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Table of contents of journal: *European journal of human genetics

Results: 1-25/1132
PARALLEL MOLECULAR-GENETIC ANALYSIS
Authors: MCKENZIE SE MANSFIELD E RAPPAPORT E SURREY S FORTINA P
Citation: Se. Mckenzie et al., PARALLEL MOLECULAR-GENETIC ANALYSIS, European journal of human genetics, 6(5), 1998, pp. 417-429
MEIOTIC SEGREGATION ANALYSIS BY FISH INVESTIGATIONS IN SPERM AND SPERMATOCYTES OF TRANSLOCATION HETEROZYGOTES
Authors: ARMSTRONG SJ HULTEN MA
Citation: Sj. Armstrong et Ma. Hulten, MEIOTIC SEGREGATION ANALYSIS BY FISH INVESTIGATIONS IN SPERM AND SPERMATOCYTES OF TRANSLOCATION HETEROZYGOTES, European journal of human genetics, 6(5), 1998, pp. 430-431
ORIGIN OF NONDISJUNCTION IN TRISOMY-8 AND TRISOMY-8 MOSAICISM
Authors: KARADIMA G BUGGE M NICOLAIDIS P VASSILOPOULOS D AVRAMOPOULOS D GRIGORIADOU M ALBRECHT B PASSARGE E ANNEREN G BLENNOW E CLAUSEN N GALLAVOUMVOURAKI A TSEZOU A KITSIOUTZELI S HAHNEMANN JM HERTZ JM HOUGE G KUKLIK M MACEK M LACOMBE D MILLER K MONCLA A PAJARES IL PATSALIS PC PRIEUR M VEKEMANS M VONBEUST G BRONDUMNIELSEN K PETERSEN MB
Citation: G. Karadima et al., ORIGIN OF NONDISJUNCTION IN TRISOMY-8 AND TRISOMY-8 MOSAICISM, European journal of human genetics, 6(5), 1998, pp. 432-438
DETECTION OF A CONCOMITANT DISTAL DELETION IN AN INVERTED DUPLICATIONOF CHROMOSOME-3 - IS THERE AN OVERALL MECHANISM FOR THE ORIGIN OF SUCH DUPLICATIONS DEFICIENCIES/
Authors: JENDERNY J POETSCH M HOELTZENBEIN M FRIEDRICH U JAUCH A
Citation: J. Jenderny et al., DETECTION OF A CONCOMITANT DISTAL DELETION IN AN INVERTED DUPLICATIONOF CHROMOSOME-3 - IS THERE AN OVERALL MECHANISM FOR THE ORIGIN OF SUCH DUPLICATIONS DEFICIENCIES/, European journal of human genetics, 6(5), 1998, pp. 439-444
GUIDELINES AND CARE PATHWAYS FOR GENETIC-DISEASES - THE SCOTTISH COLLABORATIVE PROJECT ON TUBEROUS SCLEROSIS
Authors: BRADSHAW N BREWER C FITZPATRICK D MURRAY G RODGERS F PORTEOUS M CAMPBELL H
Citation: N. Bradshaw et al., GUIDELINES AND CARE PATHWAYS FOR GENETIC-DISEASES - THE SCOTTISH COLLABORATIVE PROJECT ON TUBEROUS SCLEROSIS, European journal of human genetics, 6(5), 1998, pp. 445-458
UHX1 AND PCTK1 - PRECISE CHARACTERIZATION AND LOCALIZATION WITHIN A GENE-RICH REGION IN XP11.23 AND EVALUATION AS CANDIDATE GENES FOR RETINAL DISEASES MAPPED TO XP21.1-P11.2
Authors: BRANDAU O NYAKATURA G JEDELE KB PLATZER M ACHATZ H ROSS M MURKEN J ROSENTHAL A MEINDL A
Citation: O. Brandau et al., UHX1 AND PCTK1 - PRECISE CHARACTERIZATION AND LOCALIZATION WITHIN A GENE-RICH REGION IN XP11.23 AND EVALUATION AS CANDIDATE GENES FOR RETINAL DISEASES MAPPED TO XP21.1-P11.2, European journal of human genetics, 6(5), 1998, pp. 459-466
CORRELATION OF SMNT AND SMNC GENE COPY NUMBER WITH AGE-OF-ONSET AND SURVIVAL IN SPINAL MUSCULAR-ATROPHY
Authors: TAYLOR JE THOMAS NH LEWIS CM ABBS SJ RODRIGUES NR DAVIES KE MATHEW CG
Citation: Je. Taylor et al., CORRELATION OF SMNT AND SMNC GENE COPY NUMBER WITH AGE-OF-ONSET AND SURVIVAL IN SPINAL MUSCULAR-ATROPHY, European journal of human genetics, 6(5), 1998, pp. 467-474
GENERATION OF A TRANSCRIPTION MAP DISTAL TO HLA-F
Authors: GOLDWURM S VANDERGRIEND BFH BANYER JL CULLEN LM ZOURNAZI A MENZIES ML BUSFIELD F LITTLE PFR JAZWINSKA EC
