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La ricerca find articoli where soggetti phrase all words 'TUBEROUS SCLEROSIS COMPLEX' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 67 riferimenti
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    1. Moss, J; Avila, NA; Barnes, PM; Litzenberger, RA; Bechtle, J; Brooks, PG; Hedin, CJ; Hunsberger, S; Kristof, AS
      Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    2. Nijhawan, A; Lyon, VB; Drolet, BA
      Pediatric dermatology: Cutaneous markers of malformations and selected syndromes - What do you see, when do you see it, and how do you find it?

      CURRENT PROBLEMS IN DERMATOLOGY-US
    3. Jimenez, RE; Eble, JN; Reuter, VE; Epstein, JI; Folpe, AL; de Peralta-Venturina, M; Tamboli, P; Ansell, ID; Grignon, DJ; Young, RH; Amin, MB
      Concurrent angiomyolipoma and renal cell neoplasia: A study of 36 cases

      MODERN PATHOLOGY
    4. Goh, SGN; Ho, JMS; Chuah, KL; Tan, PH; Poh, WT; Riddell, RH
      Leiomyomatosis-like lymphangioleiomyomatosis of the colon in a female withtuberous sclerosis

      MODERN PATHOLOGY
    5. Asano, E; Chugani, DC; Juhasz, C; Muzik, O; Chugani, HT
      Surgical treatment of West syndrome

      BRAIN & DEVELOPMENT
    6. Wataya-Kaneda, M; Kaneda, Y; Hino, O; Adachi, H; Hirayama, Y; Seyama, K; Satou, T; Yoshikawa, K
      Cells derived from tuberous sclerosis show a prolonged S phase of the cellcycle and increased apoptosis

      ARCHIVES OF DERMATOLOGICAL RESEARCH
    7. Kuhnen, C; Preisler, K; Muller, KM
      Pulmonary lymphangioleiomyomatosis. Morphological and immunohistochemical findings

      PATHOLOGE
    8. Roberts, PS; Jozwiak, S; Kwiatkowski, DJ; Dabora, SL
      Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene

      JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS
    9. Moss, J; DeCastro, R; Patronas, NJ; Taveira-DeSilva, A
      Meningiomas in lymphangioleiomyomatosis

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    10. Chugani, HT; Chugani, DC
      Abnormal development and catastrophic epilepsies: The clinical picture andrelation to neuroimaging

      BRAIN PLASTICITY AND EPILEPSY
    11. Wilson, AM; Slack, HL; Soosay, SA; Taylor, T; Carey, FA; Grove, A; Brown, PH; Winter, JH
      Lymphangioleiomyomatosis - A series of three case reports illustrating thelink with high oestrogen states

      SCOTTISH MEDICAL JOURNAL
    12. Hartman, TE
      CT of cystic diseases of the lung

      RADIOLOGIC CLINICS OF NORTH AMERICA
    13. Moulis, H
      Untitled

      JOURNAL OF PEDIATRIC SURGERY
    14. Lauritsen, MB; Ewald, H
      The genetics of autism

      ACTA PSYCHIATRICA SCANDINAVICA
    15. Caplan, R; Austin, JK
      Behavioral. aspects of epilepsy in children with mental retardation

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    16. Benit, P; Kara-Mostefa, A; Berthelon, M; Sengmany, K; Munnich, A; Bonnefont, JP
      Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

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

      CURRENT OPINION IN PEDIATRICS
    18. Sakurai, A; Matsumoto, K; Ikeo, Y; Nishio, SI; Kakizawa, T; Arakura, F; Ishihara, Y; Saida, T; Hashizume, K
      Frequency of facial angiofibromas in Japanese patients with multiple endocrine neoplasia type 1

      ENDOCRINE JOURNAL
    19. Juhasz, C; Chugani, DC; Muzik, O; Watson, C; Shah, J; Shah, A; Chugani, HT
      Relationship between EEG and positron emission tomography abnormalities inclinical epilepsy

      JOURNAL OF CLINICAL NEUROPHYSIOLOGY
    20. Lagae, L
      Cortical malformations: a frequent cause of epilepsy in children

