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Results: 1-25 | 26-31
Results: 1-25/31
HEREDITARY MOTOR AND SENSORY NEUROPATHY LOM TYPE IN AN ITALIAN GYPSY FAMILY
Authors: MERLINI L VILLANOVA M SABATELLI P TROGU A MALANDRINI A YANAKIEV P MARALDI NM KALAYDJIEVA L
Citation: L. Merlini et al., HEREDITARY MOTOR AND SENSORY NEUROPATHY LOM TYPE IN AN ITALIAN GYPSY FAMILY, Neuromuscular disorders, 8(3-4), 1998, pp. 182-185
HMSNL IN A 13-YEAR-OLD BULGARIAN GIRL
Authors: BAETHMANN M GOHLICHRATMANN G SCHRODER JM KALAYDJIEVA L VOIT T
Citation: M. Baethmann et al., HMSNL IN A 13-YEAR-OLD BULGARIAN GIRL, Neuromuscular disorders, 8(2), 1998, pp. 90-94
LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE
Authors: MERLINI L BAROIS A DEMONTE A ECHENNE B GALLANO P JARRE L KALAYDJIEVA L LEVYGOMES A NAVARRO C TOUTAIN A TURNEV I URTIZBEREA A VALLAT JM VOIT T WARTER JM KAPLAN JC
Citation: L. Merlini et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE, Neurology, 50(4), 1998, pp. 3020-3020
IDENTIFICATION OF PKDL, A NOVEL POLYCYSTIC KIDNEY-DISEASE 2-LIKE GENEWHOSE MURINE HOMOLOG IS DELETED IN MICE WITH KIDNEY AND RETINAL DEFECTS
Authors: NOMURA H TURCO AE PEI Y KALAYDJIEVA L SCHIAVELLO T WEREMOWICZ S JI WZ MORTON CC MEISLER M REEDERS ST ZHOU J
Citation: H. Nomura et al., IDENTIFICATION OF PKDL, A NOVEL POLYCYSTIC KIDNEY-DISEASE 2-LIKE GENEWHOSE MURINE HOMOLOG IS DELETED IN MICE WITH KIDNEY AND RETINAL DEFECTS, The Journal of biological chemistry, 273(40), 1998, pp. 25967-25973
THE GENE FOR THE HUMAN SRC-LIKE ADAPTER PROTEIN (HSLAP) IS LOCATED WITHIN THE 64-KB INTRON OF THE THYROGLOBULIN GENE
Authors: MEIJERINK PHS YANAKIEV P ZORN I GRIERSON AJ BIKKER H DYE D KALAYDJIEVA L BAAS F
Citation: Phs. Meijerink et al., THE GENE FOR THE HUMAN SRC-LIKE ADAPTER PROTEIN (HSLAP) IS LOCATED WITHIN THE 64-KB INTRON OF THE THYROGLOBULIN GENE, European journal of biochemistry, 254(2), 1998, pp. 297-303
HEREDITARY MOTOR AND SENSORY NEUROPATHY - LOM, A NOVEL DEMYELINATING NEUROPATHY ASSOCIATED WITH DEAFNESS IN GYPSIES - CLINICAL, ELECTROPHYSIOLOGICAL AND NERVE BIOPSY FINDINGS
Authors: KALAYDJIEVA L NIKOLOVA A TURNEV I PETROVA J HRISTOVA A ISHPEKOVA B PETKOVA I SHMAROV A STANCHEVA S MIDDLETON L MERLINI L TROGU A MUDDLE JR KING RHM THOMAS PK
Citation: L. Kalaydjieva et al., HEREDITARY MOTOR AND SENSORY NEUROPATHY - LOM, A NOVEL DEMYELINATING NEUROPATHY ASSOCIATED WITH DEAFNESS IN GYPSIES - CLINICAL, ELECTROPHYSIOLOGICAL AND NERVE BIOPSY FINDINGS, Brain, 121, 1998, pp. 399-408
DATING THE ORIGIN OF THE CCR5-DELTA-32 AIDS-RESISTANCE ALLELE BY THE COALESCENCE OF HAPLOTYPES
Authors: STEPHENS JC REICH DE GOLDSTEIN DB SHIN HD SMITH MW CARRINGTON M WINKLER C HUTTLEY GA ALLIKMETS R SCHRIML L GERRARD B MALASKY M RAMOS MD MORLOT S TZETIS M ODDOUX C DIGIOVINE FS NASIOULAS G CHANDLER D ASEEV M HANSON M KALAYDJIEVA L GLAVAC D GASPARINI P KANAVAKIS E CLAUSTRES M KAMBOURIS M OSTRER H DUFF G BARANOV V SIBUL H METSPALU A GOLDMAN D MARTIN N DUFFY D SCHMIDTKE J ESTIVILL X OBRIEN SJ DEAN M
Citation: Jc. Stephens et al., DATING THE ORIGIN OF THE CCR5-DELTA-32 AIDS-RESISTANCE ALLELE BY THE COALESCENCE OF HAPLOTYPES, American journal of human genetics, 62(6), 1998, pp. 1507-1515
