A. Organisation structurelle de la région 5' du gène de la thyroglobuline. B. Un élément de régulation négatif est-il impliqué dans l'expression type-cellulaire spécifique du gène de la thyroglobuline?

Doctorat en Sciencesinfo:eu-repo/semantics/nonPublishe

Peg3 and the conflict hypothesis

info:eu-repo/semantics/publishe

Single-nucleotide polymorphism genotyping by melting analysis of dual-labeled probes: examples using factor V Leiden and prothrombin 20210A mutations.

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A woman with recurrent "infections" since birth--a new mevalonate kinase mutation.

A tired 32-year-old woman complaining of tiredness was referred for work-up of a possible immune deficiency. She had a history of recurrent infections since birth, which usually responded to antibiotics within a few days. Her mother, a nurse, had reported that early charts had disappeared. Munchausen's by proxy was suspected for years. Careful anamnesis indicated possible recurrent fever. Serum IgD levels were high, which led us to suspect Hyper IgD Syndrome. Sequencing of the mevalonate kinase gene revealed 2 mutations, leading to amino acid substitutions: one already described (V3771) and R40W: never reported before. Mevalonate kinase activity was very low in the patient's peripheral blood cells. We used the "Poly Phen" prediction program successfully. Our experiments confirmed the diagnosis of mevalonate kinase deficiency. We used steroids to abort recurrent crises.Case ReportsJournal ArticleSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Gènes, hérédité et cancer colo-rectal.

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Genomic organization of the 5' region of the human thyroglobulin gene

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A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis.

Letterinfo:eu-repo/semantics/publishe

The TSH receptor and thyroid diseases.

Recent advances in the understanding of the molecular biology of the TSH receptor have had a considerable impact on several aspects of thyroidology. The identification and functional characterization of mutations in the TSH receptor gene which constitutively activate the TSH receptor in the absence of its ligand provide an explanation for the molecular mechanism which is most likely responsible for the majority of the hyperfunctioning thyroid adenomas. Moreover, these constitutively activating mutations also cause a new form of familial hyperthyroidism: non-autoimmune autosomal dominant hyperthyroidism and also sporadic cases of congenital non-autoimmune hyperthyroidism. TSH receptor mutations which cause a reduced sensitivity to TSH have been identified as the cause of non-autoimmune congenital hypothyroidism. TSH receptor mRNA variants have been found in thyroid associated ophthalmopathy. If protein expression for these variants can be demonstrated, this finding could advance our understanding of thyroid associated ophthalmopathy. The ability to produce large quantities of TSH receptor protein in bacteria has led to the generation of more sophisticated assays for TSH receptor antibodies and enabled the generation of an animal model for thyroid autoimmunity.Journal ArticleReviewinfo:eu-repo/semantics/publishe

The thyrotropin receptor and the regulation of thyrocyte function and growth: update 1994

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A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years.

Journal ArticleResearch Support, Non-U.S. Gov'tFLWINinfo:eu-repo/semantics/publishe