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Results: 1-13 |
Results: 13
PROGNOSTIC FACTORS ASSOCIATED WITH LOSS OF HETEROZYGOSITY AT THE RB1 LOCUS IN RETINOBLASTOMA
Authors: MUNIER FL THONNEY F BALMER A UFFER S HEON E VANMELLE G RUTZ HP PESCIA G SCHORDERET DF
Citation: Fl. Munier et al., PROGNOSTIC FACTORS ASSOCIATED WITH LOSS OF HETEROZYGOSITY AT THE RB1 LOCUS IN RETINOBLASTOMA, Ophthalmic genetics, 18(1), 1997, pp. 7-12
NEW MUTATION, 3905INST, ACCOUNTS FOR 4.8-PERCENT OF 1173 CF CHROMOSOMES IN SWITZERLAND AND CAUSES A SEVERE PHENOTYPE
Authors: HERGERSBERG M BALAKRISHNAN J BETTECKEN T CHEVALIERPORST F BRAGGER C BURGER R EINSCHENK I LIECHTIGALLATI S MORRIS M SCHORDERET D THONNEY F MOSER H MALIK N
Citation: M. Hergersberg et al., NEW MUTATION, 3905INST, ACCOUNTS FOR 4.8-PERCENT OF 1173 CF CHROMOSOMES IN SWITZERLAND AND CAUSES A SEVERE PHENOTYPE, Human genetics, 100(2), 1997, pp. 220-223
2 NEW CASES OF PARTIAL TRISOMY 16P DUE TO A MATERNAL 7-16-REARRANGEMENT - SYNERGY OF HIGH-RESOLUTION BANDING, FISH TECHNIQUES AND CHROMOSOME PAINTING AS DIAGNOSTIC-TOOLS
Authors: ADDOR MC GAIDE AC THONNEY F PESCIA G
Citation: Mc. Addor et al., 2 NEW CASES OF PARTIAL TRISOMY 16P DUE TO A MATERNAL 7-16-REARRANGEMENT - SYNERGY OF HIGH-RESOLUTION BANDING, FISH TECHNIQUES AND CHROMOSOME PAINTING AS DIAGNOSTIC-TOOLS, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 192-192
X-LINKED ANHIDROTIC ECTODERMAL DYSPLASIA (EDA) IN FEMALE TWINS WITH ADE-NOVO (X-9) TRANSLOCATION
Authors: ADDOR MC GUDINCHET F THONNEY F PESCIA G SCHORDERET DF
Citation: Mc. Addor et al., X-LINKED ANHIDROTIC ECTODERMAL DYSPLASIA (EDA) IN FEMALE TWINS WITH ADE-NOVO (X-9) TRANSLOCATION, American journal of human genetics, 61(4), 1997, pp. 659-659
SEX MUTATION RATIO IN RETINOBLASTOMA AND RETINOMA - RELEVANCE TO GENETIC-COUNSELING
Authors: MUNIER FL THONNEY F BALMER A HEON E PESCIA G SCHORDERET DF
Citation: Fl. Munier et al., SEX MUTATION RATIO IN RETINOBLASTOMA AND RETINOMA - RELEVANCE TO GENETIC-COUNSELING, Klinische Monatsblatter fur Augenheilkunde, 208(5), 1996, pp. 400-403
EFFICIENCY OF MOLECULAR-BASED DIAGNOSIS I N 15 RETINOBLASTOMA FAMILIES
Authors: LENDI B PESCIA G THONNEY F BALMER A MUNIER F
Citation: B. Lendi et al., EFFICIENCY OF MOLECULAR-BASED DIAGNOSIS I N 15 RETINOBLASTOMA FAMILIES, Klinische Monatsblatter fur Augenheilkunde, 206(5), 1995, pp. 336-338
PRENATAL-DIAGNOSIS OF A FETUS AT RISK FOR NORRIS DISEASE
Authors: SCHRODERET DF CHIESA C PHAM HT AHMAD F THONNEY F MUNIER FL PESCIA G
Citation: Df. Schroderet et al., PRENATAL-DIAGNOSIS OF A FETUS AT RISK FOR NORRIS DISEASE, American journal of human genetics, 57(4), 1995, pp. 1674-1674
A NEW MUTATION, 3905INST, IS PROMINENT AMONG SWISS CF CHROMOSOMES
Authors: HERGERSBERG M BALAKRISHNAN J BETTECKEN T BOZON D BRAGGER C BURGER R EINSCHENK I MORRIS M SCHORDERET D THONNEY F MOSER FH MALIK N
Citation: M. Hergersberg et al., A NEW MUTATION, 3905INST, IS PROMINENT AMONG SWISS CF CHROMOSOMES, American journal of human genetics, 57(4), 1995, pp. 1918-1918
APPLICATION OF FLUORESCENT IN-SITU HYBRID IZATION (FISH) IN PRENATAL DIAGNOSTICS
Authors: PESCIA G FOKSTUEN S THONNEY F
Citation: G. Pescia et al., APPLICATION OF FLUORESCENT IN-SITU HYBRID IZATION (FISH) IN PRENATAL DIAGNOSTICS, Archives of gynecology and obstetrics, 255, 1994, pp. 367-371
PSEUDO LOW PENETRANCE IN RETINOBLASTOMA - FORTUITOUS FAMILIAL AGGREGATION OF SPORADIC CASES CAUSED BY INDEPENDENTLY DERIVED MUTATIONS IN 2 LARGE PEDIGREES
Authors: MUNIER FL WANG MX SPENCE MA THONNEY F BALMER A PESCIA G DONOSO LA MURPHREE AL
Citation: Fl. Munier et al., PSEUDO LOW PENETRANCE IN RETINOBLASTOMA - FORTUITOUS FAMILIAL AGGREGATION OF SPORADIC CASES CAUSED BY INDEPENDENTLY DERIVED MUTATIONS IN 2 LARGE PEDIGREES, Archives of ophthalmology, 111(11), 1993, pp. 1507-1511
A VERY FREQUENT FRAMESHIFT MUTATION OF THE CYSTIC-FIBROSIS GENE IN THE SWISS POPULATION
Authors: MALIK NJ MORRIS MA THONNEY F BUHLER EM
Citation: Nj. Malik et al., A VERY FREQUENT FRAMESHIFT MUTATION OF THE CYSTIC-FIBROSIS GENE IN THE SWISS POPULATION, American journal of human genetics, 53(3), 1993, pp. 1198-1198
A COMPOUND HETEROZYGOTE FEMALE DETECTED IN A FAMILY WITH FRAGILE-X SYNDROME
Authors: SCHORDERET DF PILLET N PESCIA G THONNEY F
Citation: Df. Schorderet et al., A COMPOUND HETEROZYGOTE FEMALE DETECTED IN A FAMILY WITH FRAGILE-X SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1757-1757
MOLECULAR-BASIS OF LOW PENETRANT MUTANT ALLELES OF THE RETINOBLASTOMASUSCEPTIBILITY GENE
Authors: MUNIER F FUNG YK BALMER A PESCIA G THONNEY F WU KJ SHI XH TANG A MURPHREE AL
Citation: F. Munier et al., MOLECULAR-BASIS OF LOW PENETRANT MUTANT ALLELES OF THE RETINOBLASTOMASUSCEPTIBILITY GENE, Investigative ophthalmology & visual science, 33(4), 1992, pp. 1244-1244
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