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La ricerca find articoli where soggetti phrase all words 'neurofibromatosis type 1' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 425 riferimenti
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    1. Partsch, CJ; Sippell, WG
      Pathogenesis and epidemiology of precocious puberty. Effects of exogenous oestrogens

      HUMAN REPRODUCTION UPDATE
    2. Kaufmann, D; Tinschert, S; Algermissen, B
      Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern of the skin surface temperature?

      EUROPEAN JOURNAL OF DERMATOLOGY
    3. Sawabe, T; Horiuchi, T; Nakamura, M; Tsukamoto, H; Nakahara, K; Harashima, S; Tsuchiya, T; Nakano, S
      Defect of lck in a patient with common variable immunodeficiency

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    4. Gayre, GS; Scott, IU; Feuer, W; Saunders, TG; Siatkowski, RM
      Long-term visual outcome in patients with anterior visual pathway gliomas

      JOURNAL OF NEURO-OPHTHALMOLOGY
    5. Shao, CS; Stambrook, PJ; Tischfield, JA
      Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains

      NATURE GENETICS
    6. Costa, RM; Yang, T; Huynh, DP; Pulst, SM; Viskochil, DH; Silva, AJ; Brannan, CI
      Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1

      NATURE GENETICS
    7. Frindik, JP
      Pituitary morphologic anomalies and magnetic resonance imaging in pediatric growth hormone deficiency

      ENDOCRINOLOGIST
    8. Reilly, KM; Jacks, T
      Genetically engineered mouse models of astrocytoma: GEMs in the rough?

      SEMINARS IN CANCER BIOLOGY
    9. Shannon, KM; Le Beau, MM; Largaespada, DA; Killeen, N
      Modeling myeloid leukemia tumor suppressor gene inactivation in the mouse

      SEMINARS IN CANCER BIOLOGY
    10. Tuveson, DA; Fletcher, JA
      Signal transduction pathways in sarcoma as targets for therapeutic intervention

      CURRENT OPINION IN ONCOLOGY
    11. Lopez-Correa, C; Dorschner, M; Brems, H; Lazaro, C; Clementi, M; Upadhyaya, M; Dooijes, D; Moog, U; Kehrer-Sawatzki, H; Rutkowski, JL; Fryns, JP; Marynen, P; Stephens, K; Legius, E
      Recombination hotspot in NF1 microdeletion patients

      HUMAN MOLECULAR GENETICS
    12. Partsch, CJ; Sippell, WG
      Pathogenesis and epidemiology of precocious puberty. Effects of exogenous oestrogens

      APMIS
    13. Tedesco, MA; Di Salvo, G; Ratti, G; Natale, F; Calabrese, E; Grassia, C; Iacono, A; Lama, G
      Arterial distensibility and ambulatory blood pressure monitoring in young patients with neurofibromatosis type 1

      AMERICAN JOURNAL OF HYPERTENSION
    14. Bajenaru, ML; Donahoe, J; Corral, T; Reilly, KM; Brophy, S; Pellicer, A; Gutmann, DH
      Neurofibromatosis 1 (NF1) heterozygosity results in a cell-autonomous growth advantage for astrocytes

      GLIA
    15. Costi, R; Caruana, P; Sarli, L; Violi, V; Roncoroni, L; Bordi, C
      Ampullary adenocarcinoma in Neurofibromatosis Type 1. Case report and literature review

      MODERN PATHOLOGY
    16. Zhu, Y; Romero, MI; Ghosh, P; Ye, ZY; Charnay, P; Rushing, EJ; Marth, JD; Parada, LF
      Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain

      GENES & DEVELOPMENT
    17. Ng, YT; North, KN
      Visual-evoked potentials in the assessment of optic gliomas

      PEDIATRIC NEUROLOGY
    18. Rivarola, MA; Belgorosky, A; Mendilaharzu, H; Vidal, G
      Precocious puberty in children with tumours of the suprasellar and pineal areas: Organic central precocious puberty

      ACTA PAEDIATRICA
    19. Wilkinson, ID; Griffiths, PD; Wales, JKH
      Proton magnetic resonance spectroscopy of brain lesions in children with neurofibromatosis type 1

      MAGNETIC RESONANCE IMAGING
    20. Mori, H; Abe, O; Okubo, T; Hayashi, N; Yoshikawa, T; Kunimatsu, A; Yamada, H; Aoki, S; Ohtomo, K
      Diffusion property in a hamartomatous lesion of neurofibromatosis type 1

      JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY
    21. Bentivegna, A; Venturin, M; Gervasini, C; Corrado, L; Larizza, L; Riva, P
      Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers

      HUMAN GENETICS
    22. Kim, HA; Ratner, N; Roberts, TM; Stiles, CD
      Schwann cell proliferative responses to cAMP and Nf1 are mediated by cyclin D1

      JOURNAL OF NEUROSCIENCE
    23. Ramelli, GP; Slongo, T; Tschappeler, H; Weis, J
      Congenital pseudarthrosis of the ulna and radius in two cases of neurofibromatosis type 1

      PEDIATRIC SURGERY INTERNATIONAL
    24. Ding, H; Guha, A
      Mouse astrocytoma models: Embryonic stem cell mediated transgenesis

      JOURNAL OF NEURO-ONCOLOGY
    25. Plank, SM; Copeland-Yates, SA; Sossey-Alaoui, K; Bell, JM; Schroer, RJ; Skinner, C; Michaelis, RC
      Lack of association of the (AAAT)(6) allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Fang, LJ; Chalhoub, N; Li, WT; Feingold, J; Ortenberg, J; Lemieux, B; Thirion, JP
      Genotype analysis of the NF1 gene in the French Canadians from the Quebec population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Cichowski, K; Jacks, T
      NF1 tumor suppressor gene function: Narrowing the GAP

      CELL
    28. Dammeier, BG; Wehinger, H; Fuchs, J
      Early abdominal manifestation of neurofibromatosis type 1 (NF 1) in a 12-year-old boy

      ZENTRALBLATT FUR CHIRURGIE
    29. Jacquemin, C; Mullaney, P; Bosley, TM
      Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly

      NEURORADIOLOGY
    30. Jones, AP; Gunawardena, WJ; Coutinho, CMA
      H-1 MR spectroscopy evidence for the varied nature of asymptomatic focal brain lesions in neurofibromatosis type 1

      NEURORADIOLOGY
    31. Ruggieri, M; Packer, RJ
      Why do benign astrocytomas become malignant in NF1?

      NEUROLOGY
    32. Li, J; Perry, A; James, CD; Gutmann, DH
      Cancer-related gene expression profiles in NF1-associated pilocytic astrocytomas

      NEUROLOGY
    33. Yager, J; Richards, S; Hekmat-Scafe, DS; Hurd, DD; Sundaresan, V; Caprette, DR; Saxton, WM; Carlson, JR; Stern, M
      Control of Drosophila perineurial glial growth by interacting neurotransmitter-mediated signaling pathways

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    34. Ortiz, M; Falco, V; Sanchez, L; Ruiz, E; Cervera, C; Alegre, J; de Sevilla, TF
      Benignan and malignant tumours in patients with neurofibromatosis type 1

      MEDICINA CLINICA
    35. Blaydes, SM; Kogan, SC; Truong, BTH; Gilbert, DJ; Jenkins, NA; Copeland, NG; Largaespada, DA; Brannan, CI
      Retroviral integration at the Epi1 locus cooperates with Nf1 gene loss in the progression to acute myeloid leukemia

      JOURNAL OF VIROLOGY
    36. Muja, N; Blackman, SC; Le Breton, GC; DeVries, GH
      Identification and functional characterization of thromboxane A(2) receptors in Schwann cells

      JOURNAL OF NEUROCHEMISTRY
    37. Fang, LJ; Simard, MJ; Vidaud, D; Assouline, B; Lemieux, B; Vidaud, M; Chabot, B; Thirion, JP
      A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition

      JOURNAL OF MOLECULAR BIOLOGY
    38. Luijten, M; Fahsold, R; Mischung, C; Westerveld, A; Nurnberg, P; Hulsebos, TJM
      Limited contribution of interchromosomal gene conversion to NF1 gene mutation

      JOURNAL OF MEDICAL GENETICS
    39. Chang, KC; Chuang, NN
      GTPase stimulation in shrimp Ras(Q(61)K) with geranylgeranyl pyrophosphatebut not mammalian GAP

      JOURNAL OF EXPERIMENTAL ZOOLOGY
    40. Ingram, DA; Hiatt, K; King, AJ; Fisher, L; Shivakumar, R; Derstine, C; Wenning, MJ; Diaz, B; Travers, JB; Hood, A; Marshall, M; Williams, DA; Clapp, DW
      Hyperactivation of p21(ras) and the hematopoietic-specific Rho GTPase Rac2, cooperate to alter the proliferation of neurofibromin-deficient mast cells in vivo and in vitro

      JOURNAL OF EXPERIMENTAL MEDICINE
    41. Zhang, YY; Taylor, BR; Shannon, K; Clapp, DW
      Quantitative effects of Nf1 inactivation on in vivo hematopoiesis

