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Publications by P. S. Thornton

Hyperinsulinism Caused by Paternal-Specific Inheritance of a Recessive Mutation in the Sulfonylurea-Receptor Gene

Internal Medicine

English

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Novel De Novo Mutation in Sulfonylurea Receptor 1 Presenting as Hyperinsulinism in Infancy Followed by Overt Diabetes in Early Adolescence

Internal Medicine

English

Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the -Cell Sulfonylurea Receptor SUR1

Internal Medicine

English

Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene

Experimental Dermatology

Molecular Biology

English

Keratoendotheliitis Fugax Hereditaria Is Caused by a Mutation in the NLRP3 Gene

Acta Ophthalmologica

English

Sulfonylureas Correct Trafficking Defects of ATP-sensitive Potassium Channels Caused by Mutations in the Sulfonylurea Receptor

Journal of Biological Chemistry

Molecular Biology

English

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

American Journal of Human Genetics

English

Gillespiе Syndrome, Caused by Previously Undescribed Mutation in the Gene ITPR1

Russkii Zhunal Detskoi Nevrologii

English

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Zahedan Journal of Research in Medical Sciences

English