Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1975 1
1976 1
1979 3
1981 1
1982 2
1983 2
1984 3
1985 6
1986 3
1988 1
1989 1
1992 2
1993 1
1995 3
1996 2
1997 3
1998 1
1999 1
2000 2
2001 1
2004 1
2005 1
2007 1
2008 1
2010 2
2011 2
2013 1
2014 4
2015 1
2016 1
2017 2
2018 4
2019 2
2024 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

59 results

Results by year

Filters applied: . Clear all
Page 1
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT. Nabais Sá MJ, et al. Among authors: berg jn. Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29. Genet Med. 2019. PMID: 30923367 Free article.
Germline FH mutations presenting with pheochromocytoma.
Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E, Morrison PJ, Frezza C, Maher ER. Clark GR, et al. Among authors: berg jn. J Clin Endocrinol Metab. 2014 Oct;99(10):E2046-50. doi: 10.1210/jc.2014-1659. Epub 2014 Jul 8. J Clin Endocrinol Metab. 2014. PMID: 25004247
Genome-wide association study of sporadic brain arteriovenous malformations.
Weinsheimer S, Bendjilali N, Nelson J, Guo DE, Zaroff JG, Sidney S, McCulloch CE, Al-Shahi Salman R, Berg JN, Koeleman BP, Simon M, Bostroem A, Fontanella M, Sturiale CL, Pola R, Puca A, Lawton MT, Young WL, Pawlikowska L, Klijn CJ, Kim H; GEN-AVM Consortium. Weinsheimer S, et al. Among authors: berg jn. J Neurol Neurosurg Psychiatry. 2016 Sep;87(9):916-23. doi: 10.1136/jnnp-2015-312272. Epub 2016 Jan 27. J Neurol Neurosurg Psychiatry. 2016. PMID: 26818729 Free PMC article.
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S. Balasubramanian M, et al. Among authors: berg jn. J Med Genet. 2017 Aug;54(8):537-543. doi: 10.1136/jmedgenet-2016-104360. Epub 2017 Jan 18. J Med Genet. 2017. PMID: 28100473 Free article. Review.
A family with hereditary port wine stain.
Berg JN, Quaba AA, Georgantopoulou A, Porteous ME. Berg JN, et al. J Med Genet. 2000 Aug;37(8):E12. doi: 10.1136/jmg.37.8.e12. J Med Genet. 2000. PMID: 10922392 Free PMC article. No abstract available.
MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer.
Rose AM, Krishan A, Chakarova CF, Moya L, Chambers SK, Hollands M, Illingworth JC, Williams SMG, McCabe HE, Shah AZ, Palmer CNA, Chakravarti A, Berg JN, Batra J, Bhattacharya SS. Rose AM, et al. Among authors: berg jn. Ann Oncol. 2018 May 1;29(5):1292-1303. doi: 10.1093/annonc/mdy082. Ann Oncol. 2018. PMID: 29509840 Free article.
59 results