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Results: 1-25 | 26-28
Results: 1-25/28
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
KERATO-EPITHELIN MUTATIONS IN 4 5Q31-LINKED CORNEAL DYSTROPHIES
Authors: MUNIER FL KORVATSKA E DJEMAI A LEPASLIER D ZOGRAFOS L PESCIA G SCHORDERET DF
Citation: Fl. Munier et al., KERATO-EPITHELIN MUTATIONS IN 4 5Q31-LINKED CORNEAL DYSTROPHIES, Nature genetics, 15(3), 1997, pp. 247-251
GENETIC SERVICES IN SWITZERLAND
Authors: PESCIA G
Citation: G. Pescia, GENETIC SERVICES IN SWITZERLAND, European journal of human genetics, 5, 1997, pp. 174-177
FREQUENCY AND IMPACT OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN THE SEYCHELLES (INDIAN-OCEAN)
Authors: YERSIN C BOVET P WAUTERS JP SCHORDERET DF PESCIA G PACCAUD F
Citation: C. Yersin et al., FREQUENCY AND IMPACT OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN THE SEYCHELLES (INDIAN-OCEAN), Nephrology, dialysis, transplantation, 12(10), 1997, pp. 2069-2074
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
2 KERATO-EPITHELIN MUTATION HOTSPOTS CAUSE MORE THAN 90-PERCENT OF THE 5Q31-LINKED AUTOSOMAL-DOMINANT CORNEAL DYSTROPHIES
Authors: KORVATSKA E MUNIER FL DJEMAI A WANG MX FRUH B CHIOU AGY HIROZ A UFFER S BALLESTRAZZI E BRAUNSTEIN RE FORSTER RK CULBERTSON WW BOMAN H ZOGRAFOS L PESCIA G SCHORDERET DF
Citation: E. Korvatska et al., 2 KERATO-EPITHELIN MUTATION HOTSPOTS CAUSE MORE THAN 90-PERCENT OF THE 5Q31-LINKED AUTOSOMAL-DOMINANT CORNEAL DYSTROPHIES, American journal of human genetics, 61(4), 1997, pp. 98-98
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
PREGNANCY-ASSOCIATED PLASMA-PROTEIN-A (PAPP-A) - MEASUREMENT BY HIGHLY SENSITIVE AND SPECIFIC ENZYME-IMMUNOASSAY, IMPORTANCE OF FIRST-TRIMESTER SERUM DETERMINATIONS, AND STABILITY STUDIES
Authors: BERSINGER NA MARGUERAT P PESCIA G SCHNEIDER H
Citation: Na. Bersinger et al., PREGNANCY-ASSOCIATED PLASMA-PROTEIN-A (PAPP-A) - MEASUREMENT BY HIGHLY SENSITIVE AND SPECIFIC ENZYME-IMMUNOASSAY, IMPORTANCE OF FIRST-TRIMESTER SERUM DETERMINATIONS, AND STABILITY STUDIES, Reproduction, fertility and development, 7(6), 1996, pp. 1419-1423
DELINEATION OF A 1-CM REGION ON DISTAL 5Q CONTAINING THE LOCUS FOR CORNEAL DYSTROPHIES GROENOUW TYPE-I AND LATTICE TYPE-I AND EXCLUSION OF THE CANDIDATE GENES SPARC AND LOX
Authors: KORVATSKA E MUNIER FL ZOGRAFOS L AHMAD F FAGGIONI R DOLIVOBEURET A UFFER S PESCIA G SCHORDERET DF
Citation: E. Korvatska et al., DELINEATION OF A 1-CM REGION ON DISTAL 5Q CONTAINING THE LOCUS FOR CORNEAL DYSTROPHIES GROENOUW TYPE-I AND LATTICE TYPE-I AND EXCLUSION OF THE CANDIDATE GENES SPARC AND LOX, European journal of human genetics, 4(4), 1996, pp. 214-218
FAMILIAL HYPEREKPLEXIA - A STARTLE DISEAS E
Authors: BERNASCONI A REGLI F SCHORDERET DF PESCIA G
Citation: A. Bernasconi et al., FAMILIAL HYPEREKPLEXIA - A STARTLE DISEAS E, Revue neurologique, 152(6-7), 1996, pp. 447-450
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
LINKAGE OF AUTOSOMAL-DOMINANT RADIAL DRUSEN (MALATTIA LEVENTINESE) TOCHROMOSOME 2P16-21
Authors: HEON E PIGUET B MUNIER F SNEED SR MORGAN CM FORNI S PESCIA G SCHORDERET D TAYLOR CM STREB LM WILES CD NISHIMURA DY SHEFFIELD VC STONE EM
Citation: E. Heon et al., LINKAGE OF AUTOSOMAL-DOMINANT RADIAL DRUSEN (MALATTIA LEVENTINESE) TOCHROMOSOME 2P16-21, Archives of ophthalmology, 114(2), 1996, pp. 193-198
A SENSITIVE ENZYME-IMMUNOASSAY FOR PREGNANCY-ASSOCIATED PLASMA-PROTEIN-A (PAPP-A) - A POSSIBLE FIRST TRIMESTER METHOD OF SCREENING FOR DOWN-SYNDROME AND OTHER TRISOMIES