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
SSCP ANALYSIS - A BLIND SENSITIVITY TRIAL
Authors: JORDANOVA A KALAYDJIEVA L SAVOV A CLAUSTRES M SCHWARZ M ESTIVILL X ANGELICHEVA D HAWORTH A CASALS T KREMENSKY I
Citation: A. Jordanova et al., SSCP ANALYSIS - A BLIND SENSITIVITY TRIAL, Human mutation, 10(1), 1997, pp. 65-70
CYSTIC-FIBROSIS MUTATIONS AND ASSOCIATED HAPLOTYPES IN BULGARIA - A COMPARATIVE POPULATION GENETIC-STUDY
Authors: ANGELICHEVA D CALAFELL F SAVOV A JORDANOVA A KUFARDJIEVA A GALEVA I NEDKOVA V IVANOVA T YANKOVA P KONSTANTINOVA D GENEV E KALAYDJIEVA L
Citation: D. Angelicheva et al., CYSTIC-FIBROSIS MUTATIONS AND ASSOCIATED HAPLOTYPES IN BULGARIA - A COMPARATIVE POPULATION GENETIC-STUDY, Human genetics, 99(4), 1997, pp. 513-520
LINKAGE STUDY OF BIPOLAR-DISORDER WITH CHROMOSOME-18 AND CHROMOSOME-21 MARKERS IN 2 BULGARIAN GYPSY FAMILIES
Authors: KANEVA R MILANOVA V ONCHEV G STOYANOVA V CHAKAROVA C NIKOLOVA A HALLMAYER J MILENSKA T KOROV G KREMENSKY I KALAYDJIEVA L JABLENSKY A
Citation: R. Kaneva et al., LINKAGE STUDY OF BIPOLAR-DISORDER WITH CHROMOSOME-18 AND CHROMOSOME-21 MARKERS IN 2 BULGARIAN GYPSY FAMILIES, American journal of medical genetics, 74(6), 1997, pp. 673-673
GENE-MAPPING IN GYPSIES IDENTIFIES A NOVEL DEMYELINATING NEUROPATHY ON CHROMOSOME 8Q24
Authors: KALAYDJIEVA L HALLMAYER J CHANDLER D SAVOV A NIKOLOVA A ANGELICHEVA D KING RHH ISHPEKOVA B HONEYMAN K CALAFELL F SHMAROV A PETROVA J TURNEV I HRISTOVA A MOSKOV M STANCHEVA S PETKOVA I BITTLES AH GEORGIEVA V MIDDLETON L THOMAS PK
Citation: L. Kalaydjieva et al., GENE-MAPPING IN GYPSIES IDENTIFIES A NOVEL DEMYELINATING NEUROPATHY ON CHROMOSOME 8Q24, Nature genetics, 14(2), 1996, pp. 214-217
FROM ASIA TO EUROPE - MITOCHONDRIAL-DNA SEQUENCE VARIABILITY IN BULGARIANS AND TURKS
Authors: CALAFELL F UNDERHILL P TOLUN A ANGELICHEVA D KALAYDJIEVA L
Citation: F. Calafell et al., FROM ASIA TO EUROPE - MITOCHONDRIAL-DNA SEQUENCE VARIABILITY IN BULGARIANS AND TURKS, Annals of Human Genetics, 60, 1996, pp. 35-49
2176INSC - A NOVEL MUTATION IN EXON-13 OF THE CYSTIC-FIBROSIS GENE
Authors: SAVOV A ANGELICHEVA D JORDANOVA A KREMENSKY I KALAYDJIEVA L
Citation: A. Savov et al., 2176INSC - A NOVEL MUTATION IN EXON-13 OF THE CYSTIC-FIBROSIS GENE, Human heredity, 46(3), 1996, pp. 166-167
PANCREATIC INSUFFICIENCY AND PULMONARY-DISEASE IN GERMAN AND SLAVIC CYSTIC-FIBROSIS PATIENTS WITH THE R347P MUTATION
Authors: VARON R STUHRMANN M MACEK M KUFARDJIEVA A ANGELICHEVA D MAGDORF K JORDANOVA A SAVOV A WAHN U MACEK M LALOV V IVANOVA T ELLEMUNTER H VAVROVA V FERAK V KAYSEROVA H REIS A KALAYDJIEVA L
Citation: R. Varon et al., PANCREATIC INSUFFICIENCY AND PULMONARY-DISEASE IN GERMAN AND SLAVIC CYSTIC-FIBROSIS PATIENTS WITH THE R347P MUTATION, Human mutation, 6(3), 1995, pp. 219-225
MAPPING OF A DISTAL FORM OF SPINAL MUSCULAR-ATROPHY WITH UPPER-LIMB PREDOMINANCE TO CHROMOSOME 7P
Authors: CHRISTODOULOU K KYRIAKIDES T HRISTOVA AH GEORGIOU DM KALAYDJIEVA L YSHPEKOVA B IVANOVA T WEBER JL MIDDLETON LT
Citation: K. Christodoulou et al., MAPPING OF A DISTAL FORM OF SPINAL MUSCULAR-ATROPHY WITH UPPER-LIMB PREDOMINANCE TO CHROMOSOME 7P, Human molecular genetics, 4(9), 1995, pp. 1629-1632
