Similar articles for PMID: 29097605

Year	Number of Results
1993	1
2012	1
2013	4
2014	10
2015	8
2016	15
2017	18
2018	13
2019	20
2020	10
2021	13
2022	8
2023	4
2024	1

1

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.

2

Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.

Choi SA, Lee HS, Park TJ, Park S, Ko YJ, Kim SY, Lim BC, Kim KJ, Chae JH. Choi SA, et al. Brain Dev. 2021 Oct;43(9):912-918. doi: 10.1016/j.braindev.2021.05.009. Epub 2021 Jun 8. Brain Dev. 2021. PMID: 34116881

3

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study; Magee AC, Turnpenny PD, Baralle D. Hunt D, et al. J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23. J Med Genet. 2014. PMID: 25342064 Free PMC article.

4

Expanding the neurodevelopmental phenotype of PURA syndrome.

Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR. Lee BH, et al. Am J Med Genet A. 2018 Jan;176(1):56-67. doi: 10.1002/ajmg.a.38521. Epub 2017 Nov 17. Am J Med Genet A. 2018. PMID: 29150892 Free PMC article.

5

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.

Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N. Dai W, et al. Eur J Hum Genet. 2023 Jan;31(1):112-121. doi: 10.1038/s41431-022-01217-4. Epub 2022 Nov 14. Eur J Hum Genet. 2023. PMID: 36376392 Free PMC article.

6

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.

Cinquina V, Ciaccio C, Venturini M, Masson R, Ritelli M, Colombi M. Cinquina V, et al. Mol Genet Genomic Med. 2021 Jan;9(1):e1562. doi: 10.1002/mgg3.1562. Epub 2020 Dec 4. Mol Genet Genomic Med. 2021. PMID: 33275834 Free PMC article.

7

A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.

Ben Issa A, Ben Ayed I, Jallouli O, Souissi A, Bouchaalla W, Ben Said M, Mallouli S, Masmoudi S, Charfi Triki C, Hadj Kacem H, Kammoun F. Ben Issa A, et al. Int J Dev Neurosci. 2023 Jun;83(4):383-395. doi: 10.1002/jdn.10266. Epub 2023 May 19. Int J Dev Neurosci. 2023. PMID: 37204304 Review.

8

Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.

Mishra S, Girisha KM, Shukla A. Mishra S, et al. Clin Dysmorphol. 2021 Jan;30(1):1-5. doi: 10.1097/MCD.0000000000000360. Clin Dysmorphol. 2021. PMID: 33229923 Free PMC article.

9

Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome.

Solazzi R, Fiorini E, Parrini E, Guerrini R, Bernardina BD, Nardocci N, Cantalupo G. Solazzi R, et al. Epileptic Disord. 2021 Oct 1;23(5):745-748. doi: 10.1684/epd.2021.1328. Epileptic Disord. 2021. PMID: 34583915

10

A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.

Rodríguez-García ME, Cotrina-Vinagre FJ, Arranz-Canales E, Aragón AM, Hernández-Sánchez L, Rodríguez-Fornés F, Carnicero-Rodríguez P, Morales-Conejo M, Martín-Hernández E, Martínez-Azorín F. Rodríguez-García ME, et al. J Genet. 2020;99:7. J Genet. 2020. PMID: 32089526 Free article.

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