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Results: 1-25 | 26-29
Results: 1-25/29
PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS
Authors: MAUGARD C TUFFERY S AGUILARMARTINEZ P SCHVED JF GRIS JC DEMAILLE J CLAUSTRES M
Citation: C. Maugard et al., PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS, Human mutation, 11(1), 1998, pp. 18-22
PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS
Authors: MAUGARD C TUFFERY S AGUILARMARTINEZ P SCHVED JF GRIS JC DEMAILLE J CLAUSTRES M
Citation: C. Maugard et al., PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS, Human mutation, 11(1), 1998, pp. 18-22
MUTATION IN THE 5'-NONCODING REGION OF THE SRY GENE IN AN XY SEX-REVERSED PATIENT
Authors: POULAT F DESCLOZEAUX M TUFFERY S JAY P BOIZET B BERTA P
Citation: F. Poulat et al., MUTATION IN THE 5'-NONCODING REGION OF THE SRY GENE IN AN XY SEX-REVERSED PATIENT, Human mutation, 1998, pp. 192-194
USEFULNESS OF TRANSCRIPTS ANALYSIS TO DIRECTLY CONFIRM THE EFFECT OF THE SPLICING MUTATIONS IN REP-1 MESSENGER-RNA PROCESSING
Authors: BEAUFRERE L RIEU S HACHE JC DEMUR V CLAUSTRES M TUFFERY S
Citation: L. Beaufrere et al., USEFULNESS OF TRANSCRIPTS ANALYSIS TO DIRECTLY CONFIRM THE EFFECT OF THE SPLICING MUTATIONS IN REP-1 MESSENGER-RNA PROCESSING, European journal of human genetics, 6, 1998, pp. 4225-4225
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
ALTERED REP-1 EXPRESSION DUE TO SUBSTITUTION AT POSITION--DONOR SITE OF THE CHOROIDEREMIA (CHM) GENE(3 OF THE IVS13 SPLICE)
Authors: BEAUFRERE L RIEU S HACHE JC DUMUR V CLAUSTRES M TUFFERY S
Citation: L. Beaufrere et al., ALTERED REP-1 EXPRESSION DUE TO SUBSTITUTION AT POSITION--DONOR SITE OF THE CHOROIDEREMIA (CHM) GENE(3 OF THE IVS13 SPLICE), Current eye research (Print), 17(7), 1998, pp. 726-729
MOLECULAR DIAGNOSIS OF CHOROIDEREMIA
Authors: BEAUFRERE L GIRARDET A ARNAUD B CLAUSTRES M TUFFERY S
Citation: L. Beaufrere et al., MOLECULAR DIAGNOSIS OF CHOROIDEREMIA, Journal francais d'ophtalmologie, 21(5), 1998, pp. 345-350
RETINOBLASTOMA - IMPORTANCE OF GENETIC-CO UNSELING
Authors: GIRARDET A BEAUFRERE L TUFFERY S CLAUSTRES M PELLESTOR F
Citation: A. Girardet et al., RETINOBLASTOMA - IMPORTANCE OF GENETIC-CO UNSELING, Journal francais d'ophtalmologie, 21(4), 1998, pp. 295-301
MOSAIC EXPRESSION OF 2 DYSTROPHINS IN A BOY WITH PROGRESSIVE MUSCULAR-DYSTROPHY
Authors: RIVIER F TUFFERY S JELLALI AJ ECHENNE B MORNET D PONS F
Citation: F. Rivier et al., MOSAIC EXPRESSION OF 2 DYSTROPHINS IN A BOY WITH PROGRESSIVE MUSCULAR-DYSTROPHY, Muscle & nerve, 21(10), 1998, pp. 1317-1320
AMPLIFICATION OF THE RB1.20 POLYMORPHISM IN SINGLE SPERMATOZOA
Authors: GIRARDET A PELLESTOR F TUFFERY S CLAUSTRES M MUNIER F DUPERRAY C
Citation: A. Girardet et al., AMPLIFICATION OF THE RB1.20 POLYMORPHISM IN SINGLE SPERMATOZOA, Journal of assisted reproduction and genetics, 14(3), 1997, pp. 176-179
SEVERE HEMOPHILIA-A IN SOUTHERN FRANCE - DETECTION OF 3 NOVEL MUTATIONS AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS
Authors: MAUGARD C TUFFERY S AGUILARMARTINEZ P GRIS JC SCHVED JF DEMAILLE J CLAUSTRES M