Citation: S. Goldwurm et al., GENERATION OF A TRANSCRIPTION MAP DISTAL TO HLA-F, European journal of human genetics, 6(5), 1998, pp. 475-486
HAPLOTYPE AND MUTATION ANALYSIS IN GREEK PATIENTS WITH WILSON-DISEASE
Authors: LOUDIANOS G DESSI V LOVICU M ANGIUS A KANAVAKIS E TZETIS M KATTAMIS C MANOLAKI N VASSILIKI G KARPATHIOS T CAO A PIRASTU M
Citation: G. Loudianos et al., HAPLOTYPE AND MUTATION ANALYSIS IN GREEK PATIENTS WITH WILSON-DISEASE, European journal of human genetics, 6(5), 1998, pp. 487-491
HOMOLOGOUS NONALLELIC RECOMBINATIONS BETWEEN THE IDURONATE-SULFATASE GENE AND PSEUDOGENE CAUSE VARIOUS INTRAGENIC DELETIONS AND INVERSIONS IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II
Authors: BUNGE S RATHMANN M STEGLICH C BONDESON ML TYLKISZYMANSKA A POPOWSKA E GAL A
Citation: S. Bunge et al., HOMOLOGOUS NONALLELIC RECOMBINATIONS BETWEEN THE IDURONATE-SULFATASE GENE AND PSEUDOGENE CAUSE VARIOUS INTRAGENIC DELETIONS AND INVERSIONS IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II, European journal of human genetics, 6(5), 1998, pp. 492-500
LOCALIZATION OF A FANCONI-ANEMIA GENE TO CHROMOSOME 9P
Authors: SAAR K SCHINDLER D WEGNER RD REIS A WIENKER TF HOEHN H JOENJE H SPERLING K DIGWEED M
Citation: K. Saar et al., LOCALIZATION OF A FANCONI-ANEMIA GENE TO CHROMOSOME 9P, European journal of human genetics, 6(5), 1998, pp. 501-508
A NEW CANDIDATE REGION FOR THE POSITIONAL CLONING OF THE XLP GENE
Authors: BOLINO A YIN L SERI M CUSANO R CINTI R COFFEY A BROOKSBANK R HOWELL G BENTLEY D DAVIS JR LANYI A HUANG DL STARK M CREAVEN M BJORKHAUG L HEITZMANN F LAMARTINE J GAUDI S SYLLA BS LENOIR GM CASTAGNOLA E GIACCHINO R PORTA G FRANCO B ZOLLO M SUMEGI J ROMEO G
Citation: A. Bolino et al., A NEW CANDIDATE REGION FOR THE POSITIONAL CLONING OF THE XLP GENE, European journal of human genetics, 6(5), 1998, pp. 509-517
ANALYSIS OF FMR1 AND FLANKING MICROSATELLITE MARKERS IN NORMAL AND FRAGILE-X CHROMOSOMES IN PORTUGAL - EVIDENCE FOR A PROTECTOR HAPLOTYPE
Authors: PEIXOTO A DOSSANTOS MR SERUCA R AMORIM A CASTEDO S
Citation: A. Peixoto et al., ANALYSIS OF FMR1 AND FLANKING MICROSATELLITE MARKERS IN NORMAL AND FRAGILE-X CHROMOSOMES IN PORTUGAL - EVIDENCE FOR A PROTECTOR HAPLOTYPE, European journal of human genetics, 6(5), 1998, pp. 518-522
A 6P22 REFERENCE MAP OF LEUKOCYTE DNA - EXCLUSION OF REARRANGEMENT IN4 CASES OF ATYPICAL HEMOCHROMATOSIS
Authors: WALLACE DF PARTRIDGE J ROBERTSON A SIMPSON VMA WORWOOD M BOMFORD AB VOLZ A ZIEGLER A DOOLEY JS WALKER AP
Citation: Df. Wallace et al., A 6P22 REFERENCE MAP OF LEUKOCYTE DNA - EXCLUSION OF REARRANGEMENT IN4 CASES OF ATYPICAL HEMOCHROMATOSIS, European journal of human genetics, 6(5), 1998, pp. 523-526
AUTOSOMAL RECESSIVE RETINAL DYSTROPHY ASSOCIATED WITH 2 NOVEL MUTATIONS IN THE RPE65 GENE
Authors: MARLHENS F GRIFFOIN JM BAREIL C ARNAUD B CLAUSTRES M HAMEL CP
Citation: F. Marlhens et al., AUTOSOMAL RECESSIVE RETINAL DYSTROPHY ASSOCIATED WITH 2 NOVEL MUTATIONS IN THE RPE65 GENE, European journal of human genetics, 6(5), 1998, pp. 527-531
TRANSIENT NEONATAL DIABETES-MELLITUS IN A CHILD WITH INUDUP(6)(Q22Q23) OF PATERNAL ORIGIN (VOL 5, PG 417, 1998)
Authors: EIDELMAN AI
Citation: Ai. Eidelman, TRANSIENT NEONATAL DIABETES-MELLITUS IN A CHILD WITH INUDUP(6)(Q22Q23) OF PATERNAL ORIGIN (VOL 5, PG 417, 1998), European journal of human genetics, 6(5), 1998, pp. 532-532
