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    1. Street, VA; Goldy, JD; Golden, AS; Tempel, BL; Bird, TD; Chance, PF
      Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Bennett, CL; Chance, PF
      Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies

      CURRENT OPINION IN NEUROLOGY
    3. Bennett, CL; Christie, J; Ramsdell, F; Brunkow, ME; Ferguson, PJ; Whitesell, L; Kelly, TE; Saulsbury, FT; Chance, PF; Ochs, HD
      The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

      NATURE GENETICS
    4. Bennett, CL; Brunkow, ME; Ramsdell, F; O'Briant, KC; Zhu, Q; Fuleihan, RL; Shigeoka, AO; Ochs, HD; Chance, PF
      A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA -> AAUGAA) leads to the IPEX syndrome

      IMMUNOGENETICS
    5. Jeannet, PY; Watts, GDJ; Bird, TD; Chance, PF
      Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy

      NEUROLOGY
    6. Watts, GDJ; O'Briant, KC; Borreson, TE; Windebank, AJ; Chance, PF
      Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy

      NEUROLOGY
    7. Han, LL; Keller, MP; Navidi, W; Chance, PF; Arnheim, N
      Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate

      HUMAN MOLECULAR GENETICS
    8. Bennett, CL; Yoshioka, R; Kiyosawa, H; Barker, DF; Fain, PR; Shigeoka, AO; Chance, PF
      X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. Keller, MP; Chance, PF
      Inherited neuropathies: From gene to disease

      BRAIN PATHOLOGY
    10. Kalikin, LM; George, RAV; Keller, MP; Bort, S; Bowler, NS; Law, DJ; Chance, PF; Petty, EM
      An integrated physical and gene map of human distal chromosome 17q24-proximal 17q25 encompassing multiple disease loci

      GENOMICS
    11. Chance, PF; Cavalier, L; Satran, D; Pellegrino, JE; Boltshauser, E; Koening, M; Dobyns, WB
      Clinical nosologic and genetic aspects of Joubert and related syndromes (vol 14, pg 660, 1999)

      JOURNAL OF CHILD NEUROLOGY
    12. Chance, PF; Cavalier, L; Satran, D; Pellegrino, JE; Koenig, M; Dobyns, WB
      Clinical nosologic and genetic aspects of Joubert and related syndromes

      JOURNAL OF CHILD NEUROLOGY
    13. Chance, PF
      Molecular genetics of hereditary neuropathies

      JOURNAL OF CHILD NEUROLOGY
    14. Keller, MP; Seifried, BA; Chance, PF
      Molecular evolution of the CMT1A-REP region: A human- and chimpanzee-specific repeat

      MOLECULAR BIOLOGY AND EVOLUTION
    15. Keller, MP; Seifried, BA; Rabin, BA; Chance, PF
      Mapping of the kinesin-related gene ATSV to chromosome 2q37

      HUMAN GENETICS
    16. Keller, MP; Chance, PF
      Inherited peripheral neuropathy

      SEMINARS IN NEUROLOGY
    17. Rabin, BA; Griffin, JW; Crain, BJ; Scavina, M; Chance, PF; Cornblath, DR
      Autosomal dominant juvenile amyotrophic lateral sclerosis

      BRAIN
    18. YAMAMOTO M; KELLER MP; YASUDA T; HAYASAKA K; OHNISHI A; YOSHIKAWA H; YANAGIHARA T; MITSUMA T; CHANCE PF; SOBUE G
      CLUSTERING OF CMT1A DUPLICATION BREAKPOINTS IN A 700 BP INTERVAL OF THE CMT1A-REP REPEAT

      Human mutation
    19. RABIN BA; GRIFFIN JW; CRAIN BJ; SCAVINA M; CHANCE PF; CORNBLATH DR
      NEUROPATHOLOGY OF AUTOSOMAL-DOMINANT JUVENILE AMYOTROPHIC-LATERAL-SCLEROSIS

      Annals of neurology
    20. GOSSETT JG; CHANCE PF
      IS THERE A FAMILIAL CARPAL-TUNNEL SYNDROME - AN EVALUATION AND LITERATURE-REVIEW

