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Results: 1-19 |
Results: 19
AUTOSOMAL RECESSIVE RETINAL DYSTROPHY ASSOCIATED WITH 2 NOVEL MUTATIONS IN THE RPE65 GENE
Authors: MARLHENS F GRIFFOIN JM BAREIL C ARNAUD B CLAUSTRES M HAMEL CP
Citation: F. Marlhens et al., AUTOSOMAL RECESSIVE RETINAL DYSTROPHY ASSOCIATED WITH 2 NOVEL MUTATIONS IN THE RPE65 GENE, European journal of human genetics, 6(5), 1998, pp. 527-531
PROTEIN TRUNCATION TEST - A TOOL FOR THE DETECTION OF POINT MUTATIONSIN DNA
Authors: MAUGARD C TUFFERY S BEAUFRERE L BAREIL C CLAUSTRES M
Citation: C. Maugard et al., PROTEIN TRUNCATION TEST - A TOOL FOR THE DETECTION OF POINT MUTATIONSIN DNA, MS. Medecine sciences, 14(4), 1998, pp. 467-474
MUTATION ANALYSIS OF THE DYSTROPHIN GENE IN SOUTHERN FRENCH DMD OR BMD FAMILIES - FROM SOUTHERN BLOT TO PROTEIN TRUNCATION TEST
Authors: TUFFERY S CHAMBERT S BAREIL C SARDA P COUBES C ECHENNE B DEMAILLE J CLAUSTRES M
Citation: S. Tuffery et al., MUTATION ANALYSIS OF THE DYSTROPHIN GENE IN SOUTHERN FRENCH DMD OR BMD FAMILIES - FROM SOUTHERN BLOT TO PROTEIN TRUNCATION TEST, Human genetics, 102(3), 1998, pp. 334-342
GENETIC-ANALYSIS IN A FAMILY WITH X-LINKE D INCOMPLETE TYPE OF CONGENITAL STATIONARY NIGHTBLINDNESS (CSNBI)
Authors: SCHMITTBERNARD CF BAREIL C HAMEL CP BEAUFRERE L ARNAUD B CLAUSTRES M DEMEEUS A
Citation: Cf. Schmittbernard et al., GENETIC-ANALYSIS IN A FAMILY WITH X-LINKE D INCOMPLETE TYPE OF CONGENITAL STATIONARY NIGHTBLINDNESS (CSNBI), Journal francais d'ophtalmologie, 21(4), 1998, pp. 251-256
A COMPLEX ALLELE (1064DELTC AND IVS2+22INS7) IN THE PERIPHERIN RDS GENE IN RETINITIS-PIGMENTOSA WITH MACULAR DYSTROPHY/
Authors: BAREIL C HAMEL C ARNAUD B DEMAILLE J CLAUSTRES M
Citation: C. Bareil et al., A COMPLEX ALLELE (1064DELTC AND IVS2+22INS7) IN THE PERIPHERIN RDS GENE IN RETINITIS-PIGMENTOSA WITH MACULAR DYSTROPHY/, Ophthalmic genetics, 18(3), 1997, pp. 129-138
MUTATIONS IN RPE65 CAUSE LEBERS CONGENITAL AMAUROSIS
Authors: MARLHENS F BAREIL C GRIFFOIN JM ZRENNER E AMALRIC P ELIAOU C LIU SY HARRIS E REDMOND TM ARNAUD B CLAUSTRES M HAMEL CP
Citation: F. Marlhens et al., MUTATIONS IN RPE65 CAUSE LEBERS CONGENITAL AMAUROSIS, Nature genetics, 17(2), 1997, pp. 139-141
RAPID GENETIC DIAGNOSIS IN CARRIER FEMALES RELATED TO SUBJECTS WITH CHOROIDEREMIA
Authors: BEAUFRERE L TUFFERY S HAMEL C BAREIL C ARNAUD B DEMAILLE J CLAUSTRES M
Citation: L. Beaufrere et al., RAPID GENETIC DIAGNOSIS IN CARRIER FEMALES RELATED TO SUBJECTS WITH CHOROIDEREMIA, Journal francais d'ophtalmologie, 20(7), 1997, pp. 534-538
LINKAGE ANALYSIS IN A FAMILY WITH INCOMPLETE TYPE OF X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS (CSNB2)
Authors: SCHMITTBERNARD CF BAREIL C HAMEL C ARNAUD B CLAUSTRES M DEMEEUS A
Citation: Cf. Schmittbernard et al., LINKAGE ANALYSIS IN A FAMILY WITH INCOMPLETE TYPE OF X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS (CSNB2), Investigative ophthalmology & visual science, 38(4), 1997, pp. 3685-3685
THE PROTEIN TRUNCATION TEST AS METHOD OF DETECTION FOR CHOROIDEREMIA GENE-MUTATIONS
Authors: BEAUFRERE L TUFFERY S HAMEL C BAREIL C ARNAUD B DEMAILLE J CLAUSTRES M
Citation: L. Beaufrere et al., THE PROTEIN TRUNCATION TEST AS METHOD OF DETECTION FOR CHOROIDEREMIA GENE-MUTATIONS, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3704-3704