      EUROPEAN JOURNAL OF PEDIATRICS
    21. Tsao, H
      Update on familial cancer syndromes and the skin

      JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
    22. Yamashita, Y; Ono, J; Okada, S; Wataya-Kaneda, M; Yoshikawa, K; Nishizawa, M; Hirayama, Y; Kobayashi, E; Seyama, K; Hino, O
      DAnalysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: Report of 10 mutations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Folpe, AL; Goodman, ZD; Ishak, KG; Paulino, AFG; Taboada, EM; Meehan, SA; Weiss, SW
      Clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres- A novel member of the perivascular epithelioid clear cell family of tumors with a predilection for children and young adults

      AMERICAN JOURNAL OF SURGICAL PATHOLOGY
    24. Levy, M; Feingold, J
      Estimating prevalence in single-gene kidney diseases progressing to renal failure

      KIDNEY INTERNATIONAL
    25. Asano, E; Chugani, DC; Muzik, O; Shen, C; Juhasz, C; Janisse, J; Ager, J; Canady, A; Shah, JR; Shah, AK; Watson, C; Chugani, HT
      Multimodality imaging for improved detection of epileptogenic foci in tuberous sclerosis complex

      NEUROLOGY
    26. Dabora, SL; Nieto, AA; Franz, D; Jozwiak, S; van den Ouweland, A; Kwiatkowski, D
      Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination

      JOURNAL OF MEDICAL GENETICS
    27. Logginidou, H; Ao, X; Russo, I; Henske, EP
      Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis

      CHEST
    28. Zhang, H; Nanba, E; Yamamoto, T; Ninomiya, H; Ohno, K; Mizuguchi, M; Takeshita, K
      Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

      JOURNAL OF HUMAN GENETICS
    29. Koh, S; Jayakar, P; Resnick, T; Alvarez, L; Liit, RE; Duchowny, M
      The localizing value of ictal SPECT in children with tuberous sclerosis complex and refractory partial epilepsy

      EPILEPTIC DISORDERS
    30. Henske, EP; Thorner, P; Patterson, K; Zhuang, ZP; Bernstein, J
      Renal cell carcinoma in children with diffuse cystic hyperplasia of the kidneys

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    31. Mayer, K; Ballhausen, W; Rott, HD
      Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test PTT identifies frequent splicing defects

      HUMAN MUTATION
    32. Niida, Y; Lawrence-Smith, N; Banwell, A; Hammer, E; Lewis, J; Beauchamp, RL; Sims, K; Ramesh, VL; Ozelius, L
      Analysis of both TCS1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

      HUMAN MUTATION
    33. Neumann, HPH
      The spectrum of renal cysts in adulthood - discussion of eight cases

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    34. Plank, TL; Logginidou, H; Klein-Szanto, A; Henske, EP
      The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas

      MODERN PATHOLOGY
    35. Verhoef, S; van Diemen-Steenvoorde, R; Akkersdijk, WL; Bax, NMA; Ariyurek, Y; Hermans, CJ; van Nieuwenhuizen, O; Nikkels, PGJ; Lindhout, D; Halley, DJJ; Lips, K; van den Ouweland, AMW
      Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood

      EUROPEAN JOURNAL OF PEDIATRICS
    36. Korf, BR
      Genetic testing for patients with renal disease: Procedures, pitfalls, andethical considerations

      SEMINARS IN NEPHROLOGY
    37. Crino, PB; Henske, EP
      New developments in the neurobiology of the tuberous sclerosis complex

      NEUROLOGY
    38. van Slegtenhorst, M; Verhoef, S; Tempelaars, A; Bakker, L; Wang, Q; Wessels, M; Bakker, R; Nellist, M; Lindhout, D; Halley, D; van den Ouweland, A
      Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosiscomplex patients: no evidence for genotype-phenotype correlation

      JOURNAL OF MEDICAL GENETICS
    39. BEAUCHAMP RL; BANWELL A; MCNAMARA P; JACOBSEN M; HIGGINS E; NORTHRUP H; SHORT P; SIMS K; OZELIUS L; RAMESH V
      EXON SCANNING OF THE ENTIRE TSC2 GENE FOR GERMLINE MUTATIONS IN 40 UNRELATED PATIENTS WITH TUBEROUS SCLEROSIS