      Muscle & nerve
    21. CHANCE PF; DYCK PJ
      HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - A PATIENTSPOINT MUTATION IN A MOUSE MODEL

      Neurology
    22. CHANCE PF
      GENETIC-LINKAGE ANALYSIS AS A TOOL FOR UNDERSTANDING THE MOLECULAR-BASIS OF HUMAN-DISEASE

      Journal of neurochemistry
    23. CHANCE PF; RABIN BA; RYAN SG; DING Y; SCAVINA M; CONWAY D; CRAIN B; GRIFFIN JW; CORNBLATH DR
      LINKAGE OF THE GENE FOR AN AUTOSOMAL-DOMINANT FORM OF JUVENILE AMYOTROPHIC-LATERAL-SCLEROSIS TO CHROMOSOME 9Q34 (VOL 62, PG 633, 1998)

      American journal of human genetics
    24. CHANCE PF; RABIN BA; RYAN SG; DING Y; SCAVINA M; CRAIN B; GRIFFIN JW; CORNBLATH DR
      LINKAGE OF THE GENE FOR AN AUTOSOMAL-DOMINANT FORM OF JUVENILE AMYOTROPHIC-LATERAL-SCLEROSIS TO CHROMOSOME 9Q34

      American journal of human genetics
    25. RYAN SG; CHANCE PF; ZOU CH; SPINNER NB; GOLDEN JA; SMIETANA S
      EPILEPSY AND MENTAL-RETARDATION LIMITED TO FEMALES - AN X-LINKED DOMINANT DISORDER WITH MALE SPARING

      Nature genetics
    26. RYAN SG; CHANCE PF; GOLDEN JA; SMIETANA S
      A FAMILY WITH EPILEPSY AND MENTAL-RETARDATION LIMITED TO FEMALES DEFINES A NEW INHERITANCE PATTERN - X-LINKAGE WITH MALE SPARING

      Annals of neurology
    27. YAMAMOTO M; YASUDA T; HAYASAKA K; OHNISHI A; YOSHIKAWA H; YANAGIHARA T; IKEGAMI T; YAMAMOTO T; OHASHI H; NISHIMURA T; MITSUMA T; KIYOSAWA H; CHANCE PF; SOBUE G
      LOCATIONS OF CROSSOVER BREAKPOINTS WITHIN THE CMT1A-REP REPEAT IN JAPANESE PATIENTS WITH CMT1A AND HNPP

      Human genetics
    28. PELLEGRINO JE; GEORGE RAV; BIEGEL J; FARLOW MR; GARDNER K; CARESS J; BROWN MJ; REBBECK TR; BIRD TD; CHANCE PF
      HEREDITARY NEURALGIC AMYOTROPHY - EVIDENCE FOR GENETIC HOMOGENEITY AND MAPPING TO CHROMOSOME 17Q25

      Human genetics
    29. PELLEGRINO JE; LENSCH MW; MUENKE M; CHANCE PF
      CLINICAL AND MOLECULAR ANALYSIS IN JOUBERT-SYNDROME

      American journal of medical genetics
    30. VADASZ AG; CHANCE PF; EPSTEIN LG; LOU JS
      FAMILIAL AUTOSOMAL-DOMINANT CARPAL-TUNNEL SYNDROME PRESENTING IN A 5-YEAR-OLD CASE-REPORT AND REVIEW OF THE LITERATURE

      Muscle & nerve
    31. LYNCH DR; HARA H; YUM SW; CHANCE PF; SCHERER SS; BIRD SJ; FISCHBECK KH
      AUTOSOMAL-DOMINANT TRANSMISSION OF DEJERINE-SOTTAS-DISEASE (HMSN-III)

      Neurology
    32. KELLER MP; CHANCE PF
      CMT1A-REP REPEAT - MOLECULAR ONTOGENY AND FURTHER DEFINITION OF A RECOMBINATIONAL HOTSPOT

      American journal of human genetics
    33. PELLEGRINO JE; GEORGE RAV; BIEGEL J; FARLOW MR; GARDNER K; CARESS J; BROWN MJ; REBBECK TR; BIRD TD; CHANCE PF
      HEREDITARY NEURALGIC AMYOTROPHY - REFINED MAPPING TO CHROMOSOME 17Q25

