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    1. Ikeda, T; Mabuchi, A; Fukuda, A; Hiraoka, H; Kawakami, A; Yamamoto, S; Machida, H; Takatori, Y; Kawaguchi, H; Nakamura, K; Ikegawa, S
      Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis

      JOURNAL OF HUMAN GENETICS
    2. Turecki, G; Zhu, Z; Tzenova, J; Lesage, A; Seguin, M; Tousignant, M; Chawky, N; Vanier, C; Lipp, O; Alda, M; Joober, R; Benkelfat, C; Rouleau, GA
      TPH and suicidal behavior: a study in suicide completers

      MOLECULAR PSYCHIATRY
    3. Hohjoh, H; Terada, N; Miki, T; Honda, Y; Tokunaga, K
      Haplotype analyses with the human leucocyte antigen and tumour necrosis factor-alpha genes in narcolepsy families

      PSYCHIATRY AND CLINICAL NEUROSCIENCES
    4. Pesch, K; Tomiuk, J; Broghammer, M; Zrenner, E; Apfelstedt-Sylla, E; Jacobi, FK; Wissinger, B; Pusch, CM
      Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    5. Ennis, S; Murray, A; Morton, NE
      Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?

      HUMAN MUTATION
    6. Zwaenepoel, I; Verpy, E; Blanchard, S; Meins, M; Apfelstedt-Sylla, E; Gal, A; Petit, C
      Identification of three novel mutations in the USH1C gene and detection ofthirty-one polymorphisms used for haplotype analysis

      HUMAN MUTATION
    7. Malysheva, OV; Ivaschenko, TE; Baranov, VS
      Population and family studies of the CAG repeats in the IT-15 gene

      RUSSIAN JOURNAL OF GENETICS
    8. Lund, A; Udd, B; Juvonen, V; Andersen, PM; Cederquist, K; Davis, M; Gellera, C; Kolmel, C; Ronnevi, LO; Sperfeld, AD; Sorensen, SA; Tranebjaerg, L; Van Maldergem, L; Watanabe, M; Weber, M; Yeung, L; Savontaus, ML
      Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. Verpillat, P; Bouley, S; Campion, D; Hannequin, D; Dubois, B; Belliard, S; Puel, M; Thomas-Anterion, C; Agid, Y; Brice, A; Clerget-Darpoux, F
      Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. Lazzeroni, LC
      A chronology of fine-scale gene mapping by linkage disequilibrium

      STATISTICAL METHODS IN MEDICAL RESEARCH
    11. Vrablik, M; Ceska, R; Horinek, A
      Major apolipoprotein B-100 mutations in lipoprotein metabolism and atherosclerosis

      PHYSIOLOGICAL RESEARCH
    12. Barton, A; Chapman, P; Myerscough, A; Pinel, T; Davies, N; Worthington, J; John, S
      The single-nucleotide polymorphism lottery: How useful are a few common SNPs in identifying disease-associated alleles?

      GENETIC EPIDEMIOLOGY
    13. Saunders, CL; Crockford, GP; Bishop, DT; Barrett, JH
      Using single nucleotide, polymorphisms to investigate association between a candidate gene and disease

      GENETIC EPIDEMIOLOGY
    14. Bitti, PP; Murgia, BS; Ticca, A; Ferrai, R; Musu, L; Piras, ML; Puledda, E; Campo, S; Durando, S; Montomoli, C; Clayton, DG; Mander, AP; Bernardinelli, L
      Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in Central Sardinia

      GENETIC EPIDEMIOLOGY
    15. Alvarez, S; Mesa, MS; Bandres, F; Arroyo, E
      C282Y and H63D mutation frequencies in a population from central Spain

      DISEASE MARKERS
    16. Judge, DP; Biery, NJ; Dietz, HC
      Characterization of microsatellite markers flanking FBN1: Utility in the diagnostic evaluation for Marfan syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    17. Levinson, DF; Kirby, A; Slepner, S; Nolte, I; Spijker, GT; te Meerman, G
      Simulation studies of detection of a complex disease in a partially isolated population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    18. Chabas, A; Montfort, M; Martinez-Campos, M; Diaz, A; Coll, MJ; Grinberg, D; Vilageliu, L
      Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: Possible single origin for 1091delC mutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Lee, SH; Gitas, J; Zafer, A; Lepage, P; Hudson, TJ; Belouchi, A; Vidal, SM
      Haplotype mapping indicates two independent origins for the Cmv1(s) susceptibility allele to cytomegalovirus infection and refines its localization within the Ly49 cluster

