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Results: 1-14 |
Results: 14
FIRST PUTATIVE SEQUENCE ALTERATIONS IN THE MINIMAL CFTR PROMOTER REGION
Authors: ROMEY MC METTLING C CLAUSTRES M
Citation: Mc. Romey et al., FIRST PUTATIVE SEQUENCE ALTERATIONS IN THE MINIMAL CFTR PROMOTER REGION, American journal of human genetics, 61(4), 1997, pp. 1045-1045
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
A NOVEL MUTATION IN THE CFTR GENE - I506T IN EXON-10
Authors: DESGEORGES M ROMEY MC COUBES C DEMAILLE J CLAUSTRES M
Citation: M. Desgeorges et al., A NOVEL MUTATION IN THE CFTR GENE - I506T IN EXON-10, Human mutation, 6(3), 1995, pp. 279-279
NOVEL MISSENSE MUTATION IN THE FIRST TRANSMEMBRANE SEGMENT OF THE CFTR GENE (Q98R) IDENTIFIED IN A MALE-ADULT
Authors: ROMEY MC DESGEORGES M RAY P GODARD P DEMAILLE J CLAUSTRES M
Citation: Mc. Romey et al., NOVEL MISSENSE MUTATION IN THE FIRST TRANSMEMBRANE SEGMENT OF THE CFTR GENE (Q98R) IDENTIFIED IN A MALE-ADULT, Human mutation, 6(2), 1995, pp. 190-191
HETEROTAXIA SYNDROME AND AUTOSOMAL-DOMINANT INHERITANCE
Authors: ALONSO S PIERPONT ME RADTKE W MARTINEZ J CHEN SC GRANT JW DAHNERT I TAVIAUX S ROMEY MC DEMAILLE J BOUVAGNET P
Citation: S. Alonso et al., HETEROTAXIA SYNDROME AND AUTOSOMAL-DOMINANT INHERITANCE, American journal of medical genetics, 56(1), 1995, pp. 12-15
MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS
Authors: CHILLON M CASALS T MERCIER B BASSAS L LISSENS W SILBER S ROMEY MC RUIZROMERO J VERLINGUE C CLAUSTRES M NUNES V FEREC C ESTIVILL X
Citation: M. Chillon et al., MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS, The New England journal of medicine, 332(22), 1995, pp. 1475-1480
A NOVEL MUTATION (VAL-373 TO GLU) IN THE CATALYTIC DOMAIN OF FACTOR-IX, RESULTING IN MODERATELY SEVERE HEMOPHILIA-B IN A SOUTHERN FRENCH PATIENT
Authors: AGUILARMARTINEZ P ROMEY MC GRIS JC SCHVED JF DEMAILLE J CLAUSTRES M
Citation: P. Aguilarmartinez et al., A NOVEL MUTATION (VAL-373 TO GLU) IN THE CATALYTIC DOMAIN OF FACTOR-IX, RESULTING IN MODERATELY SEVERE HEMOPHILIA-B IN A SOUTHERN FRENCH PATIENT, Human mutation, 3(2), 1994, pp. 156-158
2 NOVEL RARE FRAMESHIFT MUTATIONS (2423-DEL-G IN EXON-13 AND 1215-DEL-G IN EXON-7) AND ONE NOVEL RARE SEQUENCE VARIATION (3271-C OR 3271+18-T) IDENTIFIED IN A PATIENT WITH CYSTIC-FIBROSIS(18)
Authors: ROMEY MC DESGEORGES M LAUSSEL M DURAND MF DEMAILLE J CLAUSTRES M