Citation: C. Maugard et al., SEVERE HEMOPHILIA-A IN SOUTHERN FRANCE - DETECTION OF 3 NOVEL MUTATIONS AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS, Thrombosis and haemostasis, 1997, pp. 927-927
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
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
LACK OF EVIDENCE FOR CONNEXIN-43 GENE-MUTATIONS IN HUMAN AUTOSOMAL RECESSIVE LATERALIZATION DEFECTS
Authors: DEBRUS S TUFFERY S MATSUOKA R GALAL O SARDA P SAUER U BOZIO A TANMAN B TOUTAIN A CLAUSTRES M LEPASLIER D BOUVAGNET P
Citation: S. Debrus et al., LACK OF EVIDENCE FOR CONNEXIN-43 GENE-MUTATIONS IN HUMAN AUTOSOMAL RECESSIVE LATERALIZATION DEFECTS, Journal of Molecular and Cellular Cardiology, 29(5), 1997, pp. 1423-1431
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
RECURRENT PIG-A MUTATION (IVS5-]A) IN A PEDIATRIC CASE OF PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA - DETECTION BY THE PROTEIN TRUNCATION TEST(1G)
Authors: MAUGARD C MARGUERITTE G TUFFERY S RABESANDRATANA H DEMAILLE J CLAUSTRES M
Citation: C. Maugard et al., RECURRENT PIG-A MUTATION (IVS5-]A) IN A PEDIATRIC CASE OF PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA - DETECTION BY THE PROTEIN TRUNCATION TEST(1G), British Journal of Haematology, 98(1), 1997, pp. 21-24
A NOVEL MUTATION (S558X) CAUSING CHOROIDEREMIA
Authors: BEAUFRERE L TUFFERY S HAMEL C ARNAUD B DEMAILLE J CLAUSTRES M
Citation: L. Beaufrere et al., A NOVEL MUTATION (S558X) CAUSING CHOROIDEREMIA, Human mutation, 8(4), 1996, pp. 395-395
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
DEFORMATION OF CURVES WITH GROUP ACTION . 2.
Authors: TUFFERY S
Citation: S. Tuffery, DEFORMATION OF CURVES WITH GROUP ACTION . 2., Forum mathematicum, 8(2), 1996, pp. 205-218
TRANSCRIPT ANALYSIS OF CFTR FRAMESHIFT MUTATIONS IN LYMPHOCYTES USINGTHE REVERSE-TRANSCRIPTION POLYMERASE-CHAIN-REACTION TECHNIQUE AND THEPROTEIN TRUNCATION TEST
Authors: ROMEY MC TUFFERY S DESGEORGES M BIENVENU T DEMAILLE J CLAUSTRES M
Citation: Mc. Romey et al., TRANSCRIPT ANALYSIS OF CFTR FRAMESHIFT MUTATIONS IN LYMPHOCYTES USINGTHE REVERSE-TRANSCRIPTION POLYMERASE-CHAIN-REACTION TECHNIQUE AND THEPROTEIN TRUNCATION TEST, Human genetics, 98(3), 1996, pp. 328-332
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
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
PROTEIN TRUNCATION TEST - ANALYSIS OF 2 NOVEL POINT MUTATIONS AT THE CARBOXY-TERMINUS OF THE HUMAN DYSTROPHIN GENE ASSOCIATED WITH MENTAL-RETARDATION
Authors: TUFFERY S LENK U ROBERTS RG COUBES C DEMAILLE J CLAUSTRES M
Citation: S. Tuffery et al., PROTEIN TRUNCATION TEST - ANALYSIS OF 2 NOVEL POINT MUTATIONS AT THE CARBOXY-TERMINUS OF THE HUMAN DYSTROPHIN GENE ASSOCIATED WITH MENTAL-RETARDATION, Human mutation, 6(2), 1995, pp. 126-135
AUTOMORPHISMS OF CURVES OF GENUS-3 IN CHA RACTERISTIC-2
Authors: TUFFERY S
Citation: S. Tuffery, AUTOMORPHISMS OF CURVES OF GENUS-3 IN CHA RACTERISTIC-2, Comptes rendus de l'Academie des sciences. Serie 1, Mathematique, 321(2), 1995, pp. 205-210
Risultati: 1-25 | 26-29