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Publications by Guido Bua

Two Novel Nonsense Mutations in GALNT3 Gene Are Responsible for Familial Tumoral Calcinosis

Journal of Human Genetics

English

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Idiopathic Tumoral Calcinosis.

American Journal of Roentgenology

Nuclear Medicine

English

Mutations in the PCYT1A Gene Are Responsible for Isolated Forms of Retinal Dystrophy

European Journal of Human Genetics

English

Two Novel Mutations Confirm FGD1 Is Responsible for the Aarskog Syndrome

European Journal of Human Genetics

English

Familial Tumoral Calcinosis: From Characterization of a Rare Phenotype to the Pathogenesis of Ectopic Calcification

Journal of Investigative Dermatology

Molecular Biology

English

Novel MEN1 Gene Mutations in Familial Multiple Endocrine Neoplasia Type 1

Journal of Human Genetics

English

A Mouse With an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis

Multidisciplinary

English

Identification of Two Mutations in Human Xanthine Dehydrogenase Gene Responsible for Classical Type I Xanthinuria.

Journal of Clinical Investigation

English

Newly Discovered Mutations in the GALNT3 Gene Causing Autosomal Recessive Hyperostosis-Hyperphosphatemia Syndrome

Acta Orthopaedica

Sports Medicine

English

Mutations in the Maternally Imprinted Gene MKRN3 Are Common in Familial Central Precocious Puberty

European Journal of Endocrinology

English