Toelle SP - Search Results

1

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.

Rechsteiner D, Issler L, Koller S, Lang E, Bähr L, Feil S, Rüegger CM, Kottke R, Toelle SP, Zweifel N, Steindl K, Joset P, Zweier M, Suter AA, Gogoll L, Haas C, Berger W, Gerth-Kahlert C. Rechsteiner D, et al. Among authors: toelle sp. JAMA Ophthalmol. 2021 Jul 1;139(7):691-700. doi: 10.1001/jamaophthalmol.2021.0385. JAMA Ophthalmol. 2021. PMID: 34014271 Free PMC article.

2

[Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)].

Zweipfenning F, Toelle SP, Gerth-Kahlert C. Zweipfenning F, et al. Among authors: toelle sp. Klin Monbl Augenheilkd. 2019 Apr;236(4):462-468. doi: 10.1055/a-0804-1816. Epub 2019 Feb 14. Klin Monbl Augenheilkd. 2019. PMID: 30763959 German.

3

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K. Schröder S, et al. Among authors: toelle sp. Genet Med. 2021 Feb;23(2):341-351. doi: 10.1038/s41436-020-00979-w. Epub 2020 Oct 7. Genet Med. 2021. PMID: 33024317 Free PMC article.

4

Treatment of NF1-Associated Optic Pathway/Hypothalamic Gliomas in Patients With Diencephalic Syndrome.

Weiser A, Hengartner H, Kottke R, Grehten P, Toelle SP, Gerber NU, Grotzer MA, Guerreiro Stucklin AS. Weiser A, et al. Among authors: toelle sp. J Pediatr Hematol Oncol. 2023 May 1;45(4):e543-e546. doi: 10.1097/MPH.0000000000002569. Epub 2022 Oct 20. J Pediatr Hematol Oncol. 2023. PMID: 36730977 Free PMC article.

5

Association of lentiginous mosaicism and congenital cataract in a girl.

Toelle SP, Boltshauser E, Wirth MG, Itin P. Toelle SP, et al. Eur J Dermatol. 2006 Jul-Aug;16(4):360-2. Eur J Dermatol. 2006. PMID: 16935790

6

Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study.

Disse SC, Toelle SP, Schroeder S, Theiler M, Weibel L, Broser P, Langner C, Siegel D, Brockmann K, Schoenfelder I, Meyer S. Disse SC, et al. Among authors: toelle sp. Neuroepidemiology. 2020;54(5):383-391. doi: 10.1159/000508187. Epub 2020 Jul 1. Neuroepidemiology. 2020. PMID: 32610335

7

Long-term outcome in children with congenital unilateral facial nerve palsy.

Toelle SP, Boltshauser E. Toelle SP, et al. Neuropediatrics. 2001 Jun;32(3):130-5. doi: 10.1055/s-2001-16610. Neuropediatrics. 2001. PMID: 11521208

8

Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.

Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WC, Bast T, Kalmanchey R, Barsi P, Schneider JF, Capone Mori A, Boltshauser E. Toelle SP, et al. Neuropediatrics. 2002 Aug;33(4):209-14. doi: 10.1055/s-2002-34498. Neuropediatrics. 2002. PMID: 12368992 Review.

9

Severe neurological impairment in hereditary methaemoglobinaemia type 2.

Toelle SP, Boltshauser E, Mössner E, Zurbriggen K, Eber S. Toelle SP, et al. Eur J Pediatr. 2004 Apr;163(4-5):207-9. doi: 10.1007/s00431-004-1409-x. Epub 2004 Feb 18. Eur J Pediatr. 2004. PMID: 14986124

10

Cognitive outcome in children with rhombencephalosynapsis.

Poretti A, Alber FD, Bürki S, Toelle SP, Boltshauser E. Poretti A, et al. Among authors: toelle sp. Eur J Paediatr Neurol. 2009 Jan;13(1):28-33. doi: 10.1016/j.ejpn.2008.02.005. Epub 2008 Apr 14. Eur J Paediatr Neurol. 2009. PMID: 18407532

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