      American journal of human genetics
    34. CHANCE PF; WINDEBANK AJ
      HEREDITARY NEURALGIC AMYOTROPHY

      Current opinion in neurology
    35. ROA BB; WARNER LE; GARCIA CA; RUSSO D; LOVELACE R; CHANCE PF; LUPSKI JR
      MYELIN PROTEIN ZERO (MPZ) GENE-MUTATIONS IN NONDUPLICATION TYPE-1 CHARCOT-MARIE-TOOTH DISEASE

      Human mutation
    36. NELIS E; WARNER LE; DEVRIENDT E; CHANCE PF; LUPSKI JR; VANBROECKHOVEN C
      COMPARISON OF SINGLE-STRAND CONFORMATION POLYMORPHISM AND HETERODUPLEX ANALYSIS FOR DETECTION OF MUTATIONS IN CHARCOT-MARIE-TOOTH TYPE-1 DISEASE AND RELATED PERIPHERAL NEUROPATHIES

      European journal of human genetics
    37. BINGHAM PM; SPINNER NB; SOVINSKY L; ZACKAI EH; CHANCE PF
      INFANTILE SPASMS ASSOCIATED WITH PROXIMAL DUPLICATION OF CHROMOSOME 15Q

      Pediatric neurology
    38. ALLEN TL; BROTHMAN AR; CAREY JC; CHANCE PF
      CYTOGENETIC AND MOLECULAR ANALYSIS IN TRISOMY 12P

      American journal of medical genetics
    39. PELLEGRINO JE; REBBECK TR; BROWN MJ; BIRD TD; CHANCE PF
      MAPPING OF HEREDITARY NEURALGIC AMYOTROPHY (FAMILIAL BRACHIAL-PLEXUS NEUROPATHY) TO DISTAL CHROMOSOME 17Q

      Neurology
    40. PELLEGRINO JE; REBBECK TR; BROWN MJ; FARLOW MR; BROWN RH; BUSIS NA; CARESS J; LIPE H; BIRD TD; CHANCE PF
      GENETIC-ANALYSIS IN HEREDITARY NEURALGIC AMYOTROPHY

      Neurology
    41. GROSS DW; RAJPUT AH; CHANCE PF; YEUNG M
      HEREDITARY DISTAL ULNAR-MEDIAN MUSCULAR-ATROPHY - A DISTINCT INHERITED MOTOR NEUROPATHY

      Neurology
    42. YOSHIOKA R; DYCK PJ; CHANCE PF
      GENETIC-HETEROGENEITY IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2

      Neurology
    43. GRAF WD; CHANCE PF; LENSCH MW; ENG LJ; LIPE HP; THOMAS TD
      SEVERE VINCRISTINE NEUROPATHY IN CHARCOT-MARIE-TOOTH-DISEASE TYPE-1A

      Cancer
    44. FAIN PR; KORT EN; CHANCE PF; NGUYEN K; REDD DF; ECONS MJ; BARKER DF
      A 2D CROSSOVER-BASED MAP OF THE HUMAN X-CHROMOSOME AS A MODEL FOR MAPINTEGRATION

      Nature genetics
    45. SCHERER SS; CHANCE PF
      MYELIN GENES - GETTING THE DOSAGE RIGHT

      Nature genetics
    46. KIYOSAWA H; LENSCH MW; CHANCE PF
      ANALYSIS OF THE CMT1A-REP REPEAT - MAPPING CROSSOVER BREAKPOINTS IN CMT1A AND HNPP

      Human molecular genetics
    47. BONE LJ; DAHL N; LENSCH MW; CHANCE PF; KELLY T; LEGUERN E; MAGI S; PARRY G; SHAPIRO H; WANG S; FISCHBECK KH
      NEW CONNEXIN32 MUTATIONS ASSOCIATED WITH X-LINKED CHARCOT-MARIE-TOOTHDISEASE

      Neurology
    48. PELLEGRINO JE; FLANNERY DB; ZACKAI EH; MUENKE M; CHANCE PF
      CLINICAL AND MOLECULAR ANALYSIS IN JOUBERT SYNDROME

