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Results: 1-25 | 26-46
Results: 1-25/46
A FOUNDER EFFECT MUTATION CAUSES PRIMARY CONGENITAL GLAUCOMA IN SLOVAK ROMS (GYPSIES)
Authors: PLASILOVA M STOILOV I SARFARAZI M GERINEC A KADASI L FERAK V
Citation: M. Plasilova et al., A FOUNDER EFFECT MUTATION CAUSES PRIMARY CONGENITAL GLAUCOMA IN SLOVAK ROMS (GYPSIES), European journal of human genetics, 6, 1998, pp. 4076-4076
NOVEL TIGR MYOC MUTATIONS IN FAMILIES WITH JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA/
Authors: STOILOVA D CHILD A BRICE G DESAI T BARSOUMHOMSY M OZDEMIR N CHEVRETTE L ADAM MF GARCHON HJ CRICK RP SARFARAZI M
Citation: D. Stoilova et al., NOVEL TIGR MYOC MUTATIONS IN FAMILIES WITH JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA/, Journal of Medical Genetics, 35(12), 1998, pp. 989-992
A 3RD LOCUS (GLC1D) FOR ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA MAPS TO THE 8Q23 REGION
Authors: TRIFAN OC TRABOULSI EI STOILOVA D ALOZIE I NGUYEN R RAJA S SARFARAZI M
Citation: Oc. Trifan et al., A 3RD LOCUS (GLC1D) FOR ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA MAPS TO THE 8Q23 REGION, American journal of ophthalmology, 126(1), 1998, pp. 17-28
SEQUENCE-ANALYSIS AND HOMOLOGY MODELING SUGGEST THAT PRIMARY CONGENITAL GLAUCOMA ON 2P21 RESULTS FROM MUTATIONS DISRUPTING EITHER THE HINGEREGION OR THE CONSERVED CORE STRUCTURES OF CYTOCHROME P4501B1
Authors: STOILOV I AKARSU AN ALOZIE I CHILD A BARSOUMHOMSY M TURACLI ME OR M LEWIS RA OZDEMIR N BRICE G AKTAN SG CHEVRETTE L COCAPRADOS M SARFARAZI M
Citation: I. Stoilov et al., SEQUENCE-ANALYSIS AND HOMOLOGY MODELING SUGGEST THAT PRIMARY CONGENITAL GLAUCOMA ON 2P21 RESULTS FROM MUTATIONS DISRUPTING EITHER THE HINGEREGION OR THE CONSERVED CORE STRUCTURES OF CYTOCHROME P4501B1, American journal of human genetics, 62(3), 1998, pp. 573-584
LOCALIZATION OF THE 4TH LOCUS (GLC1E) FOR ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA TO THE 10P15-P14 REGION
Authors: SARFARAZI M CHILD A STOILOVA D BRICE G DESAI T TRIFAN OC POINOOSAWMY D CRICK RP
Citation: M. Sarfarazi et al., LOCALIZATION OF THE 4TH LOCUS (GLC1E) FOR ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA TO THE 10P15-P14 REGION, American journal of human genetics, 62(3), 1998, pp. 641-652
IDENTIFICATION OF A NEW TIGR MUTATION IN A FAMILY WITH JUVENILE-ONSETPRIMARY OPEN-ANGLE GLAUCOMA
Authors: STOILOVA D CHILD A BRICE G CRICK RP FLECK BW SARFARAZI M
Citation: D. Stoilova et al., IDENTIFICATION OF A NEW TIGR MUTATION IN A FAMILY WITH JUVENILE-ONSETPRIMARY OPEN-ANGLE GLAUCOMA, Ophthalmic genetics, 18(3), 1997, pp. 109-118
REFINEMENT OF THE LOCUS FOR AUTOSOMAL-DOMINANT JUVENILE OPTIC ATROPHYTO A 2 CM REGION ON 3Q28
Authors: STOILOVA D CHILD A DESAI SP SARFARAZI M
Citation: D. Stoilova et al., REFINEMENT OF THE LOCUS FOR AUTOSOMAL-DOMINANT JUVENILE OPTIC ATROPHYTO A 2 CM REGION ON 3Q28, Ophthalmic genetics, 18(1), 1997, pp. 1-6
IDENTIFICATION OF 3 DIFFERENT TRUNCATING MUTATIONS IN CYTOCHROME P4501B1 (CYP1B1) AS THE PRINCIPAL CAUSE OF PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) IN FAMILIES LINKED TO THE GLC3A LOCUS ON CHROMOSOME 2P21
Authors: STOILOV I AKARSU AN SARFARAZI M
Citation: I. Stoilov et al., IDENTIFICATION OF 3 DIFFERENT TRUNCATING MUTATIONS IN CYTOCHROME P4501B1 (CYP1B1) AS THE PRINCIPAL CAUSE OF PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) IN FAMILIES LINKED TO THE GLC3A LOCUS ON CHROMOSOME 2P21, Human molecular genetics, 6(4), 1997, pp. 641-647