      Human mutation
    40. EBLE JN
      ANGIOMYOLIPOMA OF KIDNEY

      Seminars in diagnostic pathology
    41. WATANABE K
      WEST-SYNDROME - ETIOLOGIC AND PROGNOSTIC ASPECTS

      Brain & development
    42. BAKER P; PIVEN J; SATO Y
      AUTISM AND TUBEROUS SCLEROSIS COMPLEX - PREVALENCE AND CLINICAL-FEATURES

      Journal of autism and developmental disorders
    43. GUTIERREZ GC; SMALLEY SL; TANGUAY PE
      AUTISM IN TUBEROUS SCLEROSIS COMPLEX

      Journal of autism and developmental disorders
    44. MARTIGNONI G; PEA M; BONETTI F; ZAMBONI G; CARBONARA C; LONGA L; ZANCANARO C; MARAN M; BRISIGOTTI M; MARIUZZI GM
      CARCINOMA-LIKE MONOTYPIC EPITHELIOID ANGIOMYOLIPOMA IN PATIENTS WITHOUT EVIDENCE OF TUBEROUS SCLEROSIS - A CLINICOPATHOLOGICAL AND GENETIC-STUDY

      The American journal of surgical pathology
    45. Sullivan, EJ
      Lymphangioleiomyomatosis - A review

      CHEST
    46. Kwiatkowska, J; Jozwiak, S; Hall, F; Henske, EP; Haines, JL; McNamara, P; Braiser, J; Wigowska-Sowinska, J; Kasprzyk-Obara, J; Short, MP; Kwiatkowski, DJ
      Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

      ANNALS OF HUMAN GENETICS
    47. SMOLAREK TA; WESSNER LL; MCCORMACK FX; MYLET JC; MENON AG; HENSKE EP
      EVIDENCE THAT LYMPHANGIOMYOMATOSIS IS CAUSED BY TSC2 MUTATIONS - CHROMOSOME 16P13 LOSS OF HETEROZYGOSITY IN ANGIOMYOLIPOMAS AND LYMPH-NODESFROM WOMEN WITH LYMPHANGIOMYOMATOSIS

      American journal of human genetics
    48. AU KS; RODRIGUEZ JA; RODRIGUEZ E; DOBYNS WB; DELGADO MR; NORTHRUP H
      MUTATIONS AND POLYMORPHISMS IN THE TUBEROUS SCLEROSIS COMPLEX GENE ONCHROMOSOME-16

      Human mutation
    49. BAUMGARTNER JE; WHELESS JW; KULKARNI S; NORTHRUP H; AU KS; SMITH A; BROOKSHIR B
      ON THE SURGICAL-TREATMENT OF REFRACTORY EPILEPSY IN TUBEROUS SCLEROSIS COMPLEX

      Pediatric neurosurgery
    50. VANBAKEL I; SEPP T; WARD S; YATES JRW; GREEN AJ
      MUTATIONS IN THE TSC2 GENE - ANALYSIS OF THE COMPLETE CODING SEQUENCEUSING THE PROTEIN TRUNCATION TEST (PTT)

      Human molecular genetics
    51. GUTMANN DH; SAPORITOIRWIN S; DECLUE JE; WIENECKE R; GUHA A
      ALTERATIONS IN THE RAP1 SIGNALING PATHWAY ARE COMMON IN HUMAN GLIOMAS

      Oncogene
    52. THOMSEN HS; LEVINE E; MEILSTRUP JW; VANSLYKE MA; EDGAR KA; BARTH JC; HARTMAN DS
      RENAL CYSTIC DISEASES

      European radiology
    53. LONGA L; SCOLARI F; BRUSCO A; CARBONARA C; POLIDORO S; VALZORIO B; RIEGLER P; MIGONE N; MAIORCA R
      A LARGE TSC2 AND PKD1 GENE DELETION IS ASSOCIATED WITH RENAL AND EXTRARENAL SIGNS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    54. GRIFFITHS PD; MARTLAND TR
      TUBEROUS SCLEROSIS COMPLEX - THE ROLE OF NEURORADIOLOGY

