Munier FL - Search Results

1

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. Audo I, et al. Among authors: munier fl. Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896113 Free PMC article.

2

[Oncogenes and anti-oncogenes: the genetics of cancer].

Schorderet DF, Munier FL. Schorderet DF, et al. Among authors: munier fl. Praxis (Bern 1994). 1996 Aug 27;85(35):1019-22. Praxis (Bern 1994). 1996. PMID: 8848670 French.

3

Mutation hot spots in 5q31-linked corneal dystrophies.

Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF. Korvatska E, et al. Among authors: munier fl. Am J Hum Genet. 1998 Feb;62(2):320-4. doi: 10.1086/301720. Am J Hum Genet. 1998. PMID: 9463327 Free PMC article.

4

Gene localization for aculeiform cataract, on chromosome 2q33-35.

Héon E, Liu S, Billingsley G, Bernasconi O, Tsilfidis C, Schorderet DF, Munier FL. Héon E, et al. Among authors: munier fl. Am J Hum Genet. 1998 Sep;63(3):921-6. doi: 10.1086/302005. Am J Hum Genet. 1998. PMID: 9718335 Free PMC article. No abstract available.

5

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.

Millá E, Héon E, Grounauer PA, Piguet B, Ducrey N, Stone EM, Schorderet DF, Munier FL. Millá E, et al. Among authors: munier fl. Ophthalmic Genet. 1998 Sep;19(3):131-9. doi: 10.1076/opge.19.3.131.2183. Ophthalmic Genet. 1998. PMID: 9810568

6

Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis.

Munier FL, Thonney F, Girardet A, Balmer A, Claustre M, Pellestor F, Senn A, Pescia G, Schorderet DF. Munier FL, et al. Am J Hum Genet. 1998 Dec;63(6):1903-8. doi: 10.1086/302138. Am J Hum Genet. 1998. PMID: 9837842 Free PMC article. No abstract available.

7

The gamma-crystallins and human cataracts: a puzzle made clearer.

Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL. Héon E, et al. Among authors: munier fl. Am J Hum Genet. 1999 Nov;65(5):1261-7. doi: 10.1086/302619. Am J Hum Genet. 1999. PMID: 10521291 Free PMC article.

8

Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online.

Neuner-Jehle M, Munier F, Kobetz A, Sahly I, Uteza Y, Mermoud A, Schorderet DF, Dufier JL, Abitbol M. Neuner-Jehle M, et al. Hum Mutat. 1998;12(2):138. doi: 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D. Hum Mutat. 1998. PMID: 10694925

9

Haplotye analysis of Jaanese families with a superficial variant of granular corneal dystrohy: evidence for multiple origins of R124L mutation of keratoepithelin.

Korvatska E, Yamada M, Yamamoto S, Okada M, Munier FL, Schorderet DF, Mashima Y. Korvatska E, et al. Among authors: munier fl. Ophthalmic Genet. 2000 Mar;21(1):63-5. Ophthalmic Genet. 2000. PMID: 10896446 No abstract available.

10

[Diagnosis, treatment, and familial management of retinoblastoma].

Munier F, Balmer A, Schorderet DF. Munier F, et al. Rev Med Suisse Romande. 2000 May;120(5):443-7. Rev Med Suisse Romande. 2000. PMID: 10911750 French. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

306 results

Search Page