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Results: 1-25/34
Authors:
SILANDER K
MERETOJA P
JUVONEN V
IGNATIUS J
PIHKO H
SAARINEN A
WALLDEN T
HERRGARD E
AULA P
SAVONTAUS ML
Citation: K. Silander et al., SPECTRUM OF MUTATIONS IN FINNISH PATIENTS WITH CHARCOT-MARIE-TOOTH-DISEASE AND RELATED NEUROPATHIES, Human mutation, 12(1), 1998, pp. 59-68
Authors:
JALLINOJA P
HAKONEN A
ARO AR
NIEMELA P
HIETALA M
LONNQVIST J
PELTONEN L
AULA P
Citation: P. Jallinoja et al., ATTITUDES TOWARDS GENETIC TESTING - ANALYSIS OF CONTRADICTIONS, Social science & medicine, 46(10), 1998, pp. 1367-1374
Authors:
JUVONEN V
NIKOSKELAINEN E
LAMMINEN T
PENTTINEN M
AULA P
SAVONTAUS ML
Citation: V. Juvonen et al., TISSUE DISTRIBUTION OF THE ND4 11778 MUTATION IN HETEROPLASMIC LINEAGES WITH LEBER HEREDITARY OPTIC NEUROPATHY/, Human mutation, 9(5), 1997, pp. 412-417
Authors:
LAMMINEN T
HUOPONEN K
SISTONEN P
JUVONEN V
LAHERMO P
AULA P
NIKOSKELAINEN E
SAVONTAUS ML
Citation: T. Lamminen et al., MTDNA HAPLOTYPE ANALYSIS IN FINNISH FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY, European journal of human genetics, 5(5), 1997, pp. 271-279
Authors:
MERETOJA P
SILANDER K
KALIMO H
AULA P
MERETOJA A
SAVONTAUS ML
Citation: P. Meretoja et al., EPIDEMIOLOGY OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) IN SOUTH WESTERN FINLAND, Neuromuscular disorders, 7(8), 1997, pp. 529-532
Authors:
ARO AR
HAKONEN A
HIETALA M
LONNQVIST J
NIEMELA P
PELTONEN L
AULA P
Citation: Ar. Aro et al., ACCEPTANCE OF GENETIC TESTING IN A GENERAL-POPULATION - AGE, EDUCATION AND GENDER DIFFERENCES, Patient education and counseling, 32(1-2), 1997, pp. 41-49
Authors:
SILANDER K
MERETOJA P
PIHKO H
JUVONEN V
ISSAKAINEN J
AULA P
SAVONTAUS ML
Citation: K. Silander et al., SCREENING FOR CONNEXIN-32 MUTATIONS IN CHARCOT-MARIE-TOOTH-DISEASE FAMILIES WITH POSSIBLE X-LINKED INHERITANCE, Human genetics, 100(3-4), 1997, pp. 391-397
Authors:
LAUTEALA T
HORELLIKUITUNEN N
CLOSS E
SAVONTAUS ML
LUKKARINEN M
SIMELL O
CUNNINGHAM J
PALOTIE A
AULA P
Citation: T. Lauteala et al., HUMAN CATIONIC AMINO-ACID TRANSPORTER GENE HCAT-2 IS ASSIGNED TO 8P22BUT IS NOT THE CAUSATIVE GENE IN LYSINURIC PROTEIN INTOLERANCE, Human genetics, 100(1), 1997, pp. 80-83
Authors:
PENTTINEN M
NIEMI KM
VINKKAPUHAKKA H
JOHANSSON R
AULA P
Citation: M. Penttinen et al., NEW PROGEROID DISORDER, American journal of medical genetics, 69(2), 1997, pp. 182-187
Authors:
MANNIKKO M
KESTILA M
LENKKERI U
ALAKURTTI H
HOLMBERG C
LEISTI J
SALONEN R
AULA P
MUSTONEN A
PELTONEN L
TRYGGVASON K
Citation: M. Mannikko et al., IMPROVED PRENATAL-DIAGNOSIS OF THE CONGENITAL NEPHROTIC SYNDROME OF THE FINNISH TYPE BASED ON DNA ANALYSIS, Kidney international, 51(3), 1997, pp. 868-872
Authors:
MAJANDER A
LAMMINEN T
JUVONEN V
AULA P
NIKOSKELAINEN E
SAVONTAUS ML
WIKSTROM M
Citation: A. Majander et al., MUTATIONS IN SUBUNIT-6 OF THE F1F0-ATP SYNTHASE CAUSE 2 ENTIRELY DIFFERENT DISEASES, FEBS letters, 412(2), 1997, pp. 351-354
Authors:
LAITINEN A
HIETALA M
HAWORTH JC
SCHROEDER ML
SEARGEANT LE
GREENBERG R
AULA P
Citation: A. Laitinen et al., 2 NOVEL MUTATIONS IN A CANADIAN FAMILY WITH ASPARTYLGLUCOSAMINURIA AND EARLY OUTCOME POST BONE-MARROW TRANSPLANTATION, Clinical genetics, 51(3), 1997, pp. 174-178
Authors:
LAUTEALA T
SISTONEN P
SAVONTAUS ML
MYKKANEN J
SIMELL J
LUKKARINEN M
SIMELL O
AULA P