      IMMUNOGENETICS
    20. Manco, L; Oliveira, AL; Gomes, C; Granjo, A; Trovoada, MD; Ribeiro, ML; Abade, A; Amorim, A
      Population genetics of four PKLR intragenic polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea)

      HUMAN BIOLOGY
    21. Goldman, A; Labrum, R; Claustres, M; Desgeorges, M; Guittard, C; Wallace, A; Ramsay, M
      The molecular basis of cystic fibrosis in South Africa

      CLINICAL GENETICS
    22. Kyle, RA
      Amyloidosis: A convoluted story

      BRITISH JOURNAL OF HAEMATOLOGY
    23. Hirotsu, C; Aoki, S; Inada, T; Kitao, Y
      An exact test for the association between the disease and alleles at highly polymorphic loci with particular interest in the haplotype analysis

      BIOMETRICS
    24. Mateu, E; Calafell, F; Lao, O; Bonne-Tamir, B; Kidd, JR; Pakstis, A; Kidd, KK; Bertranpetit, J
      Worldwide genetic analysis of the CFTR region

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. Slatkin, M; Rannala, B
      Estimating allele age

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    26. Nauck, M; Wieland, H; Marz, W
      Evaluation of the Roche diagnostics LightCycler-Apo B 3500 mutation detection kit

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    27. Lee, CC; Wu, JY; Tsai, FJ; Kodama, H; Abe, T; Yang, CF; Tsai, CH
      Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association

      JOURNAL OF HUMAN GENETICS
    28. Plante-Bordeneuve, V; Said, G
      Transthyretin related familial amyloid polyneuropathy

      CURRENT OPINION IN NEUROLOGY
    29. Rabes, JP; Varret, M; Devillers, M; Aegerter, P; Villeger, L; Krempf, M; Junien, C; Boileau, C
      R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    30. Salomon, R; Gubler, MC; Niaudet, P
      Genetics of the nephrotic syndrome

      CURRENT OPINION IN PEDIATRICS
    31. Lund, A; Udd, B; Juvonen, V; Andersen, PM; Cederquist, K; Ronnevi, LO; Sistonen, P; Sorensen, SA; Tranebjaerg, L; Wallgren-Pettersson, C; Savontaus, ML
      Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    32. Cavalier, L; BenHamida, C; Amouri, R; Belal, S; Bomont, P; Lagarde, N; Gressin, L; Callen, D; Demir, E; Topaloglu, H; Landrieu, P; Ioos, C; Ben Hamida, M; Koenig, M; Hentati, F
      Giant axonal neuropathy locus refinement to a < 590 kb critical interval

      EUROPEAN JOURNAL OF HUMAN GENETICS
    33. Yamada, K; Tomita, H; Yoshiura, K; Kondo, S; Wakui, K; Fukushima, Y; Ikegawa, S; Nakamura, Y; Amemiya, T; Niikawa, N
      An autosomal dominant posterior polar cataract locus maps to human chromosome 20pl 12-q12

      EUROPEAN JOURNAL OF HUMAN GENETICS
    34. Jonasson, J; Juvonen, V; Sistonen, P; Ignatius, J; Johansson, D; Bjorck, EJ; Wahlstrom, J; Melberg, A; Holmgren, G; Forsgren, L; Holmberg, M
      Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    35. Vollmer, M; Jeck, N; Lemmink, HH; Vargas, R; Feldmann, D; Konrad, M; Beekmann, F; van den Heuvel, LPWJ; Deschenes, G; Guay-Woodford, LM; Antignac, C; Seyberth, HW; Hildebrandt, F; Knoers, NVAM
      Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    36. Kroiss, S; Huck, K; Berthold, S; Ruschendorf, F; Scolari, F; Caridi, G; Ghiggeri, GM; Hildebrant, F; Fuchshuber, A
      Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    37. Kubota, T; Dakeishi, M; Nozaki, J; Manabe, M; Koizumi, A
      Probable involvement of a germ-line mutation of an unknown mismatch repairgene in a Japanese Muir-Torre syndrome phenotype

