Dufier JL - Search Results

1

Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype.

de Saint-Basile G, Bohler MC, Fischer A, Cartron J, Dufier JL, Griscelli C, Orkin SH. de Saint-Basile G, et al. Among authors: dufier jl. Hum Genet. 1988 Sep;80(1):85-9. doi: 10.1007/BF00451463. Hum Genet. 1988. PMID: 3417309

2

Clinical and genetic heterogeneity in retinitis pigmentosa.

Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL. Kaplan J, et al. Among authors: dufier jl. Hum Genet. 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. Hum Genet. 1990. PMID: 2227956

3

Severe manifestations in carrier females in X linked retinitis pigmentosa.

Souied E, Segues B, Ghazi I, Rozet JM, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard ML, Plessis G, Dufier JL, Munnich A, Kaplan J. Souied E, et al. Among authors: dufier jl. J Med Genet. 1997 Oct;34(10):793-7. doi: 10.1136/jmg.34.10.793. J Med Genet. 1997. PMID: 9350809 Free PMC article.

4

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Souied E, Gerber S, Rozet JM, Bonneau D, Dufier JL, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A, et al. Souied E, et al. Among authors: dufier jl. Hum Mol Genet. 1994 Aug;3(8):1433-4. doi: 10.1093/hmg/3.8.1433. Hum Mol Genet. 1994. PMID: 7987331 No abstract available.

5

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Rozet JM, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, Cabot A, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. Among authors: dufier jl. J Med Genet. 1999 Jun;36(6):447-51. J Med Genet. 1999. PMID: 10874631 Free PMC article.

6

Autosomal inheritance of "senile" retinitis pigmentosa. A report of a family with consanguinity.

Bonneau D, Kaplan J, Girard G, Dufier JL. Bonneau D, et al. Among authors: dufier jl. Clin Genet. 1992 Oct;42(4):199-200. doi: 10.1111/j.1399-0004.1992.tb03237.x. Clin Genet. 1992. PMID: 1424244

7

[Optic neuropathy in Purtilo's syndrome].

Torossian T, Dufier JL, Manderieux N, Sitruk S, Blanche S, Fischer A, Griscelli C, Haye C. Torossian T, et al. Among authors: dufier jl. Bull Soc Ophtalmol Fr. 1989 Aug-Sep;89(8-9):927-9. Bull Soc Ophtalmol Fr. 1989. PMID: 2559817 French. No abstract available.

8

Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.

Kaplan J, Guasconi G, Dufier JL, Michel-Awad A, David A, Munnich A, Frezal J. Kaplan J, et al. Among authors: dufier jl. Ann Genet. 1990;33(3):152-4. Ann Genet. 1990. PMID: 2288459

9

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. Pelletier V, et al. Among authors: dufier jl. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. Hum Mutat. 2007. PMID: 16969763

10

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A. Salomon J, et al. Among authors: dufier jl. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340

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