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
2008 1
2014 1
2017 1
2020 4
2021 2
2022 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Inherited intragenic PBX1 deletion: Expanding the phenotype.
Fitzgerald KK, Powell-Hamilton N, Shillingford AJ, Robinson B, Gripp KW. Fitzgerald KK, et al. Am J Med Genet A. 2021 Jan;185(1):234-237. doi: 10.1002/ajmg.a.61932. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098248
Molecular characterization of the calcium release channel deficiency syndrome.
Tester DJ, Kim CSJ, Hamrick SK, Ye D, O'Hare BJ, Bombei HM, Fitzgerald KK, Haglund-Turnquist CM, Atkins DL, Nunez LAO, Law I, Temple J, Ackerman MJ. Tester DJ, et al. Among authors: fitzgerald kk. JCI Insight. 2020 Aug 6;5(15):e135952. doi: 10.1172/jci.insight.135952. JCI Insight. 2020. PMID: 32663189 Free PMC article.
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ. Tester DJ, et al. Among authors: fitzgerald kk. JAMA Cardiol. 2020 Mar 1;5(3):13-18. doi: 10.1001/jamacardio.2019.5400. JAMA Cardiol. 2020. PMID: 31913406 Free PMC article.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. Marshall CR, et al. Among authors: fitzgerald kk. Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18565486 Free PMC article.