      JOURNAL OF DERMATOLOGICAL SCIENCE
    38. Clayton, D
      Linkage disequilibrium mapping of disease susceptibility genes in human populations

      INTERNATIONAL STATISTICAL REVIEW
    39. Laudahn, BM; Gyurus, P; Orth, U; Gal, A; Nienaber, CA
      Indirect genotype analysis as a tool for diagnosis of Marfan syndrome

      ZEITSCHRIFT FUR KARDIOLOGIE
    40. Casals, T; Bassas, L; Egozcue, S; Ramos, MD; Gimenez, J; Segura, A; Garcia, F; Carrera, M; Larriba, S; Sarquella, J; Estivill, X
      Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

      HUMAN REPRODUCTION
    41. Chauve, X; Missirian, C; Malzac, P; Girardot, L; Guys, JM; Louis, C; Philip, N; Voelckel, MA
      Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family

      AMERICAN JOURNAL OF MEDICAL GENETICS
    42. Orru, S; Pintor, S; Loizedda, A; Giuressi, E; Murru, R; Casula, M; Carcassi, C; Deiana, L; Contu, L
      Familial hypercholesterolemia study in Sardinia using 6 LDLR polymorphic markers based on PCR

      AMERICAN JOURNAL OF MEDICAL GENETICS
    43. Herrmann, FH; Wulff, K; Auberger, K; Aumann, V; Bergmann, F; Bergmann, K; Bratanoff, E; Franke, D; Grundeis, M; Kreuz, W; Lenk, H; Losonczy, H; Maak, B; Marx, G; Mauz-Korholz, C; Pollmann, H; Serban, M; Sutor, A; Syrbe, G; Vogel, G; Weinstock, N; Wenzel, E; Wolf, K
      Molecular biology and clinical manifestation of hereditary factor VII deficiency

      SEMINARS IN THROMBOSIS AND HEMOSTASIS
    44. van der Slik, AR; Shing, DC; Eerligh, P; Giphart, MJ
      Subtyping for TNFa microsatellite sequence variation

      IMMUNOGENETICS
    45. Gehrig, C; Hochmeister, M; Budowle, B
      Swiss allele frequencies and haplotypes of 7 Y-specific STRs

      JOURNAL OF FORENSIC SCIENCES
    46. Ferlini, A; Obici, L; Manzati, E; Biadi, O; Tarantino, E; Conigli, P; Merlini, G; D'Alessandro, M; Mazzaferro, V; Tassinari, CA; Salvi, F
      Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel 'hot spot' in codon 47

      CLINICAL GENETICS
    47. Cavalli, SA; Hirata, MH; Salazar, LA; Diament, J; Forti, N; Giannini, SD; Nakandakare, ER; Bertolami, MC; Hirata, RDC
      Apolipoprotein B gene polymorphisms: prevalence and impact on serum lipid concentrations in hypercholesterolemic individuals from Brazil

      CLINICA CHIMICA ACTA
    48. Castaman, G; Eikenboom, JCJ; Missiaglia, E; Rodeghiero, F
      Autosomal dominant type 1 von Willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect

      BRITISH JOURNAL OF HAEMATOLOGY
    49. Zhu, XF; McKenzie, CA; Forrester, T; Nickerson, DA; Broeckel, U; Schunkert, H; Doering, A; Jacob, HJ; Cooper, RS; Rieder, MJ
      Localization of a small genomic region associated with elevated ACE

      AMERICAN JOURNAL OF HUMAN GENETICS
    50. Mukerji, M; Choudhry, S; Saleem, Q; Padma, MV; Maheshwari, MC; Jain, S
      Molecular analysis of Friedreich's ataxia locus in the Indian population

      ACTA NEUROLOGICA SCANDINAVICA
    51. Prata, MJ; Miranda, C; Rocha, J; Amorim, A
      Allelic affinities between the F13A common gene products inferred by the analysis of an (AAAG)n STR polymorphism within the 5 ' untranslated region

      HUMAN HEREDITY
    52. Zhao, JH; Curtis, D; Sham, PC
      Model-free analysis and permutation tests for allelic associations

      HUMAN HEREDITY
    53. Sewry, CA; Muntoni, F
      Inherited disorders of the extracellular matrix

