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La ricerca find articoli where soggetti phrase all words 'RILEY-RUVALCABA-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 40 riferimenti
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    1. Wirtzfeld, DA; Petrelli, NJ; Rodriguez-Bigas, MA
      Hamartomatous polyposis syndromes: Molecular genetics, neoplastic risk, and surveillance recommendations

      ANNALS OF SURGICAL ONCOLOGY
    2. Hildenbrand, C; Burgdorf, WHC; Lautenschlager, S
      Cowden syndrome - Diagnostic skin signs

      DERMATOLOGY
    3. Yu, WP; Pallen, CJ; Tay, A; Jirik, FR; Brenner, S; Tan, YH; Venkatesh, B
      Conserved synteny between the Fugu and human PTEN locus and the evolutionary conservation of vertebrate PTEN function

      ONCOGENE
    4. Tung, YC; Tsau, YK; Chu, LW; Young, C; Shen, YZ
      Lipid myopathy associated with renal tubular acidosis and spastic diplegiain two brothers

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    5. Niepomniszcze, H; Amad, RH
      Skin disorders and thyroid diseases

      JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
    6. Aguiar, RCT; Dahia, PLM
      Identification and characterization of disease-related genes: Focus on endocrine neoplasias

      GENETIC DISORDERS OF ENDOCRINE NEOPLASIA
    7. Marsh, DJ; Stratakis, CA
      Hamartoma and lentiginosis syndromes: Clinical and molecular aspects

      GENETIC DISORDERS OF ENDOCRINE NEOPLASIA
    8. Wanner, M; Celebi, JT; Peacocke, M
      Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome

      JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
    9. Goffin, A; Hoefsloot, LH; Bosgoed, E; Swillen, A; Fryns, JP
      PTEN mutation in a family with Cowden syndrome and autism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Padwa, BL; Mulliken, JB
      Facial infiltrating lipomatosis

      PLASTIC AND RECONSTRUCTIVE SURGERY
    11. Fackenthal, JD; Marsh, DJ; Richardson, AL; Cummings, SA; Eng, C; Robinson, BG; Olopade, OI
      Male breast cancer in Cowden syndrome patients with germline PTEN mutations

      JOURNAL OF MEDICAL GENETICS
    12. Gimm, O; Chi, HB; Dahia, PLM; Perren, A; Hinze, R; Komminoth, P; Dralle, H; Reynolds, PR; Eng, C
      Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    13. Lowichik, A; White, FV; Timmons, CF; Weinberg, AG; Gunasekaran, TS; Nathan, K; Coffin, CM
      Bannayan-Riley-Ruvalcaba syndrome: Spectrum of intestinal pathology including juvenile polyps

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    14. Bonneau, D; Longy, M
      Mutations of the human PTEN gene

      HUMAN MUTATION
    15. Parisi, MA; Sybert, VP
      Molecular genetics in pediatric dermatology

      CURRENT OPINION IN PEDIATRICS
    16. Gimm, O; Attie-Bitach, T; Lees, JA; Vekemans, M; Eng, C
      Expression of the PTEN tumour suppressor protein during human development

      HUMAN MOLECULAR GENETICS
    17. Celebi, JT; Ping, XL; Zhang, H; Remington, T; Sulica, VI; Tsou, HC; Peacocke, M
      Germline PTEN mutations in three families with Cowden syndrome

      EXPERIMENTAL DERMATOLOGY
    18. Celebi, JT; Wanner, M; Ping, XL; Zhang, H; Peacocke, M
      Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome

      HUMAN GENETICS
    19. Stratakis, CA
      Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses

      HORMONE RESEARCH
    20. Eng, C
      Will the real Cowden syndrome please stand up: revised diagnostic criteria

      JOURNAL OF MEDICAL GENETICS
    21. Woodford-Richens, K; Bevan, S; Churchman, M; Dowling, B; Jones, D; Norbury, CG; Hodgson, SV; Desai, D; Neale, K; Phillips, RKS; Young, J; Leggett, B; Dunlop, M; Rozen, P; Eng, C; Markie, D; Rodriguez-Bigas, MA; Sheridan, E; Iwama, T; Eccles, D; Smith, GT; Kim, JC; Kim, KM; Sampson, JR; Evans, G; Tejpar, S; Bodmer, WF; Tomlinson, IPM; Houlston, RS
      Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

      GUT
    22. Mulliken, JB; Fishman, SJ; Burrows, PE
      Vascular anomalies

      CURRENT PROBLEMS IN SURGERY
    23. Hampel, H; Peltomaki, P
      Hereditary colorectal cancer: risk assessment and management