DOUBLE MUTANT ALLELES - ARE THEY RARE
Authors: SAVOV A ANGELICHEVA D BALASSOPOULOU A JORDANOVA A NOUSSIAARVANITAKIS S KALAYDJIEVA L
Citation: A. Savov et al., DOUBLE MUTANT ALLELES - ARE THEY RARE, Human molecular genetics, 4(7), 1995, pp. 1169-1171
GENETIC-HETEROGENEITY OF POLYCYSTIC KIDNEY-DISEASE IN BULGARIA
Authors: BOGDANOVA N DWORNICZAK B DRAGOVA D TODOROV V DIMITRAKOV D KALINOV K HALLMAYER J HORST J KALAYDJIEVA L
Citation: N. Bogdanova et al., GENETIC-HETEROGENEITY OF POLYCYSTIC KIDNEY-DISEASE IN BULGARIA, Human genetics, 95(6), 1995, pp. 645-650
AUTOSOMAL-DOMINANT MOTOR NEURONOPATHY PREDOMINANTLY AFFECTING THE HANDS
Authors: MIDDLETON LT HRISTOVA AH KALAYDJIEVA L YSHPEKOVA B IVANOVA T CHRISTODOULOU K KYRIAKIDES T
Citation: Lt. Middleton et al., AUTOSOMAL-DOMINANT MOTOR NEURONOPATHY PREDOMINANTLY AFFECTING THE HANDS, Neurology, 45(4), 1995, pp. 448-448
THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS
Authors: MORRAL N BERTRANPETIT J ESTIVILL X NUNES V CASALS T GIMENEZ J REIS A VARONMATEEVA R MACEK M KALAYDJIEVA L ANGELICHEVA D DANCHEVA R ROMEO G RUSSO MP GARNERONE S RESTAGNO G FERRARI M MAGNANI C CLAUSTRES M DESGEORGES M SCHWARTZ M SCHWARZ M DALLAPICCOLA B NOVELLI G FEREC C DEARCE M NEMETI M KERE T ANVRET M DAHL N KADASI L
Citation: N. Morral et al., THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS, Nature genetics, 7(2), 1994, pp. 169-175
CYSTIC-FIBROSIS PATIENTS FROM THE BLACK-SEA REGION - THE 1677DELTA MUTATION
Authors: ANGELICHEVA D BOTEVA K JORDANOVA A SAVOV A KUFARDJIEVA A TOLUN A TELATAR M AKARSUBASI A KOPRUBASI F AYDOGDU S DEMIRKOL M KURDOGLU G CONSTANTINOUDELTAS CD GEORGIOU C DEAN M IVASCHENKO T BARANOV V KALAYDJIEVA L
Citation: D. Angelicheva et al., CYSTIC-FIBROSIS PATIENTS FROM THE BLACK-SEA REGION - THE 1677DELTA MUTATION, Human mutation, 3(4), 1994, pp. 353-357
IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT SEQUENCING (VOL 3, PG 57, 1994)/
Authors: SAVOV A MERCIER B KALAYDJIEVA L FEREC C
Citation: A. Savov et al., IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT SEQUENCING (VOL 3, PG 57, 1994)/, Human molecular genetics, 3(6), 1994, pp. 1034-1034
G1244V - A NOVEL MISSENSE MUTATION IN EXON-20 OF THE CFTR GENE IN A BULGARIAN CYSTIC-FIBROSIS PATIENT
Authors: SAVOV A JORDANOVA A GAVRILOV D ANGELICHEVA D KALAYDJIEVA L
Citation: A. Savov et al., G1244V - A NOVEL MISSENSE MUTATION IN EXON-20 OF THE CFTR GENE IN A BULGARIAN CYSTIC-FIBROSIS PATIENT, Human molecular genetics, 3(3), 1994, pp. 513-514
IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT DNA-SEQUENCING (VOL 3, PG 57, 1994)/
Authors: SAVOV A MERCIER B KALAYDJIEVA L FEREC C
Citation: A. Savov et al., IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT DNA-SEQUENCING (VOL 3, PG 57, 1994)/, Human molecular genetics, 3(3), 1994, pp. 530-530
IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT DNA-SEQUENCING/
Authors: SAVOV A MERCIER B KALAYDJIEVA L FEREC C
Citation: A. Savov et al., IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT DNA-SEQUENCING/, Human molecular genetics, 3(1), 1994, pp. 57-60
Risultati: 1-25 | 26-31