      CURRENT OPINION IN NEUROLOGY
    54. Peterson, RJ; Goldman, D; Long, JC
      Effects of worldwide population subdivision on ALDH2 linkage disequilibrium

      GENOME RESEARCH
    55. Hung, J; Mims, B; Lozano, G; Strong, L; Harvey, C; Chen, TTY; Stastny, V; Tomlinson, G
      TP53 mutation and haplotype analysis of two large African American families

      HUMAN MUTATION
    56. Rozzo, C; Fossarello, M; Galleri, G; Miano, MG; Ciccodicola, A; Sole, G; Pirastu, M
      Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family

      EUROPEAN JOURNAL OF HUMAN GENETICS
    57. Verheyen, GR; Villafuerte, SM; Del-Favero, J; Souery, D; Mendlewicz, J; Van Broeckhoven, C; Raeymaekers, P
      Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder

      EUROPEAN JOURNAL OF HUMAN GENETICS
    58. Maciel, P; Gasper, C; Guimaraes, L; Goto, J; Lopez-Cendes, I; Hayes, S; Arvidsson, K; Dias, A; Sequeiros, J; Sousa, A; Rouleau, GA
      Study of three intragenic polymorphisms in the Machado-Joseph disease gene(MJD1) in relation to genetic instability of the (CAG)(n) tract

      EUROPEAN JOURNAL OF HUMAN GENETICS
    59. McClean, E; Graham, CA; Ward, AJ; Young, IS; Martin, S; Nicholls, DP
      Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland

      BRITISH JOURNAL OF BIOMEDICAL SCIENCE
    60. Sato, T; Oyake, M; Nakamura, K; Nakao, K; Fukusima, Y; Onodera, O; Igarashi, S; Takano, H; Kikugawa, K; Ishida, Y; Shimohata, T; Koide, R; Ikeuchi, T; Tanaka, H; Futamura, N; Matsumura, R; Takayanagi, T; Tanaka, F; Sobue, G; Komure, O; Takahashi, M; Sano, A; Ichikawa, Y; Goto, J; Kanazawa, I; Katsuki, M; Tsuji, S
      Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients

      HUMAN MOLECULAR GENETICS
    61. Furedi, S; Woller, J; Padar, Z; Angyal, M
      Y-STR haplotyping in two Hungarian populations

      INTERNATIONAL JOURNAL OF LEGAL MEDICINE
    62. Bost, M; Lachaux, A; Accominotti, M; Vandenberghe, A
      Mutation screening and genotype-phenotype correlation in 32 families with Wilson disease

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    63. Ashton-Prolla, P; Ashley, GA; Giugliani, R; Pires, RF; Desnick, RJ; Eng, CM
      Fabry disease: Comparison of enzymatic, linkage, and mutation analysis forcarrier detection in a family with a novel mutation (30delG)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    64. Pekarik, V; Blazkova, M; Kozak, L
      Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic

      AMERICAN JOURNAL OF MEDICAL GENETICS
    65. Alberto, FL; Figueiredo, MS; Zago, MA; Araujo, AG; Dos-Santos, JE
      The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil

      BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
    66. Seddigh, S; Dahmen, N; Goebel, HH; Hopf, HC; Benson, MD
      Indication of a common origin of German and American families with Familial Amyloidneuropathy Type II

      NERVENARZT
    67. Pullinger, CR; Gaffney, D; Gutierrez, MM; Malloy, MJ; Schumaker, VN; Packard, CJ; Kane, JP
      The apolipoprotein B R3531C mutation: characteristics of 24 subjects from 9 kindreds

      JOURNAL OF LIPID RESEARCH
    68. Wang, XH; Yang, L; Kurtz, L; Lichtin, A; DeLeo, VA; Bloomer, J; Poh-Fitzpatrick, MB
      Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    69. Seixas, S; Trovoada, MJ; Rocha, J
      Haplotype analysis of the apolipoprotein E and apolipoprotein C1 loci in Portugal and Sao Tome e Principe (Gulf of Guinea): Linkage disequilibrium evidence that APOE*4 is the ancestral APOE allele

      HUMAN BIOLOGY
    70. Pulleyn, LJ; Winter, RM; Reardon, W; McKeown, C; Jones, B; Hayward, R; Evans, R; Malcolm, S
      Further evidence from two families that craniofrontonasal dysplasia maps to Xp22