      CLINICAL GENETICS
    24. Huang, SC; Chen, CR; Lavine, JE; Taylor, SF; Newbury, RO; Pham, TTT; Ricciardiello, L; Carethers, JM
      Genetic heterogeneity in familial juvenile polyposis

      CANCER RESEARCH
    25. Celebi, JT; Chen, FF; Zhang, H; Ping, XL; Tsou, HC; Peacocke, M
      Identification of PTEN mutations in five families with Bannayan-Zonana syndrome

      EXPERIMENTAL DERMATOLOGY
    26. Cribier, B
      Adnexal tumors and associated diseases. Part I: Follicular tumors

      ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
    27. Otto, LR; Boriack, RL; Marsh, DJ; Kum, JB; Eng, C; Burlina, AB; Bennett, MJ
      Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (ERRS)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Jass, JR
      Broadsheet number 52: Molecular genetics of colorectal cancer

      PATHOLOGY
    29. Celebi, JT; Tsou, HC; Chen, FF; Zhang, H; Ping, XL; Lebwohl, MG; Kezis, J; Peacocke, M
      Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN

      JOURNAL OF MEDICAL GENETICS
    30. Ali, IU; Schriml, LM; Dean, M
      Mutational spectra of PTEN/MMAC1 gene: a tumor suppressor with lipid phosphatase activity

      JOURNAL OF THE NATIONAL CANCER INSTITUTE
    31. ENG C
      GENETICS OF COWDEN-SYNDROME - THROUGH THE LOOKING-GLASS OF ONCOLOGY (REVIEW)

      International journal of oncology
    32. MARSH DJ; COULON V; LUNETTA KL; ROCCASERRA P; DAHIA PLM; ZHENG ZM; LIAW D; CARON S; DUBOUE B; LIN AY; RICHARDSON AL; BONNETBLANC JM; BRESSIEUX JM; CABARROTMOREAU A; CHOMPRET A; DEMANGE L; EELES RA; YAHANDA AM; FEARON ER; FRICKER JP; GORLIN RJ; HODGSON SV; HUSON S; LACOMBE D; LEPRAT F; ODENT S; TOULOUSE C; OLOPADE OI; SOBOL H; TISHLER S; WOODS CG; ROBINSON BG; WEBER HC; PARSONS R; PEACOCKE M; LONGY M; ENG C
      MUTATION SPECTRUM AND GENOTYPE-PHENOTYPE ANALYSES IN COWDEN-DISEASE AND BANNAYAN-ZONANA-SYNDROME, 2 HAMARTOMA SYNDROMES WITH GERMLINE PTEN MUTATION

      Human molecular genetics
    33. COHEN MM
      PERSPECTIVES ON OVERGROWTH SYNDROMES

      American journal of medical genetics
    34. DILIBERTI JH
      INHERITED MACROCEPHALY-HAMARTOMA SYNDROMES

      American journal of medical genetics
    35. Zori, RT; Marsh, DJ; Graham, GE; Marliss, EB; Eng, C
      Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    36. DESAI DC; MURDAY V; PHILLIPS RKS; NEALE KF; MILLA P; HODGSON SV
      A SURVEY OF PHENOTYPIC FEATURES IN JUVENILE POLYPOSIS

      Journal of Medical Genetics
    37. LONGY M; COULON V; DUBOUE B; DAVID A; LARREGUE M; ENG C; AMATI P; KRAIMPS JL; BOTTANI A; LACOMBE D; BONNEAU D
      MUTATIONS OF PTEN IN PATIENTS WITH BANNAYAN-RILEY-RUVALCABA PHENOTYPE

      Journal of Medical Genetics
    38. REQUENA L; SANGUEZA OP
      CUTANEOUS VASCULAR ANOMALIES .1. HAMARTOMAS, MALFORMATIONS, AND DILATATION OF PREEXISTING VESSELS

      Journal of the American Academy of Dermatology
    39. ARCH EM; GOODMAN BK; VANWESEP RA; LIAW D; CLARKE K; PARSONS R; MCKUSICK VA; GERAGHTY MT
      DELETION OF PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE

      American journal of medical genetics
    40. FRYBURG JS; PELEGANO JP; BENNETT MJ; BEBIN EM
      LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN A PATIENT WITH THE BANNAYAN-RILEY-RUVALCABA-SYNDROME

      American journal of medical genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/08/20 alle ore 23:42:02