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Results: 1-25 | 26-50 | 51-59
Results: 1-25/59
DISTRIBUTION OF OLFACTORY RECEPTOR GENES IN THE HUMAN GENOME (VOL 18,PG 243, 1998)
Authors: ROUQUIER S TAVIAUX S TRASK BJ BRANDARPON V VANDENENGH G DEMAILLE J GIORGI D
Citation: S. Rouquier et al., DISTRIBUTION OF OLFACTORY RECEPTOR GENES IN THE HUMAN GENOME (VOL 18,PG 243, 1998), Nature genetics, 19(1), 1998, pp. 102-102
DISTRIBUTION OF OLFACTORY RECEPTOR GENES IN THE HUMAN GENOME
Authors: ROUQUIER S TAVIAUX S TRASK BJ BRANDARPON V VANDENENGH G DEMAILLE J GIORGI D
Citation: S. Rouquier et al., DISTRIBUTION OF OLFACTORY RECEPTOR GENES IN THE HUMAN GENOME, Nature genetics, 18(3), 1998, pp. 243-250
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
PHENOTYPE-GENOTYPE CORRELATION IN JEWISH PATIENTS SUFFERING FROM FAMILIAL MEDITERRANEAN FEVER (FMF)
Authors: DEWALLE M DOMINGO C ROZENBAUM M BENCHETRIT E CATTAN D BERNOT A DROSS C DUPONT M NOTARNICOLA C LEVY M ROSNER I DEMAILLE J TOUITOU I
Citation: M. Dewalle et al., PHENOTYPE-GENOTYPE CORRELATION IN JEWISH PATIENTS SUFFERING FROM FAMILIAL MEDITERRANEAN FEVER (FMF), European journal of human genetics, 6(1), 1998, pp. 95-97
NON-FOUNDER MUTATIONS IN THE MEFV GENE ESTABLISH THIS GENE AS THE CAUSE OF FAMILIAL MEDITERRANEAN FEVER (FMF)
Authors: BERNOT A DASILVA C PETIT JL CRUAUD C CALOUSTIAN C CASTET V AHMEDARAB M DROSS C DUPONT M CATTAN D SMAOUI N DODE C PECHEUX C NEDELEC B MEDAXIAN J ROZENBAUM M ROSNER I DELPECH M GRATEAU G DEMAILLE J WEISSENBACH J TOUITOU I
Citation: A. Bernot et al., NON-FOUNDER MUTATIONS IN THE MEFV GENE ESTABLISH THIS GENE AS THE CAUSE OF FAMILIAL MEDITERRANEAN FEVER (FMF), Human molecular genetics (Print), 7(8), 1998, pp. 1317-1325
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
FAMILIAL MEDITERRANEAN FEVER CLINICAL AND GENETIC FEATURES IN DRUZES AND IN IRAQI JEWS - A PRELIMINARY-STUDY
Authors: TOUITOU I BENCHETRIT E NOTARNICOLA C DOMINGO C DEWALLE M DROSS C DUPONT M DEMAILLE J ROSNER I ROZENBAUM M
Citation: I. Touitou et al., FAMILIAL MEDITERRANEAN FEVER CLINICAL AND GENETIC FEATURES IN DRUZES AND IN IRAQI JEWS - A PRELIMINARY-STUDY, Journal of rheumatology, 25(5), 1998, pp. 916-919
TOWARDS STRUCTURAL MODELS OF MOLECULAR RECOGNITION IN OLFACTORY RECEPTORS
Authors: AFSHAR M HUBBARD RE DEMAILLE J
Citation: M. Afshar et al., TOWARDS STRUCTURAL MODELS OF MOLECULAR RECOGNITION IN OLFACTORY RECEPTORS, Biochimie, 80(2), 1998, pp. 129-135
LINKAGE DISEQUILIBRIUM BETWEEN THE M470V VARIANT AND THE IVS8 POLYT ALLELES OF THE CFTR GENE IN CBAVD
Authors: DEMEEUS A GUITTARD C DESGEORGES M CARLES S DEMAILLE J CLAUSTRES M
Citation: A. Demeeus et al., LINKAGE DISEQUILIBRIUM BETWEEN THE M470V VARIANT AND THE IVS8 POLYT ALLELES OF THE CFTR GENE IN CBAVD, Journal of Medical Genetics, 35(7), 1998, pp. 594-596
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
A CANDIDATE GENE FOR FAMILIAL MEDITERRANEAN FEVER
Authors: BERNOT A CLEPET C DASILVA C DEVAUD C PETIT JL CALOUSTIAN C CRUAUD C SAMSON D PULCINI F WEISSENBACH J HEILIG R NOTANICOLA C DOMINGO C ROZENBAUM M BENCHETRIT E TOPALOGLU R DEWALLE M DROSS C HADJARI P DUPONT M DEMAILLE J TOUITOU I SMAOUI N NEDELEC B MERY JP CHAABOUNI H DELPECH M GRATEAU G
Citation: A. Bernot et al., A CANDIDATE GENE FOR FAMILIAL MEDITERRANEAN FEVER, Nature genetics, 17(1), 1997, pp. 25-31
CYSTIC-FIBROSIS IN LEBANON - DISTRIBUTION OF CFTR MUTATIONS AMONG ARAB COMMUNITIES
Authors: DESGEORGES M MEGARBANE A GUITTARD C CARLES S LOISELET J DEMAILLE J CLAUSTRES M
Citation: M. Desgeorges et al., CYSTIC-FIBROSIS IN LEBANON - DISTRIBUTION OF CFTR MUTATIONS AMONG ARAB COMMUNITIES, Human genetics, 100(2), 1997, pp. 279-283
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
JUMPING TRANSLOCATION IN A BABY WITH DANDY-WALKER MALFORMATION
Authors: LEFORT G BLANCHET P CHAZE AM SARDA P DEMAILLE J PELLESTOR F
Citation: G. Lefort et al., JUMPING TRANSLOCATION IN A BABY WITH DANDY-WALKER MALFORMATION, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 244-244
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
GENOTYPIC DIAGNOSIS OF FAMILIAL MEDITERRANEAN FEVER (FMF) USING NEW MICROSATELLITE MARKERS - EXAMPLE OF 2 EXTENSIVE NON-ASHKENAZI JEWISH PEDIGREES
Authors: DUPONT M DROSS C SMAOUI N NEDELEC B GRATEAU G CLEPET C GOURDIER I KONEPAUT I DELPECH M DEMAILLE J TOUITOU I
Citation: M. Dupont et al., GENOTYPIC DIAGNOSIS OF FAMILIAL MEDITERRANEAN FEVER (FMF) USING NEW MICROSATELLITE MARKERS - EXAMPLE OF 2 EXTENSIVE NON-ASHKENAZI JEWISH PEDIGREES, Journal of Medical Genetics, 34(5), 1997, pp. 375-381
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
PRINS LABELING REVEALS INTERSTITIAL TELOMERIC SEQUENCES IN A CONSTITUTIONAL JUMPING TRANSLOCATION
Authors: LEFORT GF BLANCHET P CHAZE AM SARDA P DEMAILLE J PELLESTOR F
Citation: Gf. Lefort et al., PRINS LABELING REVEALS INTERSTITIAL TELOMERIC SEQUENCES IN A CONSTITUTIONAL JUMPING TRANSLOCATION, American journal of human genetics, 61(4), 1997, pp. 745-745
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
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
Risultati: 1-25 | 26-50 | 51-59