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Results: 1-25 |
Results: 25
CLINICAL OBSERVATIONS IN AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA IN CHILDHOOD AND FURTHER EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: TOPALOGLU H PINARLI G ERDEM H GUCUYENER K KARADUMAN A TOPCU M AKARSU AN OZGUC M
Citation: H. Topaloglu et al., CLINICAL OBSERVATIONS IN AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA IN CHILDHOOD AND FURTHER EVIDENCE FOR GENETIC-HETEROGENEITY, Neuropediatrics, 29(4), 1998, pp. 189-194
MESOAXIAL COMPLETE SYNDACTYLY AND SYNOSTOSIS WITH HYPOPLASTIC THUMBS - AN UNUSUAL COMBINATION OR HOMOZYGOUS EXPRESSION OF SYNDACTYLY TYPE-I
Authors: PERCIN EF PERCIN S EGILMEZ H SEZGIN I OZBAS F AKARSU AN
Citation: Ef. Percin et al., MESOAXIAL COMPLETE SYNDACTYLY AND SYNOSTOSIS WITH HYPOPLASTIC THUMBS - AN UNUSUAL COMBINATION OR HOMOZYGOUS EXPRESSION OF SYNDACTYLY TYPE-I, Journal of Medical Genetics, 35(10), 1998, pp. 868-874
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
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
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
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
MESOAXIAL COMPLETE SYNDACTYLY AND SYNOSTOSIS WITH HYPOPLASTIC THUMBS - HOMOZYGOUS FEATURE OF SYNDACTYLY TYPE-I
Authors: PERCIN EF PERCIN S EGILMEZ H SEZGIN I OZBAS F AKARSU AN
Citation: Ef. Percin et al., MESOAXIAL COMPLETE SYNDACTYLY AND SYNOSTOSIS WITH HYPOPLASTIC THUMBS - HOMOZYGOUS FEATURE OF SYNDACTYLY TYPE-I, American journal of human genetics, 61(4), 1997, pp. 613-613
MAPPING OF THE 2ND LOCUS OF POSTAXIAL POLYDACTYLY TYPE-A (PAP-A2) TO CHROMOSOME 13Q21-Q32
Authors: AKARSU AN OZBAS F KOSTAKOGLU N
Citation: An. Akarsu et al., MAPPING OF THE 2ND LOCUS OF POSTAXIAL POLYDACTYLY TYPE-A (PAP-A2) TO CHROMOSOME 13Q21-Q32, American journal of human genetics, 61(4), 1997, pp. 1542-1542
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
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
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
MAPPING A MAJOR LOCUS FOR PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) TO 2P21 AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: AKARSU AN HOSSAIN A STOILOV I TURACLI ME AKTAN SG BARSOUMHOMSY M CHEVRETTE L SARFARAZI M
Citation: An. Akarsu et al., MAPPING A MAJOR LOCUS FOR PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) TO 2P21 AND EVIDENCE FOR GENETIC-HETEROGENEITY, Investigative ophthalmology & visual science, 37(3), 1996, pp. 2075-2075
LOCALIZATION OF THE SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) LOCUS TO 2Q31REGION AND IDENTIFICATION OF TIGHT LINKAGE TO HOXD8 INTRAGENIC MARKER
Authors: SARFARAZI M AKARSU AN SAYLI BS
Citation: M. Sarfarazi et al., LOCALIZATION OF THE SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) LOCUS TO 2Q31REGION AND IDENTIFICATION OF TIGHT LINKAGE TO HOXD8 INTRAGENIC MARKER, Human molecular genetics, 4(8), 1995, pp. 1453-1458
ASSIGNMENT OF A LOCUS (GLC3A) FOR PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) TO 2P21 AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: SARFARAZI M AKARSU AN HOSSAIN A TURACLI ME AKTAN SG BARSOUMHOMSY M CHEVRETTE L SAYLI BS
Citation: M. Sarfarazi et al., ASSIGNMENT OF A LOCUS (GLC3A) FOR PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS) TO 2P21 AND EVIDENCE FOR GENETIC-HETEROGENEITY, Genomics, 30(2), 1995, pp. 171-177
ANOPHTHALMOS-SYNDACTYLY (WAARDENBURG) SYNDROME WITHOUT OLIGODACTYLY OF TOES
Authors: SAYLI BS AKARSU AN ALTAN S
Citation: Bs. Sayli et al., ANOPHTHALMOS-SYNDACTYLY (WAARDENBURG) SYNDROME WITHOUT OLIGODACTYLY OF TOES, American journal of medical genetics, 58(1), 1995, pp. 18-20
GENETIC-LINKAGE STUDY OF PRIMARY CONGENITAL GLAUCOMA
Authors: AKARSU AN TURACLI ME HOSSAIN A BARSOUMHOMSY M CHEVRETTE L AKTAN G SARFARAZI M
Citation: An. Akarsu et al., GENETIC-LINKAGE STUDY OF PRIMARY CONGENITAL GLAUCOMA, Investigative ophthalmology & visual science, 36(4), 1995, pp. 555-555
A LARGE TURKISH KINDRED WITH SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) .1. FIELD INVESTIGATION, CLINICAL AND PEDIGREE DATA
Authors: SAYLI BS AKARSU AN SAYLI U AKHAN O CEYLANER S SARFARAZI M
Citation: Bs. Sayli et al., A LARGE TURKISH KINDRED WITH SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) .1. FIELD INVESTIGATION, CLINICAL AND PEDIGREE DATA, Journal of Medical Genetics, 32(6), 1995, pp. 421-434
A LARGE TURKISH KINDRED WITH SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) .2. HOMOZYGOUS PHENOTYPE
Authors: AKARSU AN AKHAN O SAYLI BS SAYLI U BASKAYA G SARFARAZI M
Citation: An. Akarsu et al., A LARGE TURKISH KINDRED WITH SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) .2. HOMOZYGOUS PHENOTYPE, Journal of Medical Genetics, 32(6), 1995, pp. 435-441
LOCALIZATION OF THE SYNPOLYDACTYL LOCUS TO 2Q31 REGION AND IDENTIFICATION OF TIGHT LINKAGE TO THE HOXD GENE-CLUSTER
Authors: SARFARAZI M AKARSU AN SAYLI BS
Citation: M. Sarfarazi et al., LOCALIZATION OF THE SYNPOLYDACTYL LOCUS TO 2Q31 REGION AND IDENTIFICATION OF TIGHT LINKAGE TO THE HOXD GENE-CLUSTER, American journal of human genetics, 57(4), 1995, pp. 1164-1164
PHENOTYPE-GENOTYPE CORRELATION OF 7 HOMOZYGOTE INDIVIDUALS IN A LARGEKINDRED WITH SYNPOLYDACTYLY
Authors: AKARSU AN STOILOV I SAYLI BS SARFARAZI M
Citation: An. Akarsu et al., PHENOTYPE-GENOTYPE CORRELATION OF 7 HOMOZYGOTE INDIVIDUALS IN A LARGEKINDRED WITH SYNPOLYDACTYLY, American journal of human genetics, 57(4), 1995, pp. 1352-1352
EXCLUSION MAPPING OR AUTOSOMAL RECESSIVE PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS)
Authors: HOSSAIN A AKARSU AN TURACLI ME AKTAN SG BARSOUMHOMSY M CHEVRETTE L SAYLI BS SARFARAZI M
Citation: A. Hossain et al., EXCLUSION MAPPING OR AUTOSOMAL RECESSIVE PRIMARY CONGENITAL GLAUCOMA (BUPHTHALMOS), American journal of human genetics, 57(4), 1995, pp. 1879-1879
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