      JOURNAL OF CLINICAL INVESTIGATION
    42. Dupuy, AJ; Morgan, K; von Lintig, FC; Shen, HF; Acar, H; Hasz, DE; Jenkins, NA; Copeland, NG; Boss, GR; Largaespada, DA
      Activation of the Rap1 guanine nucleotide exchange gene, CalDAG-GEF I, in BXH-2 murine myeloid leukemia

      JOURNAL OF BIOLOGICAL CHEMISTRY
    43. Tokuo, H; Yunoue, S; Feng, L; Kimoto, M; Tsuji, H; Ono, T; Saya, H; Araki, N
      Phosphorylation of neurofibromin by cAMP-dependent protein kinase is regulated via a cellular association of N-G,N-G-dimethylarginine dimethylaminohydrolase

      FEBS LETTERS
    44. Mashour, GA; Moulding, HD; Chalavi, A; Khan, GA; Rabkin, SD; Martuza, RL; Driever, PH; Kurtz, A
      Therapeutic efficacy of G207 in a novel peripheral nerve sheath tumor model

      EXPERIMENTAL NEUROLOGY
    45. Hirsch, NP; Murphy, A; Radcliffe, JJ
      Neurofibromatosis: clinical presentations and anaesthetic implications

      BRITISH JOURNAL OF ANAESTHESIA
    46. Parsa, CF; Hoyt, CS; Lesser, RL; Weinstein, JM; Strother, CM; Muci-Mendoza, R; Ramella, M; Manor, RS; Fletcher, WA; Repka, MX; Garrity, JA; Ebner, RN; Monteiro, MLR; McFadzean, RM; Rubtsova, IV; Hoyt, WF
      Spontaneous regression of optic gliomas - Thirteen cases documented by serial neuroimaging

      ARCHIVES OF OPHTHALMOLOGY
    47. Paller, AS
      Expanding our concepts of mosaic disorders of skin

      ARCHIVES OF DERMATOLOGY
    48. Rasmussen, SA; Yang, QH; Friedman, JM
      Mortality in neurofibromatosis 1: An analysis using US death certificates

      AMERICAN JOURNAL OF HUMAN GENETICS
    49. Nijenhuis, AVM; van der Aa, HE; Geelen, JAG; Havenith, MG
      Intracerebral haemorrhage in neurofibromatosis type I

      ACTA NEUROCHIRURGICA
    50. Guilford, P
      The inherited susceptibility to cancer

      CELLULAR AND MOLECULAR LIFE SCIENCES
    51. Mazzucchelli, C; Brambilla, R
      Ras-related and MAPK signalling in neuronal plasticity and memory formation

      CELLULAR AND MOLECULAR LIFE SCIENCES
    52. Scheele, JS; Rapple, D; Lubbert, M
      The role of Ras and other low molecular weight guanine nucleotide (GTP)-binding proteins during hematopoietic cell differentiation

      CELLULAR AND MOLECULAR LIFE SCIENCES
    53. Watanabe, T; Sakamoto, A; Tamiya, S; Oda, Y; Masuda, K; Tsuneyoshi, M
      H-ras-1 point mutation in malignant peripheral nerve sheath tumors: Polymerase chain reaction restriction fragment length polymorphism analysis and direct sequencing from paraffin-embedded tissues

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    54. Birnbaum, RA; O'Marcaigh, A; Wardak, Z; Zhang, YY; Dranoff, G; Jacks, T; Clapp, DW; Shannon, KM
      Nf1 and Gmcsf interact in myeloid leukemogenesis

      MOLECULAR CELL
    55. Reilly, KM; Loisel, DA; Bronson, RT; McLaughlin, ME; Jacks, T
      Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects

      NATURE GENETICS
    56. Messiaen, LM; Callens, T; Mortier, G; Beysen, D; Vandenbroucke, I; Van Roy, N; Speleman, F; De Paepe, A
      Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

      HUMAN MUTATION
    57. Wallace, MR; Rasmussen, SA; Lim, IT; Gray, BA; Zori, RT; Muir, D
      Culture of cytogenetically abnormal Schwann cells from benign and malignant NFI tumors

      GENES CHROMOSOMES & CANCER
    58. Vogel, KS; El-Afandi, M; Parada, LF
      Neurofibromin negatively regulates neurotrophin signaling through p21(ras)in embryonic sensory neurons

      MOLECULAR AND CELLULAR NEUROSCIENCE
    59. Parisi, MA; Sybert, VP
      Molecular genetics in pediatric dermatology

