89 results on '"Pardi, Elena"'
Search Results
52. Novel association of MEN1 gene mutations with parathyroid carcinoma
53. Primary hyperparathyroidism due to atypical adenoma: clinical, biochemical and histological features of an Italian cohort
54. Exome analysis of a large family with familial isolated primary hyperparathyroidism (FIHP) and multiple cancers
55. Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas
56. Large genomic deletions inactivate the MEN1 gene in Multiple Endocrine Neoplasia (MEN1) families
57. A Prospective Study on Juvenile Primary Hyperparathyroidism Population
58. A prospective study on juvenile primary hyperprathyroidism population
59. Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple endocrine neoplasia type 4
60. Clinical profile of juvenile primary hyperparathyroidism: a prospective study.
61. First evidence of TRPV 5 and TRPV 6 channels in human parathyroid glands: possible involvement in neoplastic transformation
62. MEN1 gene alterations do not correlated with the pèhenotype of sporadic primary hyperparathyroidism
63. CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer
64. Genetic analysis ofAIPgenes in familial primary hyperparathyroidism
65. Genetic analysis ofCDKN1Bgene in familial primary hyperparathyroidism
66. Serum sclerostin and Dkk1 in patients with parathyroid disorders
67. A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype
68. A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia
69. Evaluation of formalin-fixed paraffin-embedded tissues in the proteomic analysis of parathyroid glands
70. A proteomic approach to study parathyroid glands
71. Persistent Secondary Hyperparathyroidism and Vertebral Fractures in Kidney Transplantation: Role of Calcium-Sensing Receptor Polymorphisms and Vitamin D Deficiency
72. Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia
73. HRPT2gene analysis and the diagnosis of parathyroid carcinoma
74. Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma?
75. Genetic Analyses of theHRPT2Gene in Primary Hyperparathyroidism: Germline and Somatic Mutations in Familial and Sporadic Parathyroid Tumors
76. Loss of p27 expression is associated with MEN1gene mutations in sporadic parathyroid adenomas
77. Parathyroid Expression of Calcium-Sensing Receptor Protein andin VivoParathyroid Hormone-Ca2+Set-Point in Patients with Primary Hyperparathyroidism1
78. Six novel MEN1 gene mutations in sporadic parathyroid tumors Communicated by: Richard G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #373 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/373.pdf
79. Six novelMEN1 gene mutations in sporadic parathyroid tumors
80. No Evidence for Mutations in the Calcium-Sensing Receptor Gene in Sporadic Parathyroid Adenomas
81. Functional characterization of a CDKN1Bmutation in a Sardinian kindred with multiple endocrine neoplasia type 4
82. Persistent Secondary Hyperparathyroidism and Vertebral Fractures in Kidney Transplantation: Role of Calcium-Sensing Receptor Polymorphisms and Vitamin D Deficiency.
83. HRPT2 gene analysis and the diagnosis of parathyroid carcinoma.
84. CDC73mutational status and loss of parafibromin in the outcome of parathyroid cancer
85. CDC73/HRPT2 mutations and parafibromin immunohistochemistry in a large series of sporadic parathyroid carcinomas and atypical adenomas
86. Familial hypocalciuric hypercalcemia associated with a novel homozygous loss-of-function mutation, E671D, of the calcium-sensing receptor gene
87. Gene expression profile in metastatic and non-metastatic parathyroid carcinoma
88. Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis.
89. Parathyroid Carcinoma and Adenoma Co-existing in One Patient: Case Report and Comparative Proteomic Analysis.
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