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Results: 1-25 | 26-27
Results: 1-25/27
RHODOPSIN C110Y MUTATION CAUSES A TYPE-2 AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: MILLA E HEON E GROUNAUER PA PIGUET B DUCREY N STONE EM SCHORDERET DF MUNIER FL
Citation: E. Milla et al., RHODOPSIN C110Y MUTATION CAUSES A TYPE-2 AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Ophthalmic genetics, 19(3), 1998, pp. 131-139
DRES93, A NOVEL HOMEODOMAIN-CONTAINING CDNA SELECTIVELY EXPRESSED IN THE DEVELOPING RETINA IS A CANDIDATE FOR HUMAN EYE MALFORMATIONS
Authors: BARBIERI AM BULFONE A MARCHITIELLO A MUNIER F BITOUN P SCHORDERET DF BORSANI G BALLABIO A BANFI S
Citation: Am. Barbieri et al., DRES93, A NOVEL HOMEODOMAIN-CONTAINING CDNA SELECTIVELY EXPRESSED IN THE DEVELOPING RETINA IS A CANDIDATE FOR HUMAN EYE MALFORMATIONS, European journal of human genetics, 6, 1998, pp. 4132-4132
CLINICAL AND GENETIC DESCRIPTION OF 2 FAM ILIES WITH DOMINANT OPTIC ATROPHY OF KJIER (LOCUS 3Q28)
Authors: LEFEVRE A HIROZ C ZOGRAFOS L SCHORDERET DF MUNIER FL
Citation: A. Lefevre et al., CLINICAL AND GENETIC DESCRIPTION OF 2 FAM ILIES WITH DOMINANT OPTIC ATROPHY OF KJIER (LOCUS 3Q28), Klinische Monatsblatter fur Augenheilkunde, 212(5), 1998, pp. 301-304
MUTATIONAL SCREENING OF PERIPHERINE RDS, RHODOPSINE AND ROM-1 GENES IN 69 INDEX PATIENTS WITH RETINITIS-PIGMENTOSA AND ALLIED RETINAL DYSTROPHIES/
Authors: MILLA E HEON E PIGUET B DUCREY N BUTLER N STONE E SCHORDERET DF MUNIER F
Citation: E. Milla et al., MUTATIONAL SCREENING OF PERIPHERINE RDS, RHODOPSINE AND ROM-1 GENES IN 69 INDEX PATIENTS WITH RETINITIS-PIGMENTOSA AND ALLIED RETINAL DYSTROPHIES/, Klinische Monatsblatter fur Augenheilkunde, 212(5), 1998, pp. 305-308
GENE LOCALIZATION FOR ACULEIFORM CATARACT, ON CHROMOSOME 2Q33-35
Authors: HEON E LIU S BILLINGSLEY G BERNASCONI O TSIFILDIS C SCHORDERET DF MUNIER FL
Citation: E. Heon et al., GENE LOCALIZATION FOR ACULEIFORM CATARACT, ON CHROMOSOME 2Q33-35, American journal of human genetics, 63(3), 1998, pp. 921-926
MUTATION HOT-SPOTS IN 5Q31-LINKED CORNEAL DYSTROPHIES
Authors: KORVATSKA E MUNIER FL DJEMAI A WANG MX FRUEH B CHIOU AGY UFFER S BALLESTRAZZI E BRAUNSTEIN RE FORSTER RK CULBERTSON WW BOMAN H ZOGRAFOS L SCHORDERET DF
Citation: E. Korvatska et al., MUTATION HOT-SPOTS IN 5Q31-LINKED CORNEAL DYSTROPHIES, American journal of human genetics, 62(2), 1998, pp. 320-324
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
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
PRENATAL-DIAGNOSIS OF LAMELLAR ICHTHYOSIS BY DIRECT MUTATIONAL ANALYSIS OF THE KERATINOCYTE TRANSGLUTAMINASE GENE
Authors: SCHORDERET DF HUBER M LAURINI RN VONMOOS G GIANADDA B DELEZE G HOHL D
Citation: Df. Schorderet et al., PRENATAL-DIAGNOSIS OF LAMELLAR ICHTHYOSIS BY DIRECT MUTATIONAL ANALYSIS OF THE KERATINOCYTE TRANSGLUTAMINASE GENE, Prenatal diagnosis, 17(5), 1997, pp. 483-486
5Q31-LINKED CORNEAL DYSTROPHIES - GENOTYPE-PHENOTYPE CORRELATION AT THE KERATO-EPITHELIN GENE LOCUS
Authors: MUNIER F KORVATSKA E DJEMAI A WANG MX HEON E CHIOU A UFFER S OTHENINGIRARD P HIROZ A BALESTRAZZI E FORSTER RK CULBERTSON WW ZOGRAFOS L SCHORDERET DF
Citation: F. Munier et al., 5Q31-LINKED CORNEAL DYSTROPHIES - GENOTYPE-PHENOTYPE CORRELATION AT THE KERATO-EPITHELIN GENE LOCUS, Investigative ophthalmology & visual science, 38(4), 1997, pp. 4454-4454