STABILITY OF AML1 (CORE) SITE ENHANCER MUTATIONS IN T-LYMPHOMAS INDUCED BY ATTENUATED SL3-3 MURINE LEUKEMIA-VIRUS MUTANTS
Authors: AMTOFT HW SORENSEN AB BAREIL C SCHMIDT J LUZ A PEDERSEN FS
Citation: Hw. Amtoft et al., STABILITY OF AML1 (CORE) SITE ENHANCER MUTATIONS IN T-LYMPHOMAS INDUCED BY ATTENUATED SL3-3 MURINE LEUKEMIA-VIRUS MUTANTS, Journal of virology, 71(7), 1997, pp. 5080-5087
THE PROTEIN TRUNCATION TEST (PTT) AS A METHOD OF DETECTION FOR CHOROIDEREMIA MUTATIONS
Authors: BEAUFRERE L TUFFERY S HAMEL C BAREIL C ARNAUD B DEMAILLE J CLAUSTRES M
Citation: L. Beaufrere et al., THE PROTEIN TRUNCATION TEST (PTT) AS A METHOD OF DETECTION FOR CHOROIDEREMIA MUTATIONS, Experimental Eye Research, 65(6), 1997, pp. 849-854
LINKAGE AND CANDIDATE GENES ANALYSIS IN A FAMILY WITH X-LINKED INCOMPLETE TYPE CONGENITAL STATIONARY NIGHT BLINDNESS
Authors: BAREIL C SCHMITTBERNARD CF ARNAUD B CLAUSTRES M HAMEL C DEMEEUS A
Citation: C. Bareil et al., LINKAGE AND CANDIDATE GENES ANALYSIS IN A FAMILY WITH X-LINKED INCOMPLETE TYPE CONGENITAL STATIONARY NIGHT BLINDNESS, American journal of human genetics, 61(4), 1997, pp. 1550-1550
4 NOVEL DYSTROPHIN POINT MUTATIONS - DETECTION BY PROTEIN TRUNCATION TEST AND TRANSCRIPT ANALYSIS IN LYMPHOCYTES FROM DUCHENNE MUSCULAR-DYSTROPHY PATIENTS
Authors: TUFFERY S BAREIL C DEMAILLE J CLAUSTRES M
Citation: S. Tuffery et al., 4 NOVEL DYSTROPHIN POINT MUTATIONS - DETECTION BY PROTEIN TRUNCATION TEST AND TRANSCRIPT ANALYSIS IN LYMPHOCYTES FROM DUCHENNE MUSCULAR-DYSTROPHY PATIENTS, European journal of human genetics, 4(3), 1996, pp. 143-152
SCREEN FOR MUTATIONS IN THE RPE65 GENE IN PATIENTS WITH LEBER CONGENITAL AMAUROSIS (LCA)
Authors: MARLHENS F BAREIL C GRIFFOIN JM REDMOND TM ARNAUD B CLAUSTRES M HAMEL C
Citation: F. Marlhens et al., SCREEN FOR MUTATIONS IN THE RPE65 GENE IN PATIENTS WITH LEBER CONGENITAL AMAUROSIS (LCA), Vision research, 36, 1996, pp. 438-438
AN EXONIC POLYMORPHISM IN THE CHOROIDEREMIA GENE
Authors: BEAUFRERE L TUFFERY S HAMEL C BAREIL C ARNAUD B DEMAILLE J CLAUSTRES M
Citation: L. Beaufrere et al., AN EXONIC POLYMORPHISM IN THE CHOROIDEREMIA GENE, Vision research, 36, 1996, pp. 440-440
SEQUENCE VARIATIONS IN THE RDS PERIPHERIN GENE/
Authors: BAREIL C HAMEL C BEAUFRERE L ARNAUD B DEMAILLE J CLAUSTRES M
Citation: C. Bareil et al., SEQUENCE VARIATIONS IN THE RDS PERIPHERIN GENE/, Vision research, 36, 1996, pp. 3233-3233
DETECTIONS OF CHOROIDEREMIA GENE-MUTATIONS BY THE PROTEIN TRUNCATION TEST
Authors: BEAUFRERE L TUFFERY S HAMEL C BAREIL C ARNAUD B DEMAILLE J CLAUSTRES M
Citation: L. Beaufrere et al., DETECTIONS OF CHOROIDEREMIA GENE-MUTATIONS BY THE PROTEIN TRUNCATION TEST, Vision research, 36, 1996, pp. 3235-3235
JOB INSECURITY - A METAANALYSIS
Authors: BAREIL C HACCOUN RR
Citation: C. Bareil et Rr. Haccoun, JOB INSECURITY - A METAANALYSIS, International journal of psychology, 31(3-4), 1996, pp. 5231-5231
ANALYSIS OF DYSTROPHIN ILLEGITIMATE TRANSCRIPTS - DETECTION OF POINT MUTATIONS AND EVIDENCE FOR STRUCTURE REARRANGEMENTS
Authors: TUFFERY S BAREIL C ROBERTS RG DEMAILLE J CLAUSTRES M
Citation: S. Tuffery et al., ANALYSIS OF DYSTROPHIN ILLEGITIMATE TRANSCRIPTS - DETECTION OF POINT MUTATIONS AND EVIDENCE FOR STRUCTURE REARRANGEMENTS, American journal of human genetics, 57(4), 1995, pp. 1942-1942
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