RECENT ADVANCES IN MOLECULAR-GENETICS OF GLAUCOMAS
Authors: SARFARAZI M
Citation: M. Sarfarazi, RECENT ADVANCES IN MOLECULAR-GENETICS OF GLAUCOMAS, Human molecular genetics, 6(10), 1997, pp. 1667-1677
THE FIRST LOCUS FOR ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA (GLC1B) MAPS TO THE 2CEN-Q13 REGION
Authors: STOILOVA D CHILD A TRIFAN OC CRICK RP COAKES RL SARFARAZI M
Citation: D. Stoilova et al., THE FIRST LOCUS FOR ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA (GLC1B) MAPS TO THE 2CEN-Q13 REGION, Investigative ophthalmology & visual science, 38(4), 1997, pp. 4338-4338
MAPPING AND MUTATION SCREENING OF 2 DIFFERENT LOCI FOR PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS)
Authors: SARFARAZI M AKARSU AN STOILOV I YILMAZ E ALOZIE I TURACLI ME AKTAN SG BARSOUMHOMSY M CHEVRETTE L
Citation: M. Sarfarazi et al., MAPPING AND MUTATION SCREENING OF 2 DIFFERENT LOCI FOR PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS), Investigative ophthalmology & visual science, 38(4), 1997, pp. 2693-2693
FAMILY PEDIGREE ANALYSIS OF CHILDREN WITH SEVERE BREATH-HOLDING SPELLS
Authors: DIMARIO FJ SARFARAZI M
Citation: Fj. Dimario et M. Sarfarazi, FAMILY PEDIGREE ANALYSIS OF CHILDREN WITH SEVERE BREATH-HOLDING SPELLS, The Journal of pediatrics, 130(4), 1997, pp. 647-651
GENETIC-LINKAGE STUDY OF FAMILIAL MEDITERRANEAN FEVER (FMF) TO 16P13.3 AND EVIDENCE FOR GENETIC-HETEROGENEITY IN THE TURKISH POPULATION
Authors: AKARSU AN SAATCI U OZEN S BAKKALOGLU A BESBAS N SARFARAZI M
Citation: An. Akarsu et al., GENETIC-LINKAGE STUDY OF FAMILIAL MEDITERRANEAN FEVER (FMF) TO 16P13.3 AND EVIDENCE FOR GENETIC-HETEROGENEITY IN THE TURKISH POPULATION, Journal of Medical Genetics, 34(7), 1997, pp. 573-578
IDENTIFICATION OF CYTOCHROME P4501B1 AS THE GENE MUTATED IN PRIMARY CONGENITAL GLAUCOMA FAMILIES LINKED TO THE GLC3A LOCUS ON 2P21
Authors: STOILOV I AKARSU AN SARFARAZI M
Citation: I. Stoilov et al., IDENTIFICATION OF CYTOCHROME P4501B1 AS THE GENE MUTATED IN PRIMARY CONGENITAL GLAUCOMA FAMILIES LINKED TO THE GLC3A LOCUS ON 2P21, American journal of human genetics, 61(4), 1997, pp. 100-100
LINKAGE AND MUTATION STUDIES OF ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA (POAG) WITH TIGR AND GENES ON 4 OTHER CHROMOSOMES
Authors: SARFARAZI M CHILD A STOILOVA D BRICE G COAKES R CRICK RP
Citation: M. Sarfarazi et al., LINKAGE AND MUTATION STUDIES OF ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA (POAG) WITH TIGR AND GENES ON 4 OTHER CHROMOSOMES, American journal of human genetics, 61(4), 1997, pp. 2353-2353
IDENTIFICATION OF NEW TIGR MUTATIONS IN JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA (JOAG) FAMILIES FROM DIFFERENT POPULATIONS
Authors: STOILOVA D CHILD A FLECK BW BARSOUMHOMSY M OZDEMIR N BRICE G CRICK RP SARFARAZI M
Citation: D. Stoilova et al., IDENTIFICATION OF NEW TIGR MUTATIONS IN JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA (JOAG) FAMILIES FROM DIFFERENT POPULATIONS, American journal of human genetics, 61(4), 1997, pp. 2411-2411
A 2ND LOCUS (GLC3B) FOR PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) MAPS TO THE 1P36 REGION
Authors: AKARSU AN TURACLI ME AKTAN SG BARSOUMHOMSY M CHEVRETTE L SAYLI BS SARFARAZI M
