Results
|
41.
|
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa. [electronic resource] by
- Souied, E H
- Benlian, P
- Rozet, J M
- Gerber, S
- Lagarde, J P
- Coscas, G
- Soubrane, G
- Duffier, J L
- Munnich, A
- Kaplan, J
Producer: 19990510
In:
Vision research vol. 38
Availability: No items available.
|
|
42.
|
A third locus for dominant optic atrophy on chromosome 22q. [electronic resource] by
- Barbet, F
- Hakiki, S
- Orssaud, C
- Gerber, S
- Perrault, I
- Hanein, S
- Ducroq, D
- Dufier, J-L
- Munnich, A
- Kaplan, J
- Rozet, J-M
Producer: 20060303
In:
Journal of medical genetics vol. 42
Availability: No items available.
|
|
43.
|
Spectrum of retGC1 mutations in Leber's congenital amaurosis. [electronic resource] by
- Perrault, I
- Rozet, J M
- Gerber, S
- Ghazi, I
- Ducroq, D
- Souied, E
- Leowski, C
- Bonnemaison, M
- Dufier, J L
- Munnich, A
- Kaplan, J
Producer: 20001207
In:
European journal of human genetics : EJHG vol. 8
Availability: No items available.
|
|
44.
|
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus. [electronic resource] by
- Souied, E H
- Ducroq, D
- Rozet, J M
- Gerber, S
- Perrault, I
- Sterkers, M
- Benhamou, N
- Munnich, A
- Coscas, G
- Soubrane, G
- Kaplan, J
Producer: 19991007
In:
Investigative ophthalmology & visual science vol. 40
Availability: No items available.
|
|
45.
|
The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly. [electronic resource] by
- Rozet, J M
- Gerber, S
- Souied, E
- Ducroq, D
- Perrault, I
- Ghazi, I
- Soubrane, G
- Coscas, G
- Dufier, J L
- Munnich, A
- Kaplan, J
Producer: 20000208
In:
Molecular genetics and metabolism vol. 68
Availability: No items available.
|
|
46.
|
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis. [electronic resource] by
- Perrault, I
- Châtelin, S
- Nancy, V
- Rozet, J M
- Gerber, S
- Ghazi, I
- Souied, E
- Dufier, J L
- Munnich, A
- de Gunzburg, J
- Kaplan, J
Producer: 19980424
In:
Human genetics vol. 102
Availability: No items available.
|
|
47.
|
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study. [electronic resource] by
- Souied, E H
- Ducroq, D
- Gerber, S
- Ghazi, I
- Rozet, J M
- Perrault, I
- Munnich, A
- Dufier, J L
- Coscas, G
- Soubrane, G
- Kaplan, J
Producer: 19990907
In:
American journal of ophthalmology vol. 128
Availability: No items available.
|
|
48.
|
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. [electronic resource] by
- Kaplan, J
- Gerber, S
- Larget-Piet, D
- Rozet, J M
- Dollfus, H
- Dufier, J L
- Odent, S
- Postel-Vinay, A
- Janin, N
- Briard, M L
Producer: 19940204
In:
Nature genetics vol. 5
Availability: No items available.
|
|
49.
|
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia. [electronic resource] by
- Segues, B
- Rozet, J M
- Gilbert, B
- Saugier-Veber, P
- Rabier, D
- Saudubray, J M
- Carré, M
- Rouleau, F P
- Menget, A
- Bonardi, J M
Producer: 19951207
In:
Prenatal diagnosis vol. 15
Availability: No items available.
|
|
50.
|
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). [electronic resource] by
- Rozet, J M
- Gerber, S
- Perrault, I
- Camuzat, A
- Calvas, P
- Viegas-Pequignot, E
- Molina-Gomes, D
- Le Paslier, D
- Chumakov, I
- Munnich, A
- Kaplan, J
Producer: 19970211
In:
Genomics vol. 36
Availability: No items available.
|
|
51.
|
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. [electronic resource] by
- Perrault, I
- Rozet, J M
- Ghazi, I
- Leowski, C
- Bonnemaison, M
- Gerber, S
- Ducroq, D
- Cabot, A
- Souied, E
- Dufier, J L
- Munnich, A
- Kaplan, J
Producer: 20000405
In:
American journal of human genetics vol. 64
Availability: No items available.
|
|
52.
|
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. [electronic resource] by
- Gerber, S
- Perrault, I
- Hanein, S
- Barbet, F
- Ducroq, D
- Ghazi, I
- Martin-Coignard, D
- Leowski, C
- Homfray, T
- Dufier, J L
- Munnich, A
- Kaplan, J
- Rozet, J M
Producer: 20010920
In:
European journal of human genetics : EJHG vol. 9
Availability: No items available.
|
|
53.
|
Severe manifestations in carrier females in X linked retinitis pigmentosa. [electronic resource] by
- Souied, E
- Segues, B
- Ghazi, I
- Rozet, J M
- Chatelin, S
- Gerber, S
- Perrault, I
- Michel-Awad, A
- Briard, M L
- Plessis, G
- Dufier, J L
- Munnich, A
- Kaplan, J
Producer: 19971209
In:
Journal of medical genetics vol. 34
Availability: No items available.
|
|
54.
|
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. [electronic resource] by
- Papon, J F
- Perrault, I
- Coste, A
- Louis, B
- Gérard, X
- Hanein, S
- Fares-Taie, L
- Gerber, S
- Defoort-Dhellemmes, S
- Vojtek, A M
- Kaplan, J
- Rozet, J M
- Escudier, E
Producer: 20110302
In:
Journal of medical genetics vol. 47
Availability: No items available.
|
|
55.
|
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. [electronic resource] by
- Perrault, I
- Rozet, J M
- Calvas, P
- Gerber, S
- Camuzat, A
- Dollfus, H
- Châtelin, S
- Souied, E
- Ghazi, I
- Leowski, C
- Bonnemaison, M
- Le Paslier, D
- Frézal, J
- Dufier, J L
- Pittler, S
- Munnich, A
- Kaplan, J
Producer: 19970102
In:
Nature genetics vol. 14
Availability: No items available.
|
|
56.
|
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. [electronic resource] by
- Gerber, S
- Rozet, J M
- Takezawa, S I
- dos Santos, L C
- Lopes, L
- Gribouval, O
- Penet, C
- Perrault, I
- Ducroq, D
- Souied, E
- Jeanpierre, M
- Romana, S
- Frézal, J
- Ferraz, F
- Yu-Umesono, R
- Munnich, A
- Kaplan, J
Producer: 20001120
In:
Human genetics vol. 107
Availability: No items available.
|
|
57.
|
Implication of non-coding PAX6 mutations in aniridia. [electronic resource] by
- Plaisancié, Julie
- Tarilonte, M
- Ramos, P
- Jeanton-Scaramouche, C
- Gaston, V
- Dollfus, H
- Aguilera, D
- Kaplan, J
- Fares-Taie, L
- Blanco-Kelly, F
- Villaverde, C
- Francannet, C
- Goldenberg, A
- Arroyo, I
- Rozet, J M
- Ayuso, C
- Chassaing, N
- Calvas, P
- Corton, M
Producer: 20181029
In:
Human genetics vol. 137
Availability: No items available.
|