      CLINICAL GENETICS
    71. Bagnall, RD; Waseem, NH; Green, PM; Colvin, B; Lee, C; Giannelli, F
      Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients

      BRITISH JOURNAL OF HAEMATOLOGY
    72. El-Maarri, O; Oldenburg, J; Caglayan, SH
      Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene

      BRITISH JOURNAL OF HAEMATOLOGY
    73. Savage, JM; Jefferson, JA; Maxwell, AP; Hughes, AE; Shanks, JH; Gill, D
      Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families

      ARCHIVES OF DISEASE IN CHILDHOOD
    74. Parra, E; Shriver, MD; Soemantri, A; McGarvey, ST; Hundrieser, J; Saha, N; Deka, R
      Analysis of five Y-specific microsatellite loci in Asian and Pacific populations

      AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY
    75. Bolk, S; Puffenberger, EG; Hudson, J; Morton, DH; Chakravarti, A
      Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the Old Order Mennonites

      AMERICAN JOURNAL OF HUMAN GENETICS
    76. Redd, AJ; Stoneking, M
      Peopling of Sahul: mtDNA variation in Aboriginal Australian and Papua New Guinean populations

      AMERICAN JOURNAL OF HUMAN GENETICS
    77. Lenkkeri, U; Mannikko, M; McCready, P; Lamerdin, J; Gribouval, O; Niaudet, P; Antignac, C; Kashtan, CE; Holmberg, C; Olsen, A; Kestila, M; Tryggvason, K
      Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations

      AMERICAN JOURNAL OF HUMAN GENETICS
    78. Atac, FB; Elibol, B; Schaefer, F
      The genetic analysis of Turkish patients with Huntington's disease

      ACTA NEUROLOGICA SCANDINAVICA
    79. FUJIMOTO M; KANTAPUTRA PN; IKEGAWA S; FUKUSHIMA Y; SONTA S; MATSUO M; ISHIDA T; MATSUMOTO T; KONDO S; TOMITA H; DENG HX; DURSO M; RINALDI MM; VENTRUTO V; TAKAGI T; NAKAMURA Y; NIIKAWA N
      THE GENE FOR MESOMELIC DYSPLASIA KANTAPUTRA TYPE IS MAPPED TO CHROMOSOME 2Q24-Q32

      JOURNAL OF HUMAN GENETICS
    80. Arnell, H; Mantyjarvi, M; Tuppurainen, K; Andreasson, S; Dahl, N
      Stargardt disease: Linkage to the ABCR gene region on 1p21-p22 in Scandinavian families

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    81. ZOLYOMI Z; BENSON MD; HALASZ K; UEMICHI T; FEKETE G
      TRANSTHYRETIN MUTATION (SERINE-84) ASSOCIATED WITH FAMILIAL AMYLOID POLYNEUROPATHY IN A HUNGARIAN FAMILY

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    82. MOUNTAIN JL
      MOLECULAR EVOLUTION AND MODERN HUMAN ORIGINS

      Evolutionary anthropology
    83. KALINSKY H; FUNES A; ZELDIN A; PELOR Y; KOROSTISHEVSKY M; GERSHONIBARUCH R; FARRER LA; BONNETAMIR B
      NOVEL ATP7B MUTATIONS CAUSING WILSON-DISEASE IN SEVERAL ISRAELI ETHNIC-GROUPS

      Human mutation
    84. LOUDIANOS G; DESSI V; LOVICU M; ANGIUS A; KANAVAKIS E; TZETIS M; KATTAMIS C; MANOLAKI N; VASSILIKI G; KARPATHIOS T; CAO A; PIRASTU M
      HAPLOTYPE AND MUTATION ANALYSIS IN GREEK PATIENTS WITH WILSON-DISEASE

      European journal of human genetics
    85. BYRNE PC; WEBB S; MCSWEENEY F; BURKE T; HUTCHINSON M; PARFREY NA
      LINKAGE OF AD HSP AND COGNITIVE IMPAIRMENT TO CHROMOSOME 2P - HAPLOTYPE AND PHENOTYPE ANALYSIS INDICATES VARIABLE EXPRESSION AND LOW OR DELAYED PENETRANCE

