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Results:
1-14
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Results: 14
Authors:
ARS E
KRUYER H
GAONA A
CASQUERO P
ROSELL J
VOLPINI V
SERRA E
LAZARO C
ESTIVILL X
Citation: E. Ars et al., A CLINICAL VARIANT OF NEUROFIBROMATOSIS TYPE-1 - FAMILIAL SPINAL NEUROFIBROMATOSIS WITH A FRAMESHIFT MUTATION IN THE NF1 GENE, American journal of human genetics, 62(4), 1998, pp. 834-841
Authors:
ARS E
KRUYER H
GAONA A
CASQUERO P
ROSELL J
SERRA E
VOLPINI V
LAZARO C
ESTIVILL X
Citation: E. Ars et al., FAMILIAL SPINAL NEUROFIBROMATOSIS - IDENTIFICATION OF A FRAMESHIFT MUTATION IN EXON-46 IN THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE, American journal of human genetics, 61(4), 1997, pp. 318-318
Authors:
SERRA E
PUIG S
OTERO D
GAONA A
KRUYER H
ARS E
ESTIVILL X
LAZARO C
Citation: E. Serra et al., CONFIRMATION OF A DOUBLE-HIT MODEL FOR THE NF1 GENE IN BENIGN NEUROFIBROMAS, American journal of human genetics, 61(3), 1997, pp. 512-519
Authors:
LAZARO C
GAONA A
AINSWORTH P
TENCONI R
VIDAUD D
KRUYER H
ARS E
VOLPINI V
ESTIVILL X
Citation: C. Lazaro et al., SEX-DIFFERENCES IN MUTATIONAL RATE AND MUTATIONAL MECHANISM IN THE NF1 GENE IN NEUROFIBROMATOSIS TYPE-1 PATIENTS, Human genetics, 98(6), 1996, pp. 696-699
Authors:
LAZARO C
KRUYER H
GAONA A
ESTIVILL X
Citation: C. Lazaro et al., 2 FURTHER CASES OF MUTATION R1947X IN THE NF1 GENE - SCREENING FOR A RELATIVELY COMMON RECURRENT MUTATION, Human genetics, 96(3), 1995, pp. 361-363
Authors:
LAZARO C
GAONA A
LYNCH M
KRUYER H
RAVELLA A
ESTIVILL X
Citation: C. Lazaro et al., MOLECULAR CHARACTERIZATION OF THE BREAKPOINTS OF A 12-KB DELETION IN THE NF1 GENE IN A FAMILY SHOWING GERM-LINE MOSAICISM, American journal of human genetics, 57(5), 1995, pp. 1044-1049
Authors:
LAZARO C
GAONA A
KRUYER H
RAVELLA A
VOLPINI V
ESTIVILL X
Citation: C. Lazaro et al., MOLECULAR ANALYSIS OR THE NF1 GENE IN SPANISH PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1251-1251
Authors:
MILA M
KRUYER H
GLOVER G
SANCHEZ A
CARBONELL P
CASTELLVIBEL S
VOLPINI V
ROSELL J
GABARRON J
LOPEZ I
VILLA M
BALLESTA F
ESTIVILL X
Citation: M. Mila et al., MOLECULAR ANALYSIS OF THE (CGG)(N) EXPANSION IN THE FMR-1 GENE IN 59 SPANISH FRAGILE-X SYNDROME FAMILIES, Human genetics, 94(4), 1994, pp. 395-400
Authors:
KRUYER H
MIRANDA M
VOLPINI V
ESTIVILL X
Citation: H. Kruyer et al., CARRIER DETECTION AND MICROSATELLITE ANALYSIS OF DUCHENNE AND BECKER MUSCULAR-DYSTROPHY IN SPANISH FAMILIES, Prenatal diagnosis, 14(2), 1994, pp. 123-130
Authors:
CASTELLVIBEL S
MATILLA T
BANCHS MI
KRUYER H
CORRAL J
MILA M
ESTIVILL X
Citation: S. Castellvibel et al., CHEMILUMINESCENT DETECTION OF BLOTTED PCR PRODUCTS (CB-PCR) OF 2 CAG DYNAMIC MUTATIONS (HUNTINGTONS-DISEASE AND SPINOCEREBELLAR ATAXIA TYPE-1), Journal of Medical Genetics, 31(8), 1994, pp. 654-655
Authors:
KRUYER H
MILA M
GLOVER G
CARBONELL P
BALLESTA F
ESTIVILL X
Citation: H. Kruyer et al., FRAGILE X SYNDROME AND THE (CGG)(N) MUTATION - 2 FAMILIES WITH DISCORDANT MZ TWINS, American journal of human genetics, 54(3), 1994, pp. 437-442
Authors:
KRUYER H
MILA M
GLOVER G
CASTELLVBEL S
CARBONELL P
VOLPINI V
ESTIVILL X
Citation: H. Kruyer et al., MONOZYGOTIC TWINS DISCORDANT FOR THE FRAGILE-X SYNDROME (FXS), American journal of human genetics, 53(3), 1993, pp. 465-465
Authors:
CASTELLVIBEL S
KRUYER H
BANCHS I
MILA M
ESTIVILL X
Citation: S. Castellvibel et al., NONRADIOACTIVE PCR OF THE CGG REPEAT OF THE FRAGILE-X GENE, American journal of human genetics, 53(3), 1993, pp. 1136-1136
Authors:
MIRANDA M
KRUYER H
VOLPINI V
ESTIVILL X
Citation: M. Miranda et al., MOLECULAR-GENETIC ANALYSIS OF DUCHENE AND BECKER MUSCULAR-DYSTROPHY (D BMD) IN THE SPANISH POPULATION/, American journal of human genetics, 53(3), 1993, pp. 1205-1205
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