Authors: BERSINGER NA ZAKHER A HUBER U PESCIA G SCHNEIDER H
Citation: Na. Bersinger et al., A SENSITIVE ENZYME-IMMUNOASSAY FOR PREGNANCY-ASSOCIATED PLASMA-PROTEIN-A (PAPP-A) - A POSSIBLE FIRST TRIMESTER METHOD OF SCREENING FOR DOWN-SYNDROME AND OTHER TRISOMIES, Archives of gynecology and obstetrics, 256(4), 1995, pp. 185-192
ZERMATT MACULAR DYSTROPHY - A NEW AUTOSOMAL-DOMINANT PHENOTYPE AND EXCLUSION OF KNOWN MACULAR GENES
Authors: PIQUET B MUNIER FL HEON E PESCIA G SCHORDERET DF STONE E
Citation: B. Piquet et al., ZERMATT MACULAR DYSTROPHY - A NEW AUTOSOMAL-DOMINANT PHENOTYPE AND EXCLUSION OF KNOWN MACULAR GENES, Vision research, 35, 1995, pp. 4122-4122
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
MALATTIA-LEVANTINESE - EXCLUSION OF KNOWN DISEASE-CAUSING GENES ASSOCIATED WITH MACULAR DYSTROPHIES
Authors: MUNIER FL PIGUET B HEON E PESCIA G SHEFFIELD VL SCHRODERET DF STONE EM
Citation: Fl. Munier et al., MALATTIA-LEVANTINESE - EXCLUSION OF KNOWN DISEASE-CAUSING GENES ASSOCIATED WITH MACULAR DYSTROPHIES, American journal of human genetics, 57(4), 1995, pp. 1931-1931
AN ADDITIONAL FAMILY WITH STARTLE DISEASE AND A G1192A MUTATION AT THE ALPHA-1 SUBUNIT OF THE INHIBITORY GLYCINE RECEPTOR GENE
Authors: SCHORDERET DF PESCIA G BERNASCONI A REGLI F
Citation: Df. Schorderet et al., AN ADDITIONAL FAMILY WITH STARTLE DISEASE AND A G1192A MUTATION AT THE ALPHA-1 SUBUNIT OF THE INHIBITORY GLYCINE RECEPTOR GENE, Human molecular genetics, 3(7), 1994, pp. 1201-1201
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
PUTATIVE NON-MENDELIAN TRANSMISSION OF RETINOBLASTOMA IN MALES - A PHENOTYPIC SEGREGATION ANALYSIS OF 150 PEDIGREES
Authors: MUNIER FL ARABIEN L FLODMAN P SPENCE MA PESCIA G RUTZ HP MURPHREE AL
Citation: Fl. Munier et al., PUTATIVE NON-MENDELIAN TRANSMISSION OF RETINOBLASTOMA IN MALES - A PHENOTYPIC SEGREGATION ANALYSIS OF 150 PEDIGREES, Human genetics, 94(5), 1994, pp. 484-490
MIDTERM RESULTS WITH CULTURED EPIDERMAL AUTOGRAFTS, ALLOGENIC SKIN TRANSPLANTS AND CYCLOSPORINE-A MEDICATION
Authors: KRUPP S WIESNER L KRSTIC R PESCIA G WINISTORFER B
Citation: S. Krupp et al., MIDTERM RESULTS WITH CULTURED EPIDERMAL AUTOGRAFTS, ALLOGENIC SKIN TRANSPLANTS AND CYCLOSPORINE-A MEDICATION, Burns, 20(1), 1994, pp. 15-20
ABSENCE OR REDUCTION OF TOTAL IGM IN FETAL BLOOD AS AN INDICATION FORCYTOGENETIC ANALYSIS
Authors: HOHLFELD P VIAL Y PESCIA G
Citation: P. Hohlfeld et al., ABSENCE OR REDUCTION OF TOTAL IGM IN FETAL BLOOD AS AN INDICATION FORCYTOGENETIC ANALYSIS, Prenatal diagnosis, 14(1), 1994, pp. 75-76
MEDICAL-ETHICAL GUIDELINES FOR GENETIC INVESTIGATIONS IN HUMANS
Authors: MULLER H DEONNA T ABBT I BACHMANN C BRUCKNER C BUHLER E COURVOISIER B DAYER P FUCHS E GELZER J GUILLOD O GUTZWILLER F HEIERLI C HITZIG W MOSER H MOHRBAUMANN E PESCIA G SITTERLIVER B THEVOZ JM WALDBOTH Y WEBER W WICKI S
Citation: H. Muller et al., MEDICAL-ETHICAL GUIDELINES FOR GENETIC INVESTIGATIONS IN HUMANS, Schweizerische medizinische Wochenschrift, 124(22), 1994, pp. 974-979
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
NON-MENDELIAN TRANSMISSION OF RETINOBLASTOMA IN MALES
Authors: ARABIAN L MUNIER FL FLODMAN P SPENCE MA PESCIA G RUTZ HP MURPHREE AL
Citation: L. Arabian et al., NON-MENDELIAN TRANSMISSION OF RETINOBLASTOMA IN MALES, American journal of human genetics, 53(3), 1993, pp. 201-201
Risultati: 1-25 | 26-28