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
1990 1
1996 2
1997 1
1998 1
2002 2
2003 3
2004 8
2005 4
2006 3
2007 4
2008 3
2009 1
2014 1
2015 2
2019 2
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

36 results

Results by year

Filters applied: . Clear all
Page 1
A cross-disorder dosage sensitivity map of the human genome.
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium; Estonian Biobank Research Team; Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. Collins RL, et al. Among authors: matyakhina l. Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1. Cell. 2022. PMID: 35917817 Free PMC article.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: matyakhina l. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Protein kinase A and chromosomal stability.
Matyakhina L, Lenherr SM, Stratakis CA. Matyakhina L, et al. Ann N Y Acad Sci. 2002 Jun;968:148-57. doi: 10.1111/j.1749-6632.2002.tb04333.x. Ann N Y Acad Sci. 2002. PMID: 12119274 Review.
A mouse model for Carney complex.
Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos S, Robinson-White A, Weinberg F, Meoli E, Bornstein SR, Stratakis CA. Griffin KJ, et al. Among authors: matyakhina l. Endocr Res. 2004 Nov;30(4):903-11. doi: 10.1081/erc-200044145. Endocr Res. 2004. PMID: 15666843
The mink X chromosome: organization and inactivation.
Serov OL, Zhdanova NS, Pack SD, Lavrentieva MV, Shilov AG, Rivkin MI, Matyakhina LD, Dráber P, Kerkis AY, Rogozin IB, et al. Serov OL, et al. Among authors: matyakhina ld. Prog Clin Biol Res. 1990;344:589-618. Prog Clin Biol Res. 1990. PMID: 2203057 Review. No abstract available.
The Common Shrew Gene Map.
Serov OL, Matyakhina LD, Borodin PM, Searle JB. Serov OL, et al. Among authors: matyakhina ld. ILAR J. 1998;39(2-3):195-202. doi: 10.1093/ilar.39.2-3.195. ILAR J. 1998. PMID: 11528079 No abstract available.
Large deletions of the PRKAR1A gene in Carney complex.
Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA. Horvath A, et al. Among authors: matyakhina l. Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155. Clin Cancer Res. 2008. PMID: 18223213
36 results