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
2002 1
2011 1
2012 1
2013 2
2015 3
2016 1
2017 2
2018 2
2019 5
2020 3
2021 2
2022 2
2023 6
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

28 results

Results by year

Filters applied: . Clear all
Page 1
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Khazaei S, Chen CCL, Andrade AF, Kabir N, Azarafshar P, Morcos SM, França JA, Lopes M, Lund PJ, Danieau G, Worme S, Adnani L, Nzirorera N, Chen X, Yogarajah G, Russo C, Zeinieh M, Wong CJ, Bryant L, Hébert S, Tong B, Sihota TS, Faury D, Puligandla E, Jawhar W, Sandy V, Cowan M, Nakada EM, Jerome-Majewska LA, Ellezam B, Gomes CC, Denecke J, Lessel D, McDonald MT, Pizoli CE, Taylor K, Cocanougher BT, Bhoj EJ, Gingras AC, Garcia BA, Lu C, Campos EI, Kleinman CL, Garzia L, Jabado N. Khazaei S, et al. Among authors: pizoli ce. Cell. 2023 Mar 16;186(6):1162-1178.e20. doi: 10.1016/j.cell.2023.02.023. Cell. 2023. PMID: 36931244 Free PMC article.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I, Zampo… See abstract for full author list ➔ Helbig KL, et al. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
PURA Syndrome and Myotonia.
Trau SP, Pizoli CE. Trau SP, et al. Among authors: pizoli ce. Pediatr Neurol. 2020 Mar;104:62-63. doi: 10.1016/j.pediatrneurol.2019.09.008. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31911028 No abstract available.
Hypersomnolence in a 17-year-old Boy.
Cannon L, Van Mater H, Pizoli C. Cannon L, et al. Among authors: pizoli c. Pediatr Rev. 2021 Jan;42(Suppl 1):S82-S84. doi: 10.1542/pir.2019-0229. Pediatr Rev. 2021. PMID: 33386370 No abstract available.
Longitudinal Choroidal Development in Preterm Infants.
Michalak SM, Mangalesh S, Chen Y, Shen LL, Tai V, Winter K, Sarin N, Ying GS, Toth CA, Vajzovic L; BabySTEPS Group. Michalak SM, et al. Ophthalmol Sci. 2023 Jul 4;4(1):100359. doi: 10.1016/j.xops.2023.100359. eCollection 2024 Jan-Feb. Ophthalmol Sci. 2023. PMID: 37877004 Free PMC article.
Epilepsy in neurofibromatosis type 1.
Pecoraro A, Arehart E, Gallentine W, Radtke R, Smith E, Pizoli C, Kansagra S, Abdelnour E, McLendon R, Mikati MA. Pecoraro A, et al. Among authors: pizoli c. Epilepsy Behav. 2017 Aug;73:137-141. doi: 10.1016/j.yebeh.2017.05.011. Epub 2017 Jul 18. Epilepsy Behav. 2017. PMID: 28633092
Gabapentin Use in the Neonatal Intensive Care Unit.
Edwards L, DeMeo S, Hornik CD, Cotten CM, Smith PB, Pizoli C, Hauer JM, Bidegain M. Edwards L, et al. Among authors: pizoli c. J Pediatr. 2016 Feb;169:310-2. doi: 10.1016/j.jpeds.2015.10.013. Epub 2015 Nov 11. J Pediatr. 2016. PMID: 26578075 Free PMC article.
A Genocentric Approach to Discovery of Mendelian Disorders.
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics; Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. Hansen AW, et al. Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668702 Free PMC article.
28 results