Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'WOLFRAM-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 56 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Barrett, TG
      Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    2. Kato, T
      The other, forgotten genome: mitochondrial DNA and mental disorders

      MOLECULAR PSYCHIATRY
    3. Torres, R; Leroy, E; Hu, X; Katrivanou, A; Gourzis, P; Papachatzopoulou, A; Athanassiadou, A; Beratis, S; Collier, D; Polymeropoulos, MH
      Mutation screening of the Wolfram syndrome gene in psychiatric patients

      MOLECULAR PSYCHIATRY
    4. Gomez-Zaera, M; Strom, TM; Rodriguez, B; Estivill, X; Meitinger, T; Nunes, V
      Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees

      MOLECULAR GENETICS AND METABOLISM
    5. Khanim, F; Kirk, J; Latif, F; Barrett, TG
      WFS1/Wolframin mutations, Wolfram syndrome, and associated diseases

      HUMAN MUTATION
    6. Robertson, GL
      Antidiuretic hormone - Normal and disordered function

      ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
    7. Evans, KL; Le Hellard, S; Morris, SW; Lawson, D; Whitton, C; Semple, CAM; Fantes, JA; Torrance, HS; Malloy, MP; Maule, JC; Humphray, SJ; Ross, MT; Bentley, DR; Muir, WJ; Blackwood, DHR; Porteous, DJ
      A 6.9-Mb high-resolution BAC/PAC contig of human 4p15.3-p16.1, a candidateregion for bipolar affective disorder

      GENOMICS
    8. Costi, G; Ten, S; Maclaren, NK
      Medical care from childhood to adulthood in Type 1 and Type 2 diabetes

      JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
    9. Al-Sheyyab, M; Jarrah, N; Younis, E; Shennak, MM; Hadidi, A; Awidi, A; El-Shanti, H; Ajlouni, K
      Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation

      EUROPEAN JOURNAL OF PEDIATRICS
    10. Kato, T
      Molecular genetics of bipolar disorder

      NEUROSCIENCE RESEARCH
    11. Permutt, MA; Hattersley, AT
      Searching for type 2 diabetes genes in the post-genome era

      TRENDS IN ENDOCRINOLOGY AND METABOLISM
    12. Paterson, AD; Petronis, A
      Age of diagnosis-based linkage analysis in type 1 diabetes

      EUROPEAN JOURNAL OF HUMAN GENETICS
    13. Haftel, LT; Lev, D; Barash, V; Gutman, A; Bujanover, Y; Lerman-Sagie, T
      Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder

      JOURNAL OF CHILD NEUROLOGY
    14. Nores, JM; Biacabe, B; Bonfils, P
      Olfactory disorders and general pathologies. Analysis and literature review.

      REVUE DE MEDECINE INTERNE
    15. Ohtsuki, T; Ishiguro, H; Yoshikawa, T; Arinami, T
      WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder

      JOURNAL OF AFFECTIVE DISORDERS
    16. Middle, F; Jones, I; McCandless, F; Barrett, T; Khanim, F; Owen, MJ; Lendon, C; Craddock, N
      Bipolar disorder and variation at a common polymorphism (A1832G) within exon 8 of the Wolfram gene

      AMERICAN JOURNAL OF MEDICAL GENETICS
    17. Evans, KL; Lawson, D; Meitinger, T; Blackwood, DHR; Porteous, DJ
      Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

      AMERICAN JOURNAL OF MEDICAL GENETICS
    18. Cardellach, F; Casademont, J
      Mitochondrial diseases: still a difficult diagnosis

      MEDICINA CLINICA
    19. Swift, M; Swift, RG
      Psychiatric disorders and mutations at the Wolfram syndrome locus

      BIOLOGICAL PSYCHIATRY
    20. Ruiz-Pesini, E; Lapena, AC; Diez-Sanchez, C; Perez-Martos, A; Montoya, J; Alvarez, E; Diaz, M; Urrieis, A; Montoro, L; Lopez-Perez, MJ; Enriquez, JA
      Human mtDNA haplogroups associated with high or reduced spermatozoa motility

      AMERICAN JOURNAL OF HUMAN GENETICS
    21. Rigoli, L; Salpietro, DC; Caruso, RA; Chiarenza, A; Barberi, I
      Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus

      ACTA DIABETOLOGICA
    22. Damore, ME; Speiser, PW; Slonim, AE; New, MI; Shanske, S; Xia, WL; Santorelli, FM; DiMauro, S
      Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    23. Fowler, PD; Jones, NS
      Diabetes and hearing loss

      CLINICAL OTOLARYNGOLOGY
    24. Shoffner, JM
      Oxidative phosphorylation disease diagnosis

      SEMINARS IN NEUROLOGY
    25. Galluzzi, P; Filosomi, G; Vallone, IM; Bardelli, AM; Venturi, C
      MRI of Wolfram syndrome (DIDMOAD)

      NEURORADIOLOGY
    26. Tekgul, S; Oge, O; Simsek, E; Yordam, N; Kendi, S
      Urological manifestations of the Wolfram syndrome: Observations in 14 patients

      JOURNAL OF UROLOGY
    27. Kaukonen, J; Zeviani, M; Comi, GP; Piscaglia, MG; Peltonen, L; Suomalainen, A
      A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

      AMERICAN JOURNAL OF HUMAN GENETICS
    28. Shannon, P; Becker, L; Deck, J
      Evidence of widespread axonal pathology in Wolfram syndrome

      ACTA NEUROPATHOLOGICA
    29. SWIFT RG; POLYMEROPOULOS MH; TORRES R; SWIFT M
      PREDISPOSITION OF WOLFRAM-SYNDROME HETEROZYGOTES TO PSYCHIATRIC-ILLNESS

      Molecular psychiatry
    30. ANKOTCHE A; DELMAS V; LARGER E
      ACUTE-RENAL-FAILURE IN A DIABETIC PATIENT

      DIABETES & METABOLISM
    31. RIGOLI L; ARRIGO T; CORIGLIANO G; DEGIORGI G; FRANZESE A; GIORGETTI R; LASCO A; LUCENTINI L; MARIETTI G; MARTINUCCI ME; PARRILLO M; PICCO P; IAFUSCO D; DELUCA F; CUCINOTTA D
      MITOCHONDRIAL-DNA STUDIES AND CLINICAL FINDINGS IN WOLFRAM-SYNDROME -AN ITALIAN MULTICENTER SURVEY

      Diabetes, nutrition & metabolism
    32. Raz, T; Barrett, T; Szargel, R; Mandel, H; Neufeld, EJ; Nosaka, K; Viana, MB; Cohen, N
      Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity

      HUMAN GENETICS
    33. Hajji, Z; Halhal, M; Chaoui, Z; Chefchaouni, M; Agnaou, L; Berraho, A
      Wolfram syndrome: 3 cases.

      JOURNAL FRANCAIS D OPHTALMOLOGIE
    34. FISCHELGHODSIAN N
      MITOCHONDRIAL GENETICS AND HEARING-LOSS - THE MISSING LINK BETWEEN GENOTYPE AND PHENOTYPE

      Proceedings of the Society for Experimental Biology and Medicine
    35. PARDO G
      NEUROOPHTHALMOLOGICAL MANIFESTATIONS OF DIABETES-MELLITUS

      International ophthalmology clinics
    36. KARAYIORGOU M; GOGOS JA
      DISSECTING THE GENETIC COMPLEXITY OF SCHIZOPHRENIA

      Molecular psychiatry
    37. BRIDGES KR
      SIDEROBLASTIC ANEMIA - A MITOCHONDRIAL DISORDER

      Journal of pediatric hematology/oncology
    38. BARRIENTOS A; CASADEMONT J; GENIS D; CARDELLACH F; FERNANDEZREAL JM; GRAU JM; URBANOMARQUEZ A; ESTIVILL X; NUNES V
      SPORADIC HETEROPLASMIC SINGLE 5.5 KB MITOCHONDRIAL-DNA DELETION ASSOCIATED WITH CEREBELLAR-ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, CHOROIDALDYSTROPHY, AND MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY

      Human mutation
    39. HOFMANN S; JAKSCH M; BEZOLD R; MERTENS S; AHOLT S; PAPROTTA A; GERBITZ KD
      POPULATION-GENETICS AND DISEASE SUSCEPTIBILITY - CHARACTERIZATION OF CENTRAL-EUROPEAN HAPLOGROUPS BY MTDNA GENE-MUTATIONS, CORRELATION WITHD-LOOP VARIANTS AND ASSOCIATION WITH DISEASE

