Dies K - Search Results

1

Clinical and genetic characterization of AP4B1-associated SPG47.

Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT; CureSPG47. Ebrahimi-Fakhari D, et al. Among authors: dies k. Am J Med Genet A. 2018 Feb;176(2):311-318. doi: 10.1002/ajmg.a.38561. Epub 2017 Nov 28. Am J Med Genet A. 2018. PMID: 29193663

2

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

3

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.

4

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.

5

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. Among authors: dies k. Neurology. 2014 Jul 8;83(2):160-8. doi: 10.1212/WNL.0000000000000568. Epub 2014 Jun 11. Neurology. 2014. PMID: 24920850 Free PMC article.

6

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. 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.

7

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.

8

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

9

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. Among authors: dies k. 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.

10

Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex.

Srivastava S, Prohl AK, Scherrer B, Kapur K, Krueger DA, Warfield SK, Sahin M; TACERN Study Group. Srivastava S, et al. Neurology. 2018 Apr 24;90(17):e1493-e1500. doi: 10.1212/WNL.0000000000005352. Epub 2018 Mar 23. Neurology. 2018. PMID: 29572283 Free PMC article.

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