risk factors for these disorders are not well understood. RESULTS: A nationwide epidemiological study in Japan in 2015 in which 2777 pediatrics departments were contacted and a total of 931 patients with imprinting disorders including 117 BWS, 227 AS, 520 PWS, and 67 SRS patients, were recruited. ...In addition, we found that the ART patients with one of three imprinting disorders, PWS, AS, and SRS, displayed additional minor phenotypes and lack of the phenotypes. ...
However, the causes and ART risk factors for these disorders are not well understood. RESULTS: A nationwide epidemiological study in …
Commentary
Tan WH. Clin Chem 2015. PMID 25550476
Common genetic and epigenetic syndromes
Adams DJ and Clark DA. Pediatr Clin North Am 2015 - Review. PMID 25836705
Imprinted disorders and growth.
Giabicani É, et al. Ann Endocrinol (Paris) 2017. PMID 28478949
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders with opposite fetal growth disturbance. ...Epigenetic (abnormal methylation at the imprinting center regions) or genetic (mutations, duplications, uniparental disomy [UPD]) including defects of imprinted genes on chromosome 11 (BWS and SRS), 7 (SRS) and more recently 14 (SRS) have been identified in these two syndromes. ...
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders with opposite fetal growth disturban …
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome
Tartaglia N, et al. Acta Paediatr 2011 - Review. PMID 21342258 Free PMC article.
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 are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. ...
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelt …
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions
Bi W, et al. Am J Med Genet A 2016. PMID 27287194
Through chromosomal microarray analysis, we identified 156 patients with a deletion (n = 109) or duplication (n = 47) in 4p16.3 out of approximately 60,000 patients analyzed by Baylor Miraca Genetics Laboratories. Seventy-five of the postnatally detected deletions encompassed the entire critical region, 32 (43%) of which were associated with other chromosome rearrangements, including six patients (8%) that had a duplication adjacent to the terminal deletion. ...
Through chromosomal microarray analysis, we identified 156 patients with a deletion (n = 109) or duplication (n = 47) in 4p16.3 out of appro …
20,372 results
Jump to page
Feedback