Citation: Mc. Romey et al., 2 NOVEL RARE FRAMESHIFT MUTATIONS (2423-DEL-G IN EXON-13 AND 1215-DEL-G IN EXON-7) AND ONE NOVEL RARE SEQUENCE VARIATION (3271-C OR 3271+18-T) IDENTIFIED IN A PATIENT WITH CYSTIC-FIBROSIS(18), Human molecular genetics, 3(6), 1994, pp. 1003-1004
HOMOZYGOSITY FOR A NOVEL MISSENSE MUTATION (I175V) IN EXON-5 OF THE CFTR GENE IN A FAMILY OF ARMENIAN DESCENT
Authors: ROMEY MC DESGEORGES M MALZAC P SARLES J DEMAILLE J CLAUSTRES M
Citation: Mc. Romey et al., HOMOZYGOSITY FOR A NOVEL MISSENSE MUTATION (I175V) IN EXON-5 OF THE CFTR GENE IN A FAMILY OF ARMENIAN DESCENT, Human molecular genetics, 3(4), 1994, pp. 661-662
A NOVEL SPLICE-SITE MUTATION IN THE FIRST EXON OF THE CYSTIC-FIBROSISTRANSMEMBRANE REGULATOR (CFTR) GENE IDENTIFIED IN A CBAVD PATIENT
Authors: CULARD JF DESGEORGES M ROMEY MC MALZAC P DEMAILLE J CLAUSTRES M
Citation: Jf. Culard et al., A NOVEL SPLICE-SITE MUTATION IN THE FIRST EXON OF THE CYSTIC-FIBROSISTRANSMEMBRANE REGULATOR (CFTR) GENE IDENTIFIED IN A CBAVD PATIENT, Human molecular genetics, 3(2), 1994, pp. 369-370
FACTOR-IX GENE-MUTATIONS CAUSING HEMOPHILIA-B - COMPARISON OF SSC SCREENING VERSUS SYSTEMATIC DNA-SEQUENCING AND DIAGNOSTIC APPLICATIONS
Authors: AGUILARMARTINEZ P ROMEY MC SCHVED JF GRIS JC DEMAILLE J CLAUSTRES M
Citation: P. Aguilarmartinez et al., FACTOR-IX GENE-MUTATIONS CAUSING HEMOPHILIA-B - COMPARISON OF SSC SCREENING VERSUS SYSTEMATIC DNA-SEQUENCING AND DIAGNOSTIC APPLICATIONS, Human genetics, 94(3), 1994, pp. 287-290
DIRECT CARRIER TESTING OF HEMOPHILIA-B BY SSCP
Authors: MARTINEZ PA ROMEY MC SCHVED JF GRIS JC DEMAILLE J CLAUSTRES M
Citation: Pa. Martinez et al., DIRECT CARRIER TESTING OF HEMOPHILIA-B BY SSCP, Clinical and laboratory haematology, 16(1), 1994, pp. 15-20
RAPID DETECTION OF SINGLE NUCLEOTIDE DELETIONS - APPLICATION TO THE BETA-6(-A) MUTATION OF THE BETA-GLOBIN GENE AND TO CYSTIC-FIBROSIS
Authors: ROMEY MC AGUILARMARTINEZ P DEMAILLE J CLAUSTRES M
Citation: Mc. Romey et al., RAPID DETECTION OF SINGLE NUCLEOTIDE DELETIONS - APPLICATION TO THE BETA-6(-A) MUTATION OF THE BETA-GLOBIN GENE AND TO CYSTIC-FIBROSIS, Human genetics, 92(6), 1993, pp. 627-628
A RAPID SCREENING STRATEGY FOR DETECTION OF MUTATIONS IN THE FACTOR-IX GENE - USEFULNESS FOR CARRIER DETECTION AND PRENATAL-DIAGNOSIS
Authors: SCHVED JF MARTINEZ PA ROMEY MC GRIS JC NAVARRO R DEMAILLE J CLAUSTRES M
Citation: Jf. Schved et al., A RAPID SCREENING STRATEGY FOR DETECTION OF MUTATIONS IN THE FACTOR-IX GENE - USEFULNESS FOR CARRIER DETECTION AND PRENATAL-DIAGNOSIS, Thrombosis and haemostasis, 69(6), 1993, pp. 850-850
Risultati: 1-14 |