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 NCBI Filters

Results by year

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

Year Number of Results
1946 1
1949 1
1958 2
1959 1
1962 2
1963 4
1965 1
1967 16
1968 27
1969 27
1970 21
1971 34
1972 42
1973 40
1974 69
1975 77
1976 63
1977 59
1978 61
1979 70
1980 49
1981 67
1982 66
1983 56
1984 66
1985 78
1986 70
1987 77
1988 107
1989 94
1990 115
1991 114
1992 126
1993 104
1994 128
1995 124
1996 122
1997 140
1998 139
1999 136
2000 151
2001 140
2002 121
2003 125
2004 118
2005 108
2006 146
2007 119
2008 124
2009 94
2010 103
2011 99
2012 84
2013 77
2014 78
2015 60
2016 71
2017 57
2018 68
2019 53
2020 46
2021 38
2022 4
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

4,510 results

Results by year

Filters applied: . Clear all
Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Autosomal-dominant cerebellar ataxias.
Mundwiler A, Shakkottai VG. Mundwiler A, et al. Handb Clin Neurol. 2018;147:173-185. doi: 10.1016/B978-0-444-63233-3.00012-9. Handb Clin Neurol. 2018. PMID: 29325610 Review.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
Autosomal Dominant Osteopetrosis.
Meira T, Soares-Fernandes JP. Meira T, et al. N Engl J Med. 2022 Sep 29;387(13):e27. doi: 10.1056/NEJMicm2202055. Epub 2022 Sep 24. N Engl J Med. 2022. PMID: 36155625 No abstract available.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Auer-Grumbach M, et al. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. Am J Hum Genet. 2016. PMID: 27588448 Free PMC article.
Mechanisms of Mendelian dominance.
Veitia RA, Caburet S, Birchler JA. Veitia RA, et al. Clin Genet. 2018 Mar;93(3):419-428. doi: 10.1111/cge.13107. Epub 2017 Oct 26. Clin Genet. 2018. PMID: 28755412 Review.
Inheritance in MGUS and MM.
Pfreundschuh M. Pfreundschuh M. Oncotarget. 2015 Oct 20;6(32):32287-8. doi: 10.18632/oncotarget.5960. Oncotarget. 2015. PMID: 26436702 Free PMC article. No abstract available.
Hereditary ataxias: overview.
Jayadev S, Bird TD. Jayadev S, et al. Genet Med. 2013 Sep;15(9):673-83. doi: 10.1038/gim.2013.28. Epub 2013 Mar 28. Genet Med. 2013. PMID: 23538602 Free article. Review.
4,510 results