      American journal of human genetics
    49. ZACKAI EH; MCDONALDMCGINN DM; BASON L; BINGHAM P; PELLEGRINO J; BIEGEL J; WOLFF DJ; YOUNKIN D; CHANCE PF; SPINNER NB
      MOLECULAR-GENETICS GUIDES CLINICAL GENETICIST - BEDSIDE TO BENCH NOW A 2-WAY STREET

      American journal of human genetics
    50. CHANCE PF; REILLY M
      INHERITED NEUROPATHIES

      Current opinion in neurology
    51. CHANCE PF; ABBAS N; LENSCH MW; PENTAO L; ROA BB; PATEL PI; LUPSKI JR
      2 AUTOSOMAL-DOMINANT NEUROPATHIES RESULT FROM RECIPROCAL DNA DUPLICATION DELETION OF A REGION ON CHROMOSOME-17/

      Human molecular genetics
    52. CHANCE PF; FISCHBECK KH
      MOLECULAR-GENETICS OF CHARCOT-MARIE-TOOTH DISEASE AND RELATED NEUROPATHIES

      Human molecular genetics
    53. CHANCE PF; LUPSKI JR
      INHERITED NEUROPATHIES - CHARCOT-MARIE-TOOTH DISEASE AND RELATED DISORDERS

      Bailliere's clinical neurology
    54. CORNBLATH DR; RABIN BA; GRIFFIN JW; CHANCE PF
      AUTOSOMAL-DOMINANT MOTOR SYSTEMS DISEASE IN A MARYLAND KINDRED

      Annals of neurology
    55. DYCK PJ; LITCHY WJ; MINNERATH S; BIRD TD; CHANCE PF; SCHAID DJ; ARONSON AE
      HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH DIAPHRAGM AND VOCAL CORDPARESIS

      Annals of neurology
    56. CHANCE PF; LENSCH MW; LIPE H; BROWN RH; BROWN RH; BIRD TD
      HEREDITARY NEURALGIC AMYOTROPHY AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - 2 DISTINCT GENETIC-DISORDERS

      Neurology
    57. FAIN PR; BARKER DF; CHANCE PF
      REFINED GENETIC-MAPPING OF X-LINKED CHARCOT-MARIE-TOOTH NEUROPATHY

      American journal of human genetics
    58. ROA BB; DYCK PJ; MARKS HG; CHANCE PF; LUPSKI JR
      DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PERIPHERAL MYELIN PROTEIN 22 (PMP22) GENE

      Nature genetics
    59. HAYASAKA K; HIMORO M; SATO W; TAKADA G; UYEMURA K; SHIMIZU N; BIRD TD; CONNEALLY PM; CHANCE PF
      CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1B IS ASSOCIATED WITH MUTATIONS OF THE MYELIN-P(0) GENE

      Nature genetics
    60. LEBO RV; CHANCE PF; DYCK PJ; REDILAFLORES MT; LYNCH ED; GOLBUS MS; BIRD TD; KING MC; ANDERSON LA; HALL J; WIEGANT J; JIANG ZR; DAZIN PF; PUNNETT HH; SCHONBERG SA; MOORE K; SHULL MM; GENDLER S; HURKO O; LOVELACE RE; LATOV N; TROFATTER J; CONNEALLY PM
      CHROMOSOME 1 CHARCOT-MARIE-TOOTH DISEASE (CMT1B) LOCUS IN THE FC-GAMMA RECEPTOR GENE REGION (VOL 88, PG 1, 1991)

      Human genetics
    61. LUPSKI JR; CHANCE PF; GARCIA CA
      INHERITED PRIMARY PERIPHERAL NEUROPATHIES - MOLECULAR-GENETICS AND CLINICAL IMPLICATIONS OF CMT1A AND HNPP

      JAMA, the journal of the American Medical Association
    62. BERGOFFEN J; SCHERER SS; WANG S; SCOTT MO; BONE LJ; PAUL DL; CHEN K; LENSCH MW; CHANCE PF; FISCHBECK KH
      CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE

      Science
    63. CHANCE PF; PLEASURE D
      CHARCOT-MARIE-TOOTH SYNDROME

      Archives of neurology


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Documento generato il 25/01/21 alle ore 12:52:20