Citation: T. Lauteala et al., LYSINURIC PROTEIN INTOLERANCE (LPI) GENE MAPS TO THE LONG ARM OF CHROMOSOME-14, American journal of human genetics, 60(6), 1997, pp. 1479-1486
Authors:
SILANDER K
MERETOJA P
NELIS E
TIMMERMAN V
VANBROECKHOVEN C
AULA P
SAVONTAUS ML
Citation: K. Silander et al., A DE-NOVO DUPLICATION IN 17P11.2 AND A NOVEL MUTATION IN THE P-O GENEIN 2 DEJERINE-SOTTAS SYNDROME PATIENTS, Human mutation, 8(4), 1996, pp. 304-310
Authors:
LEPPANEN P
ISOSOMPPI J
SCHLEUTKER J
AULA P
PELTONEN L
Citation: P. Leppanen et al., A PHYSICAL MAP OF THE 6Q14-Q15 REGION HARBORING THE LOCUS FOR THE LYSOSOMAL MEMBRANE SIALIC-ACID TRANSPORT DEFECT, Genomics, 37(1), 1996, pp. 62-67
Authors:
SCHLEUTKER J
SISTONEN P
AULA P
Citation: J. Schleutker et al., HAPLOTYPE ANALYSIS IN PRENATAL-DIAGNOSIS AND CARRIER IDENTIFICATION OF SALLA DISEASE, Journal of Medical Genetics, 33(1), 1996, pp. 36-41
Authors:
HIETALA M
AULA P
SYVANEN AC
ISONIEMI A
PELTONEN L
PALOTIE A
Citation: M. Hietala et al., DNA-BASED CARRIER SCREENING IN PRIMARY HEALTH-CARE - SCREENING FOR ASPARTYLGLUCOSAMINURIA MUTATIONS IN MATERNITY HEALTH OFFICES, Clinical chemistry, 42(9), 1996, pp. 1398-1404
Authors:
LAHERMO P
SAJANTILA A
SISTONEN P
LUKKA M
AULA P
PELTONEN L
SAVONTAUS ML
Citation: P. Lahermo et al., THE GENETIC-RELATIONSHIP BETWEEN THE FINNS AND THE FINNISH SAAMI (LAPPS) - ANALYSIS OF NUCLEAR-DNA AND MTDNA, American journal of human genetics, 58(6), 1996, pp. 1309-1322
Authors:
ISONIEMI A
HIETALA M
AULA P
JALANKO A
PELTONEN L
Citation: A. Isoniemi et al., IDENTIFICATION OF A NOVEL MUTATION CAUSING ASPARTYLGLUCOSAMINURIA REVEALS A MUTATION HOTSPOT REGION IN THE ASPARTYLGLUCOSAMINIDASE GENE, Human mutation, 5(4), 1995, pp. 318-326
Authors:
SAJANTILA A
LAHERMO P
ANTTINEN T
LUKKA M
SISTONEN P
SAVONTAUS ML
AULA P
BECKMAN L
TRANEBJAERG L
GEDDEDAHL T
ISSELTARVER L
DIRIENZO A
PAABO S
Citation: A. Sajantila et al., GENES AND LANGUAGES IN EUROPE - AN ANALYSIS OF MITOCHONDRIAL LINEAGES, PCR methods and applications, 5(1), 1995, pp. 42-52
Authors:
SCHLEUTKER J
LAINE AP
HAATAJA L
RENLUND M
WEISSENBACH J
AULA P
PELTONEN L
Citation: J. Schleutker et al., LINKAGE DISEQUILIBRIUM UTILIZED TO ESTABLISH A REFINED GENETIC POSITION OF THE SALLA DISEASE LOCUS ON 6Q14-Q15, Genomics, 27(2), 1995, pp. 286-292
Authors:
LAAN M
GRONVIRTA K
SALO A
AULA P
PELTONEN L
PALOTIE A
SYVANEN AC
Citation: M. Laan et al., SOLID-PHASE MINISEQUENCING CONFIRMED BY FISH ANALYSIS IN DETERMINATION OF GENE COPY NUMBER, Human genetics, 96(3), 1995, pp. 275-280
Authors:
GREENBERG CR
HAWORTH JC
SEARGEANT LE
DILLING LA
LAITINEN A
HIETALA M
AULA P
Citation: Cr. Greenberg et al., 2 NEW MUTATIONS IN THE ASPARTYLGLUCOSAMINIDASE (AGA) GENE CAUSING ASPARTYLGLUCOSAMINURIA (AGU), Pediatric research, 37(4), 1995, pp. 149-149
Authors:
HIETALA M
HAKONEN A
ARO AR
LONNQVIST J
NIEMELA P
PALOTIE A
PELTONEN L
AULA P
Citation: M. Hietala et al., CARRIER SCREENING FOR ASPARTYLGLUCOSAMINURIA IN FINLAND - A PILOT-STUDY AMONG PREGNANT-WOMEN, American journal of human genetics, 57(4), 1995, pp. 1720-1720
Authors:
SCHLEUTKER J
LEPPANEN P
MANSSON JE
ERIKSON A
WEISSENBACH J
PELTONEN L
AULA P
Citation: J. Schleutker et al., LYSOSOMAL FREE SIALIC-ACID STORAGE DISORDERS WITH DIFFERENT PHENOTYPIC PRESENTATIONS - INFANTILE-FORM SIALIC-ACID STORAGE DISEASE AND SALLADISEASE - REPRESENT ALLELIC DISORDERS ON 6Q14-15, American journal of human genetics, 57(4), 1995, pp. 893-901