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60 results

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Page 1
The ring 14 syndrome.
Zollino M, Ponzi E, Gobbi G, Neri G. Zollino M, et al. Eur J Med Genet. 2012 May;55(5):374-80. doi: 10.1016/j.ejmg.2012.03.009. Epub 2012 Apr 14. Eur J Med Genet. 2012. PMID: 22564756 Review.
In our own sample of patients the ring was complete, with no apparent loss of chromosome material, in 6/27 cases, while it showed a small terminal deletion, varying in size from 0.3 to 5 Mb, in the other 21. In two of these a cryptic 14q duplication of 2.5 and 9.7 Mb, resp …
In our own sample of patients the ring was complete, with no apparent loss of chromosome material, in 6/27 cases, while it showed a small te …
Ring chromosome 14 syndrome: what the dentist should know to manage children with r(14) effec-tively.
Ivanoff AE, Ivanoff CS. Ivanoff AE, et al. Folia Med (Plovdiv). 2023 Feb 28;65(1):20-29. doi: 10.3897/folmed.65.e71784. Folia Med (Plovdiv). 2023. PMID: 36855970
INTRODUCTION: Ring chromosome 14 syndrome, or r(14), is a rare genetic disorder characterized by distinctive facial features, intractable epilepsy, delayed development, intellectual disability, and autism spectrum disorder. ...
INTRODUCTION: Ring chromosome 14 syndrome, or r(14), is a rare genetic disorder characterized by distinctive facial fea …
Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma.
Vaisfeld A, Spartano S, Gobbi G, Vezzani A, Neri G. Vaisfeld A, et al. Epilepsia. 2021 Jan;62(1):25-40. doi: 10.1111/epi.16754. Epub 2020 Nov 17. Epilepsia. 2021. PMID: 33205446 Review.
These latter manifestations are not found in individuals who are carriers of comparable 14q deletions without formation of a ring (linear deletions). To find an explanation for this apparent discrepancy and gain insight into the mechanisms leading to seizures, we re …
These latter manifestations are not found in individuals who are carriers of comparable 14q deletions without formation of a ring (li …
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M. Rinaldi B, et al. Orphanet J Rare Dis. 2017 Apr 11;12(1):69. doi: 10.1186/s13023-017-0606-4. Orphanet J Rare Dis. 2017. PMID: 28399932 Free PMC article. Review.
BACKGROUND: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. RESULTS: The aim of this work is to provide recom …
BACKGROUND: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy …
Position effect modifying gene expression in a patient with ring chromosome 14.
Guilherme RS, Moysés-Oliveira M, Dantas AG, Meloni VA, Colovati ME, Kulikowski LD, Melaragno MI. Guilherme RS, et al. J Appl Genet. 2016 May;57(2):183-7. doi: 10.1007/s13353-015-0311-8. Epub 2015 Aug 28. J Appl Genet. 2016. PMID: 26315457
However, phenotypic alterations can also be found in the presence of complete ring chromosomes, in which the breakage and rejoining in terminal regions of both chromosome arms result in no gene loss. Here, we present a patient with a ring chromosome 14 …
However, phenotypic alterations can also be found in the presence of complete ring chromosomes, in which the breakage and rejoining in termi …
A Case of Autism with Ring Chromosome 14.
Tajeran M, Baghbani F, Hassanzadeh-Nazarabadi M. Tajeran M, et al. Iran J Public Health. 2013 Nov;42(11):1316-20. Iran J Public Health. 2013. PMID: 26171345 Free PMC article.
Epilepsy in ring 14 chromosome syndrome.
Specchio N, Trivisano M, Serino D, Cappelletti S, Carotenuto A, Claps D, Marras CE, Fusco L, Elia M, Vigevano F. Specchio N, et al. Epilepsy Behav. 2012 Dec;25(4):585-92. doi: 10.1016/j.yebeh.2012.09.032. Epub 2012 Nov 14. Epilepsy Behav. 2012. PMID: 23159383 Review.
Ring chromosome 14 [r(14)] is a rare disorder. The aim of this study was to describe two new cases of r(14) drug-resistant epilepsy, and, through an extensive review of literature, highlight those epileptological features which are more commonly found and whi …
Ring chromosome 14 [r(14)] is a rare disorder. The aim of this study was to describe two new cases of r(14) drug-resist …
Multimodal imaging of ring 14 syndrome associated maculopathy.
Vasconcelos HM Jr, Vargas ME, Pennesi ME. Vasconcelos HM Jr, et al. Ophthalmic Genet. 2019 Dec;40(6):541-544. doi: 10.1080/13816810.2019.1688839. Epub 2019 Nov 22. Ophthalmic Genet. 2019. PMID: 31755799
Classically findings include distinct facial characteristics, refractory epilepsy, global development delay, muscular hypotonia and ocular abnormalities. Here we report a retinal multimodal imaging analyses of a ring chromosome 14 syndrome patient with associ …
Classically findings include distinct facial characteristics, refractory epilepsy, global development delay, muscular hypotonia and ocular a …
Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14.
Sánchez J, García-Díaz L, Chinchón D, Antiñolo G. Sánchez J, et al. Case Rep Genet. 2012;2012:794075. doi: 10.1155/2012/794075. Epub 2012 Nov 5. Case Rep Genet. 2012. PMID: 23198189 Free PMC article.
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that in …
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring …
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.
Salter CG, Baralle D, Collinson MN, Self JE. Salter CG, et al. Am J Med Genet A. 2016 Apr;170A(4):1017-22. doi: 10.1002/ajmg.a.37436. Epub 2016 Jan 15. Am J Med Genet A. 2016. PMID: 26773965 Review.
Those with ring formation and linear deletions are compared and the possibility of ring formation affecting the proximal 14q region is discussed. ...This report therefore advocates for a thorough ophthalmological exam in children with ring 14 or 14q terminal deletion …
Those with ring formation and linear deletions are compared and the possibility of ring formation affecting the proximal 14q region i …
60 results