Dies KA - Search Results

1

A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex.

Weisenfeld NI, Peters JM, Tsai PT, Prabhu SP, Dies KA, Sahin M, Warfield SK. Weisenfeld NI, et al. Among authors: dies ka. Pediatr Neurol. 2013 Feb;48(2):105-10. doi: 10.1016/j.pediatrneurol.2012.10.011. Pediatr Neurol. 2013. PMID: 23337002 Free PMC article.

2

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. Poduri A, et al. Among authors: dies ka. Brain Dev. 2010 Aug;32(7):550-5. doi: 10.1016/j.braindev.2009.08.005. Epub 2009 Sep 13. Brain Dev. 2010. PMID: 19751967 Free PMC article.

3

Age- and gender-dependent obesity in individuals with 16p11.2 deletion.

Yu Y, Zhu H, Miller DT, Gusella JF, Platt OS, Wu BL, Shen Y; Children's Hospital Boston Genotype Phenotype Study Group. Yu Y, et al. J Genet Genomics. 2011 Sep 20;38(9):403-9. doi: 10.1016/j.jgg.2011.08.003. Epub 2011 Aug 17. J Genet Genomics. 2011. PMID: 21930099

4

Micro-duplications of 1q32.1 associated with neurodevelopmental delay.

Olson HE, Shen Y, Poduri A, Gorman MP, Dies KA, Robbins M, Hundley R, Wu B, Sahin M. Olson HE, et al. Among authors: dies ka. Eur J Med Genet. 2012 Feb;55(2):145-50. doi: 10.1016/j.ejmg.2011.12.008. Epub 2012 Jan 2. Eur J Med Genet. 2012. PMID: 22266072 Free PMC article.

5

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.

Dies KA, Bodell A, Hisama FM, Guo CY, Barry B, Chang BS, Barkovich AJ, Walsh CA. Dies KA, et al. J Child Neurol. 2013 Feb;28(2):198-203. doi: 10.1177/0883073812467850. Epub 2012 Dec 23. J Child Neurol. 2013. PMID: 23266945 Free PMC article.

6

Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex.

Spurling Jeste S, Wu JY, Senturk D, Varcin K, Ko J, McCarthy B, Shimizu C, Dies K, Vogel-Farley V, Sahin M, Nelson CA 3rd. Spurling Jeste S, et al. Neurology. 2014 Jul 8;83(2):160-8. doi: 10.1212/WNL.0000000000000568. Epub 2014 Jun 11. Neurology. 2014. PMID: 24920850 Free PMC article.

7

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Tyburczy ME, et al. Among authors: dies ka. PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637. eCollection 2015 Nov. PLoS Genet. 2015. PMID: 26540169 Free PMC article.

8

Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes.

Dies KA, Sahin M. Dies KA, et al. Handb Clin Neurol. 2015;132:3-8. doi: 10.1016/B978-0-444-62702-5.00001-9. Handb Clin Neurol. 2015. PMID: 26564068 Review.

9

Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers.

Crall C, Valle M, Kapur K, Dies KA, Liang MG, Sahin M, Huang JT. Crall C, et al. Among authors: dies ka. Pediatr Dermatol. 2016 Sep;33(5):518-25. doi: 10.1111/pde.12933. Epub 2016 Jul 19. Pediatr Dermatol. 2016. PMID: 27436143

10

Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

Srivastava S, Gubbels CS, Dies K, Fulton A, Yu T, Sahin M. Srivastava S, et al. J Child Neurol. 2017 Aug;32(9):840-845. doi: 10.1177/0883073817711527. Epub 2017 May 25. J Child Neurol. 2017. PMID: 28545339 Free PMC article.

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