Schorderet DF - Search Results

1

Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.

von Alpen D, Tran HV, Guex N, Venturini G, Munier FL, Schorderet DF, Haider NB, Escher P. von Alpen D, et al. Among authors: schorderet df. Hum Mutat. 2015 Jun;36(6):599-610. doi: 10.1002/humu.22775. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25703721 Free PMC article.

2

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Escher P, Gouras P, Roduit R, Tiab L, Bolay S, Delarive T, Chen S, Tsai CC, Hayashi M, Zernant J, Merriam JE, Mermod N, Allikmets R, Munier FL, Schorderet DF. Escher P, et al. Among authors: schorderet df. Hum Mutat. 2009 Mar;30(3):342-51. doi: 10.1002/humu.20858. Hum Mutat. 2009. PMID: 19006237 Free PMC article.

3

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).

Schorderet DF, Escher P. Schorderet DF, et al. Hum Mutat. 2009 Nov;30(11):1475-85. doi: 10.1002/humu.21096. Hum Mutat. 2009. PMID: 19718767 Review.

4

Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.

Roduit R, Escher P, Schorderet DF. Roduit R, et al. Among authors: schorderet df. PLoS One. 2009 Oct 12;4(10):e7379. doi: 10.1371/journal.pone.0007379. PLoS One. 2009. PMID: 19823680 Free PMC article.

5

Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa.

Escher P, Tran HV, Vaclavik V, Borruat FX, Schorderet DF, Munier FL. Escher P, et al. Among authors: schorderet df. Invest Ophthalmol Vis Sci. 2012 Jul 13;53(8):4754-64. doi: 10.1167/iovs.11-8693. Invest Ophthalmol Vis Sci. 2012. PMID: 22661467 Free article.

6

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Mégarbané A, Schorderet DF. Polok B, et al. Among authors: schorderet df. Am J Hum Genet. 2009 Feb;84(2):259-65. doi: 10.1016/j.ajhg.2009.01.006. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200527 Free PMC article.

7

Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

Abouzeid H, Schorderet DF, Balmer A, Munier FL. Abouzeid H, et al. Among authors: schorderet df. Mol Vis. 2009;15:771-7. Epub 2009 Apr 17. Mol Vis. 2009. PMID: 19390654 Free PMC article.

8

Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice.

Escher P, Schorderet DF, Cottet S. Escher P, et al. Among authors: schorderet df. Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5933-40. doi: 10.1167/iovs.10-6978. Invest Ophthalmol Vis Sci. 2011. PMID: 21715356 Free article.

9

Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

Abouzeid H, Favez T, Schmid A, Agosti C, Youssef M, Marzouk I, El Shakankiry N, Bayoumi N, Munier FL, Schorderet DF. Abouzeid H, et al. Among authors: schorderet df. Hum Mutat. 2014 Aug;35(8):949-53. doi: 10.1002/humu.22580. Epub 2014 Jun 3. Hum Mutat. 2014. PMID: 24777706

10

CRX-linked macular dystrophy with intrafamilial variable expressivity.

Romdhane K, Vaclavik V, Schorderet DF, Munier FL, Viet Tran H. Romdhane K, et al. Among authors: schorderet df. Ophthalmic Genet. 2018 Oct;39(5):637-641. doi: 10.1080/13816810.2018.1502789. Epub 2018 Aug 1. Ophthalmic Genet. 2018. PMID: 30067412

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