Citation: An. Akarsu et al., A 2ND LOCUS (GLC3B) FOR PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) MAPS TO THE 1P36 REGION, Human molecular genetics, 5(8), 1996, pp. 1199-1203
GENOMIC STRUCTURE OF HOXD13 GENE - A 9-POLYALANINE DUPLICATION CAUSESSYNPOLYDACTYLY IN 2 UNRELATED FAMILIES
Authors: AKARSU AN STOILOV I YILMAZ E SAYLI BS SARFARAZI M
Citation: An. Akarsu et al., GENOMIC STRUCTURE OF HOXD13 GENE - A 9-POLYALANINE DUPLICATION CAUSESSYNPOLYDACTYLY IN 2 UNRELATED FAMILIES, Human molecular genetics, 5(7), 1996, pp. 945-952
LOCALIZATION OF A LOCUS (GLC1B) FOR ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA TO THE 2CEN-Q13 REGION
Authors: STOILOVA D CHILD A TRIFAN OC CRICK RP COAKES RL SARFARAZI M
Citation: D. Stoilova et al., LOCALIZATION OF A LOCUS (GLC1B) FOR ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA TO THE 2CEN-Q13 REGION, Genomics, 36(1), 1996, pp. 142-150
FINE MAPPING OF THE SYNPOLYDACTYLY LOCUS ON THE 2Q31 REGION
Authors: AKARSU AN SAYLI BS SARFARAZI M
Citation: An. Akarsu et al., FINE MAPPING OF THE SYNPOLYDACTYLY LOCUS ON THE 2Q31 REGION, Cytogenetics and cell genetics, 73(4), 1996, pp. 11-11
GENETIC-LINKAGE OF PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) TO CHROMOSOME 2P21 AND PHYSICAL MAPPING OF THE CANDIDATE REGION
Authors: STOILOV I AKARSU AN HOSSAIN A TURACLI ME AKTAN SG BARSOUMHOMSY M CHEVRETTE L SAYLI BS SARFARAZI M
Citation: I. Stoilov et al., GENETIC-LINKAGE OF PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) TO CHROMOSOME 2P21 AND PHYSICAL MAPPING OF THE CANDIDATE REGION, Cytogenetics and cell genetics, 73(4), 1996, pp. 12-12
REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-2 MAPPING 1996
Authors: SPURR NK BASHIR R BUSHBY K COX A COX S HILDEBRANDT F HILL N KAO FT KROLS L MARZELLA R MILLER N NOTHWANG HG ROCCHI M SARFARAZI M STRATAKIS CA WALLGRENPETTERSSON C NAYLOR S
Citation: Nk. Spurr et al., REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-2 MAPPING 1996, Cytogenetics and cell genetics, 73(4), 1996, pp. 256-268
EXCLUSION OF PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) FROM 2 CANDIDATE REGIONS OF CHROMOSOME ARM 6P AND CHROMOSOME-11 (VOL 61, PG 290, 1996)
Authors: AKARSU AN TURACLI ME AKTAN SG HOSSAIN A BARSOUMHOMSY M CHEVRETTE L SAYLI BS SARFARAZI M
Citation: An. Akarsu et al., EXCLUSION OF PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) FROM 2 CANDIDATE REGIONS OF CHROMOSOME ARM 6P AND CHROMOSOME-11 (VOL 61, PG 290, 1996), American journal of medical genetics, 62(1), 1996, pp. 102-102
EXCLUSION OF PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) FROM 2 CANDIDATE REGIONS OF CHROMOSOME ARM 6P AND CHROMOSOME-11
Authors: AKARSU AN TURACLI ME AKTAN SG HOSSAIN A BARSOUMHOMSY M CHEVRETTE L SAYLI BS SARFARAZI M
Citation: An. Akarsu et al., EXCLUSION OF PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) FROM 2 CANDIDATE REGIONS OF CHROMOSOME ARM 6P AND CHROMOSOME-11, American journal of medical genetics, 61(3), 1996, pp. 290-292
A SEARCH FOR CHROMOSOMAL LOCATION OF THE ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA (GLC1B)
Authors: STOILOVA D CHILD A TRIFAN OC BRADWAY D CRICK RP SARFARAZI M
Citation: D. Stoilova et al., A SEARCH FOR CHROMOSOMAL LOCATION OF THE ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA (GLC1B), Investigative ophthalmology & visual science, 37(3), 1996, pp. 2073-2073
Risultati: 1-25 | 26-46