HUMAN EGFR, A CANDIDATE GENE FOR THE SILVER-RUSSELL-SYNDROME, IS BIALLELICALLY EXPRESSED IN A WIDE-RANGE OF FETAL TISSUES - (VOL 6, PG 158,1998)
Authors: WAKELING EL ABUAMERO SN STANIER P PREECE MA MOORE GE
Citation: El. Wakeling et al., HUMAN EGFR, A CANDIDATE GENE FOR THE SILVER-RUSSELL-SYNDROME, IS BIALLELICALLY EXPRESSED IN A WIDE-RANGE OF FETAL TISSUES - (VOL 6, PG 158,1998), European journal of human genetics, 6(5), 1998, pp. 532-532
JEANS FOR GENES (VOL 6, PG 413, 1998)
Authors: POERTMAN Y
Citation: Y. Poertman, JEANS FOR GENES (VOL 6, PG 413, 1998), European journal of human genetics, 6(5), 1998, pp. 532-532
MIGRAINE, ATAXIA AND EPILEPSY - A CHALLENGING SPECTRUM OF GENETICALLY-DETERMINED CALCIUM CHANNELOPATHIES
Authors: TERWINDT GM OPHOFF RA HAAN J SANDKUIJL LA FRANTS RR FERRARI MD
Citation: Gm. Terwindt et al., MIGRAINE, ATAXIA AND EPILEPSY - A CHALLENGING SPECTRUM OF GENETICALLY-DETERMINED CALCIUM CHANNELOPATHIES, European journal of human genetics, 6(4), 1998, pp. 297-307
IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA
Authors: MORNET E TAILLANDIER A PEYRAMAURE S KAPER F MULLER F BRENNER R BUSSIERE P FREISINGER P GODARD J LEMERRER M OURY JF PLAUCHU H PUDDU R RIVAL JM SUPERTIFURGA A TOURAINE RL SERRE JL SIMONBOUY B
Citation: E. Mornet et al., IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA, European journal of human genetics, 6(4), 1998, pp. 308-314
GENETIC DIVERSITY IN NORTHERN SPAIN (BASQUE COUNTRY AND CANTABRIA) - GM AND KM VARIATION RELATED TO DEMOGRAPHIC HISTORIES
Authors: ESTEBAN E DUGOUJON JM GUITARD E SENEGAS MT MANZANO C DELARUA C VALVENY N MORAL P
Citation: E. Esteban et al., GENETIC DIVERSITY IN NORTHERN SPAIN (BASQUE COUNTRY AND CANTABRIA) - GM AND KM VARIATION RELATED TO DEMOGRAPHIC HISTORIES, European journal of human genetics, 6(4), 1998, pp. 315-324
GENOMIC ORGANIZATION OF THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY
Authors: LAPORTE J GUIRAUDCHAUMEIL C TANNER SM BLONDEAU F HU LJ VICAIRE S LIECHTIGALLATI S MANDEL JL
Citation: J. Laporte et al., GENOMIC ORGANIZATION OF THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY, European journal of human genetics, 6(4), 1998, pp. 325-330
ABSENCE OF HOMOZYGOSITY FOR PREDOMINANT MUTATIONS IN PMM2 IN DANISH PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1
Authors: KJAERGAARD S SKOVBY F SCHWARTZ M
Citation: S. Kjaergaard et al., ABSENCE OF HOMOZYGOSITY FOR PREDOMINANT MUTATIONS IN PMM2 IN DANISH PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1, European journal of human genetics, 6(4), 1998, pp. 331-336
ISOLATION OF A NOVEL HUMAN VOLTAGE-DEPENDENT ANION CHANNEL GENE
Authors: RAHMANI Z MAUNOURY C SIDDIQUI A
Citation: Z. Rahmani et al., ISOLATION OF A NOVEL HUMAN VOLTAGE-DEPENDENT ANION CHANNEL GENE, European journal of human genetics, 6(4), 1998, pp. 337-340
A 2ND MIDDLE-EASTERN KINDRED WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING-LOSS SEGREGATES DFNB9
Authors: LEAL SM APAYDIN F BARNWELL C IBER M KANDOGAN T PFISTER M BRAENDLE U CURA O SCHWALB M ZENNER HP VITALE E
Citation: Sm. Leal et al., A 2ND MIDDLE-EASTERN KINDRED WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING-LOSS SEGREGATES DFNB9, European journal of human genetics, 6(4), 1998, pp. 341-344
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