CLONING AND CHARACTERIZATION OF HELICOBACTER-PYLORI SUCCINYL COA-ACETOACETATE COA-TRANSFERASE, A NOVEL PROKARYOTIC MEMBER OF THE COA-TRANSFERASE FAMILY
Authors: CORTHESYTHEULAZ IE BERGONZELLI GE HENRY H BACHMANN D SCHORDERET DF BLUM AL ORNSTON LN
Citation: Ie. Corthesytheulaz et al., CLONING AND CHARACTERIZATION OF HELICOBACTER-PYLORI SUCCINYL COA-ACETOACETATE COA-TRANSFERASE, A NOVEL PROKARYOTIC MEMBER OF THE COA-TRANSFERASE FAMILY, The Journal of biological chemistry, 272(41), 1997, pp. 25659-25667
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
FULL CHARACTERIZATION OF THE MACULOPATHY ASSOCIATED WITH AN ARG-172-TRP MUTATION IN THE RDS PERIPHERIN GENE/
Authors: PIGUET B HEON E MUNIER FL GROUNAUER PA NIEMEYER G BUTLER N SCHORDERET DF SHEFFIELD VC STONE EM
Citation: B. Piguet et al., FULL CHARACTERIZATION OF THE MACULOPATHY ASSOCIATED WITH AN ARG-172-TRP MUTATION IN THE RDS PERIPHERIN GENE/, Ophthalmic genetics, 17(4), 1996, pp. 175-186
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
THE HUMAN TAX1 GENE ENCODING THE AXON-ASSOCIATED CELL-ADHESION MOLECULE TAG-1 AXONIN-1 - GENOMIC STRUCTURE AND BASIC PROMOTER/
Authors: KOZLOV SV GIGER RJ HASLER T KORVATSKA E SCHORDERET DF SONDEREGGER P
Citation: Sv. Kozlov et al., THE HUMAN TAX1 GENE ENCODING THE AXON-ASSOCIATED CELL-ADHESION MOLECULE TAG-1 AXONIN-1 - GENOMIC STRUCTURE AND BASIC PROMOTER/, Genomics, 30(2), 1995, pp. 141-148
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
MUTATIONS OF KERATINOCYTE TRANSGLUTAMINASE IN LAMELLAR ICHTHYOSIS
Authors: HUBER M RETTLER I BERNASCONI K FRENK E LAVRIJSEN SPM PONEC M BON A LAUTENSCHLAGER S SCHORDERET DF HOHL D
Citation: M. Huber et al., MUTATIONS OF KERATINOCYTE TRANSGLUTAMINASE IN LAMELLAR ICHTHYOSIS, Science, 267(5197), 1995, pp. 525-528
CHARACTERIZATION OF THE PROMOTER REGION OF THE MOUSE XIST GENE
Authors: PILLET N BONNY C SCHORDERET DF
Citation: N. Pillet et al., CHARACTERIZATION OF THE PROMOTER REGION OF THE MOUSE XIST GENE, Proceedings of the National Academy of Sciences of the United Statesof America, 92(26), 1995, pp. 12515-12519
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
A MULTICENTER STUDY ON GENOTYPE-PHENOTYPE CORRELATIONS IN THE FRAGILE-X-SYNDROME, USING DIRECT DIAGNOSIS WITH PROBE STB-12.3 - THE FIRST 2,253 CASES
Authors: ROUSSEAU F HEITZ D TARLETON J MACPHERSON J MALMGREN H DAHL N BARNICOAT A MATHEW C MORNET E TEJADA I MADDALENA A SPIEGEL R SCHINZEL A MARCOS JAG SCHORDERET DF SCHAAP T MACCIONI L RUSSO S JACOBS PA SCHWARTZ C MANDEL JL
Citation: F. Rousseau et al., A MULTICENTER STUDY ON GENOTYPE-PHENOTYPE CORRELATIONS IN THE FRAGILE-X-SYNDROME, USING DIRECT DIAGNOSIS WITH PROBE STB-12.3 - THE FIRST 2,253 CASES, American journal of human genetics, 55(2), 1994, pp. 225-237
A COLLABORATIVE MULTICENTER STUDY OF DIRECT DIAGNOSIS OF THE FRAGILE-X SYNDROME WITH PROBE STB12.3 - THE 1ST 2253 CASES
Authors: ROUSSEAU F HEITZ D TARLETON J MACPHERSON J PETTERSON U MATHEW C MORNET E MADDALENA A SCHINZEL A MARCOS JAG SCHORDERET DF SCHAAP T MACCIONI L RUSSO S JACOBS PA SCHWARTZ C MANDEL JL
Citation: F. Rousseau et al., A COLLABORATIVE MULTICENTER STUDY OF DIRECT DIAGNOSIS OF THE FRAGILE-X SYNDROME WITH PROBE STB12.3 - THE 1ST 2253 CASES, American journal of human genetics, 53(3), 1993, pp. 78-78
Risultati: 1-25 | 26-27