      CURRENT OPINION IN PEDIATRICS
    60. Luijten, M; Wang, YP; Smith, BT; Westerveld, A; Smink, LJ; Dunham, I; Roe, BA; Hulsebos, TJM
      Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22

      EUROPEAN JOURNAL OF HUMAN GENETICS
    61. Siffert, J; Allen, JC
      Late effects of therapy of thalamic and hypothalamic tumors in childhood: Vascular, neurobehavioral and neoplastic

      PEDIATRIC NEUROSURGERY
    62. Schmandt, SM; Packer, RJ; Vezina, LG; Jane, J
      Spontaneous regression of low-grade astrocytomas in childhood

      PEDIATRIC NEUROSURGERY
    63. Prakash, SK; Paylor, R; Jenna, S; Lamarche-Vane, N; Armstrong, DL; Xu, BS; Mancini, MA; Zoghbi, HY
      Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA

      HUMAN MOLECULAR GENETICS
    64. Dorschner, MO; Sybert, VP; Weaver, M; Pletcher, BA; Stephens, K
      NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

      HUMAN MOLECULAR GENETICS
    65. Fossali, E; Signorini, E; Intermite, RC; Casalini, E; Lovaria, A; Maninetti, MM; Rossi, LN
      Renovascular disease and hypertension in children with neurofibromatosis

      PEDIATRIC NEPHROLOGY
    66. Jenne, DE; Tinschert, S; Stegmann, E; Reimann, H; Nurnberg, P; Horn, D; Naumann, I; Buske, A; Thiel, G
      A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions

      GENOMICS
    67. Shuper, A; Kornreich, L; Michowitz, S; Schwartz, M; Yaniv, I; Cohen, IJ
      Visual pathway tumors and hydrocephalus

      PEDIATRIC HEMATOLOGY AND ONCOLOGY
    68. Maheshwari, SR; Fatterpekar, GM; Castillo, M; Mukherji, SK
      Proton MR spectroscopy of the brain

      SEMINARS IN ULTRASOUND CT AND MRI
    69. Szudek, J; Birch, P; Riccardi, VM; Evans, DG; Friedman, JM
      Associations of clinical features in neurofibromatosis 1 (NF1)

      GENETIC EPIDEMIOLOGY
    70. Givogri, MI; Bongarzone, ER; Campagnoni, AT
      New insights on the biology of myelin basic protein gene: The neural-immune connection

      JOURNAL OF NEUROSCIENCE RESEARCH
    71. Magro, G; Piana, M; Venti, C; Lacagnina, A; Ruggieri, M
      Solitary neurofibroma of the mesentery: Report of a case and review of theliterature

      PATHOLOGY RESEARCH AND PRACTICE
    72. Wimmer, K; Eckart, M; Rehder, H; Fonatsch, C
      Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

      HUMAN GENETICS
    73. Grill, J; Laithier, V; Rodriguez, D; Raquin, MA; Pierre-Kahn, A; Kalifa, C
      When do children with optic pathway tumours need treatment? An oncologicalperspective in 106 patients treated in a single centre

      EUROPEAN JOURNAL OF PEDIATRICS
    74. Ruggieri, M; D'Arrigo, G; Abbate, M; Distefano, A; Upadhyaya, M
      Multiple coronary artery aneurysms in a child with neurofibromatosis type 1

      EUROPEAN JOURNAL OF PEDIATRICS
    75. Pummi, K; Yla-Outinen, H; Peltonen, J
      Oscillation and rapid changes of NF1 mRNA steady-state levels in cultured human keratinocytes

      ARCHIVES OF DERMATOLOGICAL RESEARCH
    76. Virdis, R; Sigorini, M; Laiolo, A; Lorenzetti, E; Street, ME; Villani, AR; Donadio, A; Pisani, F; Terzi, C; Garavelli, L
      Neurofibromatosis type 1 and precocious puberty

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    77. Drake, AJ; Lowis, SP; Bouffet, E; Crowne, EC
      Growth hormone hypersecretion in a girl with neurofibromatosis type 1 and an optic nerve glioma: Resolution following chemotherapy

      HORMONE RESEARCH
    78. Ramelli, GP; Slongo, T; Weis, J; Tschappler, H; Vassella, F
      Pseudarthrosis in neurofibromatosis type 1

      KLINISCHE PADIATRIE
    79. Drimmie, FM; Maclennan, AC; Nicoll, JAR; Simpson, E; McNeill, E; Donaldson, MDC
      Gigantism due to growth hormone excess in a boy with optic glioma