      European journal of human genetics
    86. Lauteala, T; Mykkanen, J; Sperandeo, MP; Gasparini, P; Savontaus, ML; Simell, O; Andria, G; Sebastio, G; Aula, P
      Genetic homogeneity of lysinuric protein intolerance

      EUROPEAN JOURNAL OF HUMAN GENETICS
    87. GREWAL RP; CANTOR R; TURNER G; GREWAL RK; DETERAWADLEIGH SD
      GENETIC-MAPPING AND HAPLOTYPE ANALYSIS OF OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

      NeuroReport
    88. Terwilliger, JD; Weiss, KM
      Linkage disequilibrium mapping of complex disease: fantasy or reality?

      CURRENT OPINION IN BIOTECHNOLOGY
    89. YOSHIMATSU SI; ANDO Y; TERAZAKI H; SAKASHITA N; TADA S; YAMASHITA T; SUGA M; UCHINO M; ANDO M
      ENDOSCOPIC AND PATHOLOGICAL MANIFESTATIONS OF THE GASTROINTESTINAL-TRACT IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY TYPE-I (MET30)

      Journal of internal medicine
    90. FLAVIGNY J; RICHARD P; ISNARD R; CARRIER L; CHARRON P; BONNE G; FORISSIER JF; DESNOS M; DUBOURG O; KOMAJDA M; SCHWARTZ K; HAINQUE B
      IDENTIFICATION OF 2 NOVEL MUTATIONS IN THE VENTRICULAR REGULATORY MYOSIN LIGHT-CHAIN GENE (MYL2) ASSOCIATED WITH FAMILIAL AND CLASSICAL FORMS OF HYPERTROPHIC CARDIOMYOPATHY

      Journal of molecular medicine
    91. LESSIG R; EDELMANN J
      Y-CHROMOSOME POLYMORPHISMS AND HAPLOTYPES IN WEST SAXONY (GERMANY)

      International journal of legal medicine
    92. FUCHSHUBER A; DELTAS CC; BERTHOLD S; STAVROU C; VOLLMER M; BURTON C; FEEST T; KRIETER D; GAL A; BRANDIS M; PIERIDES A; HILDEBRANDT F
      AUTOSOMAL-DOMINANT MEDULLARY CYSTIC KIDNEY-DISEASE - EVIDENCE OF GENELOCUS HETEROGENEITY

      Nephrology, dialysis, transplantation
    93. KOTZE MJ; DEVILLIERS JNP; GROENEWALD JZ; ROONEY RN; LOUBSER O; THIART R; OOSTHUIZEN CJJ; VANNIEKERK MM; GROENEWALD IM; RETIEF AE; WARNICH L
      MOLECULAR ANALYSIS REVEALS A HIGH MUTATION FREQUENCY IN THE FIRST UNTRANSLATED EXON OF THE PPOX GENE AND LARGELY EXCLUDES VARIEGATE PORPHYRIA IN A SUBSET OF CLINICALLY AFFECTED AFRIKANER FAMILIES

      Molecular and cellular probes
    94. REILLY MM
      GENETICALLY-DETERMINED NEUROPATHIES

      Journal of neurology
    95. SMALL KW; GARCIA CA; GALLARDO G; UDAR N; YELCHITS S
      NORTH-CAROLINA MACULAR DYSTROPHY (MCDR1) IN TEXAS

      Retina
    96. HATCHWELL E; LONG F; WILDE J; CROLLA J; TEMPLE K
      MOLECULAR CONFIRMATION OF GERM-LINE MOSAICISM FOR A SUBMICROSCOPIC DELETION OF CHROMOSOME 22Q11

      American journal of medical genetics
    97. SAITO K; KONDOIIDA E; KAWAKITA Y; JUAN D; IKEYA K; OSAWA M; FUKUYAMA Y; TODA T; NAKABAYASHI M; YAMAMOTO T; KOBAYASHI M
      PRENATAL-DIAGNOSIS OF FUKUYAMA TYPE CONGENITAL MUSCULAR-DYSTROPHY IN 8 JAPANESE FAMILIES BY HAPLOTYPE ANALYSIS USING NEW MARKERS CLOSEST TOTHE GENE

      American journal of medical genetics
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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/05/20 alle ore 09:34:45