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Results: 1-14 |
Results: 14
IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA
Authors: MORNET E TAILLANDIER A PEYRAMAURE S KAPER F MULLER F BRENNER R BUSSIERE P FREISINGER P GODARD J LEMERRER M OURY JF PLAUCHU H PUDDU R RIVAL JM SUPERTIFURGA A TOURAINE RL SERRE JL SIMONBOUY B
Citation: E. Mornet et al., IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA, European journal of human genetics, 6(4), 1998, pp. 308-314
IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE GENE IN EUROPEAN PATIENTS WITH HYPOPHOSPHATASIA
Authors: MORNET E TAILLANDIER A PEYRAMAURE S KAPER F MULLER F SERRE JL SIMONBOUY B
Citation: E. Mornet et al., IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE GENE IN EUROPEAN PATIENTS WITH HYPOPHOSPHATASIA, European journal of human genetics, 6, 1998, pp. 4002-4002
CYSTIC-FIBROSIS SCREENING - A FETUS WITH HYPERECHOGENIC BOWEL MAY BE THE INDEX CASE
Authors: MULLER F DOMMERGUES M SIMONBOUY B FEREC C OURY JF AUBRY MC BESSIS R VUILLARD E DENAMUR E BIENVENU T SERRE JL
Citation: F. Muller et al., CYSTIC-FIBROSIS SCREENING - A FETUS WITH HYPERECHOGENIC BOWEL MAY BE THE INDEX CASE, Journal of Medical Genetics, 35(8), 1998, pp. 657-660
THE INTERMEDIATE ALLELES OF THE FRAGILE-X CGG REPEAT IN PATIENTS WITHMENTAL-RETARDATION
Authors: MORNET E CHATEAU C SIMONBOUY B SERRE JL
Citation: E. Mornet et al., THE INTERMEDIATE ALLELES OF THE FRAGILE-X CGG REPEAT IN PATIENTS WITHMENTAL-RETARDATION, Clinical genetics, 53(3), 1998, pp. 200-201
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
SCREENING OF THE C677T MUTATION ON THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IN FRENCH PATIENTS WITH NEURAL-TUBE DEFECTS
Authors: MORNET E MULLER F LENVOISEFURET A DELEZOIDE AL COL JY SIMONBOUY B SERRE JL
Citation: E. Mornet et al., SCREENING OF THE C677T MUTATION ON THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IN FRENCH PATIENTS WITH NEURAL-TUBE DEFECTS, Human genetics, 100(5-6), 1997, pp. 512-514
MOLECULAR-BIOLOGY OF FRAGILE-X SYNDROME - APPLICATIONS TO GENETIC-COUNSELING AND MOLECULAR DIAGNOSIS
Authors: MORNET E SIMONBOUY B
Citation: E. Mornet et B. Simonbouy, MOLECULAR-BIOLOGY OF FRAGILE-X SYNDROME - APPLICATIONS TO GENETIC-COUNSELING AND MOLECULAR DIAGNOSIS, Archives de pediatrie, 3(8), 1996, pp. 814-821
RECURRENT AND UNEXPECTED SEGREGATION OF THE FMR1 CGG REPEAT IN A FAMILY WITH FRAGILE-X SYNDROME
Authors: MORNET E CHATEAU C TAILLANDIER A SIMONBOUY B SERRE JL
Citation: E. Mornet et al., RECURRENT AND UNEXPECTED SEGREGATION OF THE FMR1 CGG REPEAT IN A FAMILY WITH FRAGILE-X SYNDROME, Human genetics, 97(4), 1996, pp. 512-515
PARENTAL ORIGIN AND MECHANISMS OF FORMATION OF 3 CASES OF 12P TETRASOMY
Authors: TURLEAU C SIMONBOUY B AUSTRUY E GRISARD MC LEMAIRE F MOLINAGOMES D SIFFROI JP BOUE J
Citation: C. Turleau et al., PARENTAL ORIGIN AND MECHANISMS OF FORMATION OF 3 CASES OF 12P TETRASOMY, Clinical genetics, 50(1), 1996, pp. 41-46
SCREENING OF CYP21 GENE-MUTATIONS IN 129 FRENCH PATIENTS AFFECTED BY STEROID 21-HYDROXYLASE DEFICIENCY
Authors: BARBAT B BOGYO A RAUXDEMAY MC KUTTENN F BOUE J SIMONBOUY B SERRE JL BOUE A MORNET E
Citation: B. Barbat et al., SCREENING OF CYP21 GENE-MUTATIONS IN 129 FRENCH PATIENTS AFFECTED BY STEROID 21-HYDROXYLASE DEFICIENCY, Human mutation, 5(2), 1995, pp. 126-130
HYPERECHOGENIC FETAL BOWEL - AN ULTRASONOGRAPHIC MARKER FOR ADVERSE FETAL AND NEONATAL OUTCOME
Authors: MULLER F DOMMERGUES M AUBRY MC SIMONBOUY B GAUTIER E OURY JF NARCY F
Citation: F. Muller et al., HYPERECHOGENIC FETAL BOWEL - AN ULTRASONOGRAPHIC MARKER FOR ADVERSE FETAL AND NEONATAL OUTCOME, American journal of obstetrics and gynecology, 173(2), 1995, pp. 508-513
FRAXAC2 INSTABILITY
Authors: MORNET E CHATEAU C TAILLANDIER A MONTAGNON M SIMONBOUY B SERRE JL BOUE A
Citation: E. Mornet et al., FRAXAC2 INSTABILITY, Nature genetics, 7(2), 1994, pp. 122-123
A POLYMORPHIC POLY-A SEQUENCE IN THE 5' REGION OF THE ALDOSYNTHASE (CYP11B2) GENE MAY BE USEFUL IN GENETIC DIAGNOSIS OF 11-BETA-HYDROXYLASEGENES DEFECTS
Authors: CLOT F JAGER M SIMONBOUY B SERRE JL AUPETITFAISANT B MORNET E
Citation: F. Clot et al., A POLYMORPHIC POLY-A SEQUENCE IN THE 5' REGION OF THE ALDOSYNTHASE (CYP11B2) GENE MAY BE USEFUL IN GENETIC DIAGNOSIS OF 11-BETA-HYDROXYLASEGENES DEFECTS, Human genetics, 94(3), 1994, pp. 316-317
MOLECULAR ANALYSIS OF A RING CHROMOSOME-X IN A FAMILY WITH FRAGILE-X SYNDROME
Authors: MORNET E BOGYO A DELUCHAT C SIMONBOUY B MATHIEU M THEPOT F GRISARD MC LEGUERN E BOUE J BOUE A
Citation: E. Mornet et al., MOLECULAR ANALYSIS OF A RING CHROMOSOME-X IN A FAMILY WITH FRAGILE-X SYNDROME, Human genetics, 92(4), 1993, pp. 373-378
Risultati: 1-14 |