      Human molecular genetics
    40. SUMBOONNANONDA A; VONGJIRAD A; SUNTORNPOCH V; ANGSUSINGHA K; PARICHATIKANOND P; LAOHAPAND T
      RENAL-FAILURE IN 2 PATIENTS WITH WOLFRAM-SYNDROME

      Journal of pediatric endocrinology & metabolism
    41. HOFMANN S; BEZOLD R; JAKSCH M; KAUFHOLD P; OBERMAIERKUSSER B; GERBITZ KD
      ANALYSIS OF THE MITOCHONDRIAL-DNA FROM PATIENTS WITH WOLFRAM (DIDMOAD) SYNDROME

      Molecular and cellular biochemistry
    42. SHERRATT EJ; THOMAS AW; ALCOLADO JC
      MITOCHONDRIAL-DNA DEFECTS - A WIDENING CLINICAL SPECTRUM OF DISORDERS

      Clinical science
    43. BARRETT TG; BUNDEY SE
      WOLFRAM (DIDMOAD) SYNDROME

      Journal of Medical Genetics
    44. INAGAKI T; ISHINO H; SENO H; OHGUNI S; TANAKA J; KATO Y
      PSYCHIATRIC-SYMPTOMS IN A PATIENT WITH DIABETES-MELLITUS ASSOCIATED WITH POINT MUTATION IN MITOCHONDRIAL-DNA

      Biological psychiatry
    45. NEUFELD EJ; MANDEL H; RAZ T; SZARGEL R; YANDAVA CN; STAGG A; FAURE S; BARRETT T; BUIST N; COHEN N
      LOCALIZATION OF THE GENE FOR THIAMINE-RESPONSIVE MEGALOBLASTIC-ANEMIASYNDROME, ON THE LONG ARM OF CHROMOSOME-1, BY HOMOZYGOSITY MAPPING

      American journal of human genetics
    46. GENIS D; DAVALOS A; MOLINS A; FERRER I
      WOLFRAM-SYNDROME - A NEUROPATHOLOGICAL STUDY

      Acta Neuropathologica
    47. ROTIG A; BONNEFONT JP; MUNNICH A
      MITOCHONDRIAL DIABETES-MELLITUS

      Diabetes & metabolism
    48. VANTYGHEM MC; HOBER C; LEFEBVRE J
      HEREDITARY DIABETES-INSIPIDUS - RECENT AD VANCES IN MOLECULAR-GENETICS

      La Presse medicale
    49. NEWMAN NJ
      OPTIC NEUROPATHY

      Neurology
    50. KIECHLE FL; KAUL KL; FARKAS DH
      MITOCHONDRIAL DISORDERS - METHODS AND SPECIMEN SELECTION FOR DIAGNOSTIC MOLECULAR PATHOLOGY

      Archives of pathology and laboratory medicine
    51. NEWMAN NJ
      NEUROOPHTHALMOLOGY AND SYSTEMIC-DISEASE .1. AN ANNUAL-REVIEW (1994)

      Journal of neuro-ophthalmology
    52. GERBITZ KD; VANDENOUWELAND JMW; MAASSEN JA; JAKSCH M
      MITOCHONDRIAL DIABETES-MELLITUS - A REVIEW

      Biochimica et biophysica acta. Molecular basis of disease
    53. BITOUN P
      WOLFRAM-SYNDROME - A REPORT OF 4 CASES AND REVIEW OF THE LITERATURE

      Ophthalmic genetics
    54. VENDRELL J; ERCILLA G; FAUNDEZ A; SOLER S; GUTIERREZ C; GOMIS R; VILARDELL E; RICHART C
      ANALYSIS OF THE CONTRIBUTION OF THE HLA SYSTEM TO THE INHERITANCE IN THE WOLFRAM-SYNDROME

      Diabetes research and clinical practice
    55. MCCABE ERB
      MICROCOMPARTMENTATION OF ENERGY-METABOLISM AT THE OUTER MITOCHONDRIAL-MEMBRANE - ROLE IN DIABETES-MELLITUS AND OTHER DISEASES

      Journal of bioenergetics and biomembranes
    56. VANDENBERGH L; ZEYEN T; VERHELST J; MAHLER C
      WOLFRAM-SYNDROME - A CLINICAL-STUDY OF 2 CASES

      Documenta ophthalmologica


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/12/19 alle ore 10:02:27