      Neuropediatrics
    55. LEVINE E; HARTMAN DS; MEILSTRUP JW; VANSLYKE MA; EDGAR KA; BARTH JC
      CURRENT CONCEPTS AND CONTROVERSIES IN IMAGING OF RENAL CYSTIC DISEASES

      Urologic clinics of North America
    56. HUNERBEIN R; REUTER P; SKUTTA B; LOHMER H; KUHN FP
      ACUTE ABDOMEN WITH PALPABLE RESISTANCE IN THE HYPOGASTRIUM AND KIDNEYPAIN

      Radiologe
    57. RODRIGUEZ JA; EVANS RL; DAIGER SP; NORTHRUP H
      MOLECULAR ANALYSIS OF THE HUMAN VITAMIN-D-BINDING-PROTEIN (GROUP-SPECIFIC COMPONENT, GC) IN TUBEROUS-SCLEROSIS-COMPLEX (TSC)

      Journal of Medical Genetics
    58. CURATOLO P
      NEUROLOGICAL MANIFESTATIONS OF TUBEROUS SCLEROSIS COMPLEX

      Child's nervous system
    59. LONGACRE TA; HENDRICKSON MR; KAPP DS; TENG NNH
      LYMPHANGIOLEIOMYOMATOSIS OF THE UTERUS SIMULATING HIGH-STAGE ENDOMETRIAL STROMAL SARCOMA

      Gynecologic oncology
    60. CHOYKE PL
      INHERITED CYSTIC DISEASES OF THE KIDNEY

      The Radiologic clinics of North America
    61. AU KS; MURRELL J; BUCKLER A; BLANTON SH; NORTHRUP H
      REPORT OF A CRITICAL RECOMBINATION FURTHER NARROWING THE TSC1 REGION

      Journal of Medical Genetics
    62. NEUMANN HPH; BRUGGEN V; BERGER DP; HERBST E; BLUM U; MORGENROTH A; SCHOLLMEYER P; WETTERAUER U
      TUBEROUS SCLEROSIS COMPLEX WITH END-STAGE RENAL-FAILURE

      Nephrology, dialysis, transplantation
    63. JOZWIAK S
      ONCOGENESIS IN TUBEROUS SCLEROSIS COMPLEX

      The Cancer journal
    64. GOMEZ MR
      HISTORY OF THE TUBEROUS SCLEROSIS COMPLEX

      Brain & development
    65. ZIMMERHACKL LB; REHM M; KAUFMEHL K; KURLEMANN G; BRANDIS M
      RENAL INVOLVEMENT IN TUBEROUS SCLEROSIS COMPLEX - A RETROSPECTIVE SURVEY

      Pediatric nephrology
    66. BALESTRI P; BARTALINI G; BIANCHI E; BOSIO M; BUTI D; CALISTRI L; CALVIERI S; CASADEI G; BERNARDINA BD; DECOSMO L; DENARDO V; DELGIUDICE E; DINELLI P; DORDI B; FAGGIOLI R; FARNETANI MA; FOIS A; FURCAS F; GABRIELE G; GALLI V; GELLI GP; GIORGI PL; LABUONORA GI; LANZA G; LECCHINI P; LOI M; LUNGAROTTI MS; LUXARDO P; MACCHERINI M; MORETTI M; NURCHI AM; PALLOTTA R; PALMIERI C; PECENCO G; PIATTELLA L; PISTONE FM; ROSATI C; ROSSI LN; RUSSO U; SALANI M; TADDEUCCI G; TINE A; VERDURA G; VIVARELLI R
      RESULTS OF THE COLLABORATIVE STUDY ON TUB EROUS SCLEROSIS COMPLEX (TSC) IN ITALY

      Rivista italiana di pediatria
    67. HIZAWA K; IIDA M; MATSUMOTO T; TOMINAGA M; HIROTA C; YAO T; FUJISHIMA M
      GASTROINTESTINAL INVOLVEMENT IN TUBEROUS SCLEROSIS - 2 CASE-REPORTS

      Journal of clinical gastroenterology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/21 alle ore 04:41:36