Fehr S - Search Results

1

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J. Fehr S, et al. Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8. Eur J Hum Genet. 2013. PMID: 22872100 Free PMC article.

2

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome.

Fehr S, Downs J, Bebbington A, Leonard H. Fehr S, et al. Am J Med Genet A. 2010 Oct;152A(10):2535-42. doi: 10.1002/ajmg.a.33640. Am J Med Genet A. 2010. PMID: 20815036 Free PMC article.

3

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J. Fehr S, et al. J Neurodev Disord. 2015;7(1):2. doi: 10.1186/1866-1955-7-2. Epub 2015 Jan 5. J Neurodev Disord. 2015. PMID: 25657822 Free PMC article.

4

Functional abilities in children and adults with the CDKL5 disorder.

Fehr S, Downs J, Ho G, de Klerk N, Forbes D, Christodoulou J, Williams S, Leonard H. Fehr S, et al. Am J Med Genet A. 2016 Nov;170(11):2860-2869. doi: 10.1002/ajmg.a.37851. Epub 2016 Aug 16. Am J Med Genet A. 2016. PMID: 27528505

5

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.

Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, Krishnaraj R, Christodoulou J, Downs J, Leonard H. Fehr S, et al. Neurology. 2016 Nov 22;87(21):2206-2213. doi: 10.1212/WNL.0000000000003352. Epub 2016 Oct 21. Neurology. 2016. PMID: 27770071

6

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J. Fehr S, et al. J Child Neurol. 2011 Aug;26(8):980-7. doi: 10.1177/0883073811401396. Epub 2011 May 4. J Child Neurol. 2011. PMID: 21543746

7

Trends in the diagnosis of Rett syndrome in Australia.

Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, DE Klerk N, Leonard H. Fehr S, et al. Pediatr Res. 2011 Sep;70(3):313-9. doi: 10.1203/PDR.0b013e3182242461. Pediatr Res. 2011. PMID: 21587099 Free PMC article.

8

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M, Leonard H, Ravine D, Wu X. Zhang J, et al. Among authors: fehr s. Clin Genet. 2012 Dec;82(6):526-33. doi: 10.1111/j.1399-0004.2011.01838.x. Epub 2012 Jan 20. Clin Genet. 2012. PMID: 22182064

9

Functional Assessment of Concussion Tool Application in a Pediatric Concussion Clinic.

Lumetta K, Halama S, Fehr S, Apps J, Thomas D. Lumetta K, et al. Among authors: fehr s. WMJ. 2023 Jul;122(3):191-195. WMJ. 2023. PMID: 37494650 Free article.

10

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.

Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Fehr S, Biskup S, Haack TB, Stöbe P, Heyd A, Harre J, Lesinski-Schiedat A, Büchner A, Lenarz T, Warnecke A, Müller M, Vona B, Dahlhoff E, Löwenheim H, Holderried M. Tropitzsch A, et al. Among authors: fehr s. Ear Hear. 2023 Nov-Dec 01;44(6):1464-1484. doi: 10.1097/AUD.0000000000001386. Epub 2023 Jul 13. Ear Hear. 2023. PMID: 37438890 Free PMC article.

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