Isabella Torrente - Academia.edu (original) (raw)

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Papers by Isabella Torrente

Research paper thumbnail of Type 2 Deiodinase Polymorphism (Threonine 92 Alanine) Predicts l -Thyroxine Dose to Achieve Target Thyrotropin Levels in Thyroidectomized Patients

The Journal of Clinical Endocrinology & Metabolism, 2008

Context: Type 2 deiodinase (D2) converts T 4 in T 3 in several human tissues, including hypothala... more Context: Type 2 deiodinase (D2) converts T 4 in T 3 in several human tissues, including hypothalamus and pituitary, and, therefore, plays a pivotal role in the negative feedback regulation of TSH secretion. A common variant of the gene, threonine (Thr) 92 alanine (Ala), has been identified and associated with decreased D2 enzymatic activity.

Research paper thumbnail of Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

neurogenetics, 2011

We report the detailed clinical presentation and molecular features of a spinal neurofibromatosis... more We report the detailed clinical presentation and molecular features of a spinal neurofibromatosis familial case where a 40-year-old woman, presenting with multiple bilateral spinal neurofibromas and no other clinical feature of neurofibromatosis type 1 (NF1), inherited a paternal large multiexonic deletion (c.5944−?_7126+?del) which resulted in NF1 gene haploinsufficiency at the RNA level. In the clinically unaffected 73-year-old father, spinal cord MRI disclosed bilateral and symmetrical hypertrophy of spinal lumbosacral roots. Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder.

Research paper thumbnail of Type 2 Deiodinase Polymorphism (Threonine 92 Alanine) Predicts l -Thyroxine Dose to Achieve Target Thyrotropin Levels in Thyroidectomized Patients

The Journal of Clinical Endocrinology & Metabolism, 2008

Context: Type 2 deiodinase (D2) converts T 4 in T 3 in several human tissues, including hypothala... more Context: Type 2 deiodinase (D2) converts T 4 in T 3 in several human tissues, including hypothalamus and pituitary, and, therefore, plays a pivotal role in the negative feedback regulation of TSH secretion. A common variant of the gene, threonine (Thr) 92 alanine (Ala), has been identified and associated with decreased D2 enzymatic activity.

Research paper thumbnail of Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

neurogenetics, 2011

We report the detailed clinical presentation and molecular features of a spinal neurofibromatosis... more We report the detailed clinical presentation and molecular features of a spinal neurofibromatosis familial case where a 40-year-old woman, presenting with multiple bilateral spinal neurofibromas and no other clinical feature of neurofibromatosis type 1 (NF1), inherited a paternal large multiexonic deletion (c.5944−?_7126+?del) which resulted in NF1 gene haploinsufficiency at the RNA level. In the clinically unaffected 73-year-old father, spinal cord MRI disclosed bilateral and symmetrical hypertrophy of spinal lumbosacral roots. Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder.

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