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Page 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.
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. ...Epilepsy (54%) and gastroi …
BACKGROUND: De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder chara …
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.
PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 microdeletion syndrome and PURA syndrome. ...There was no significant difference between two groups in incidence of neonatal problems, developmental delay and common medical comorbidities. We obser …
PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 microdeletion syndrome and PURA syndrome. ...There was no …
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G. Zollino M, et al. Am J Med Genet. 2000 Sep 18;94(3):254-61. doi: 10.1002/1096-8628(20000918)94:3<254::aid-ajmg13>3.0.co;2-7. Am J Med Genet. 2000. PMID: 10995514
The precise definition of the cytogenetic defect permitted an analysis of the genotype-phenotype correlations in WHS, leading to the proposal of a set of minimal diagnostic criteria, which in turn may facilitate the selection of critical patients in the search for the gene(s) res …
The precise definition of the cytogenetic defect permitted an analysis of the genotype-phenotype correlations in WHS, leading to the proposa …
Clinical features and revised diagnostic criteria in Joubert syndrome.
Maria BL, Boltshauser E, Palmer SC, Tran TX. Maria BL, et al. J Child Neurol. 1999 Sep;14(9):583-90; discussion 590-1. doi: 10.1177/088307389901400906. J Child Neurol. 1999. PMID: 10488903
The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the prese …
The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developme …
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.
Mosallaei M, Ehtesham N, Beheshtian M, Khoshbakht S, Davarnia B, Kahrizi K, Najmabadi H. Mosallaei M, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1894. doi: 10.1002/mgg3.1894. Epub 2022 Feb 17. Mol Genet Genomic Med. 2022. PMID: 35174982 Free PMC article.
The major clinical manifestations in 203 previously reported cases along with our 20 patients with disease causing variants in eight GEF genes were as follow; speech disorder (85.2%), ID (81.6%), DD (81.1%), inability to walk (71.3%), facial dysmorphisms feat …
The major clinical manifestations in 203 previously reported cases along with our 20 patients with disease causing variants in eight GEF gen …