      CLINICAL ENDOCRINOLOGY
    80. Vinchon, M; Soto-Ares, G; Ruchoux, MM; Dhellemmes, P
      Cerebellar gliomas in children with NF1: pathology and surgery

      CHILDS NERVOUS SYSTEM
    81. Varlet, P; Beuvon, F; Fallet-Bianco, C; Daumas-Duport, C
      Dysembryoplastic neuroepithelial tumors

      ANNALES DE PATHOLOGIE
    82. Origone, P; Bonioli, E; Panucci, E; Costabel, S; Ajmar, F; Coviello, DA
      The Genoa experience of prenatal diagnosis in NF1

      PRENATAL DIAGNOSIS
    83. Ball, WS
      Pediatric neuroradiology

      AMERICAN JOURNAL OF NEURORADIOLOGY
    84. Tsao, H
      Update on familial cancer syndromes and the skin

      JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
    85. Pascual-Castroviejo, I; Pascual-Pascual, SI; Viano, J; Martinez, V
      Generalized nerve sheath tumors in neurofibromatosis type 1 (NF1) - A casereport

      NEUROPEDIATRICS
    86. Toliat, MR; Erdogan, F; Gewies, A; Fahsold, R; Buske, A; Tinschert, S; Nurnberg, P
      Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b

      ELECTROPHORESIS
    87. Sener, RN
      Septum pellucidum hamartomas in neurofibromatosis type 1

      JOURNAL OF NEURORADIOLOGY
    88. Lin, AE; Birch, PH; Korf, BR; Tenconi, B; Niimura, M; Poyhonen, M; Uhas, KA; Sigorini, M; Virdis, R; Romano, C; Bonioli, E; Wolkenstein, P; Pivnick, EK; Lawrence, M; Friedman, JM
      Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

      AMERICAN JOURNAL OF MEDICAL GENETICS
    89. Riccardi, VM
      Growth curves for height and head circumference

      AMERICAN JOURNAL OF MEDICAL GENETICS
    90. Honavar, SG; Singh, AD; Shields, CL; Shields, JA; Eagle, RC
      Iris melanoma in a patient with neurofibromatosis

      SURVEY OF OPHTHALMOLOGY
    91. Sidbury, R; Paller, AS
      Dermatologic clues to inherited disease

      PEDIATRIC CLINICS OF NORTH AMERICA
    92. Balkhoyor, KB; Bernstein, M
      Involution of diencephalic pilocytic astrocytoma after partial resection -Report of two cases in adults

      JOURNAL OF NEUROSURGERY
    93. John, AM; Ruggieri, M; Ferner, R; Upadhyaya, M
      A search for evidence of somatic mutations in the NF1 gene

      JOURNAL OF MEDICAL GENETICS
    94. Koivunen, J; Yla-Outinen, H; Korkiamaki, T; Karvonen, SL; Poyhonen, M; Laato, M; Karvonen, J; Peltonen, S; Peltonen, J
      New function for NF1 tumor suppressor

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    95. Ingram, DA; Yang, FC; Travers, JB; Wenning, MJ; Hiatt, K; New, S; Hood, A; Shannon, K; Williams, DA; Clapp, DW
      Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo

      JOURNAL OF EXPERIMENTAL MEDICINE
    96. Casey, M; Vaughan, CJ; He, J; Hatcher, CJ; Winter, JM; Weremowicz, S; Montgomery, K; Kucherlapati, R; Morton, CC; Basson, CT
      Mutations in the protein kinase A R1 alpha regulatory subunit cause familial cardiac myxomas and Carney complex

      JOURNAL OF CLINICAL INVESTIGATION
    97. Gonzalez-Martin, J; Glover, S; Dixon, S; Fryer, A; Carty, H; Smith, C; Kaye, SB; Verbov, J
      Neurofibromatosis type 1 and McCune-Albright syndrome occurring in the same patient

      BRITISH JOURNAL OF DERMATOLOGY
    98. Cooper, LJN; Shannon, KM; Loken, MR; Weaver, M; Stephens, K; Sievers, EL
      Evidence that juvenile myelomonocytic leukemia can arise from a pluripotential stem cell

      BLOOD
    99. Silva, AJ; Elgersma, Y; Costa, RM
      Molecular and cellular mechanisms of cognitive function: Implications for psychiatric disorders

      BIOLOGICAL PSYCHIATRY
    100. Correa, CL; Brems, H; Lazaro, C; Marynen, P; Legius, E
      Unequal meiotic crossover: A frequent cause of NF1 microdeletions

      AMERICAN JOURNAL OF HUMAN GENETICS


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Documento generato il 08/08/20 alle ore 14:55:32