Miles Thompson

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Krembil Research Institute

Canada

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Gene Discovery in Mabry syndrome (OMIM 239300)

Open Date: 2012-01-01

Close Date: 2014-12-01

Articles (7)

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2024

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2024

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2023

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2021

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2020

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2020

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2020

Collaborators (2)

Thomas O Carpenter

Yale University School of Medicine

UNITED STATES

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Danielle M. Andrade

UNITED STATES

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Miles Thompson

Research Interests

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Contact this professor

Recent Grants

Articles (7)

Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases

Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders

Excluding Digenic Inheritance of <i>PGAP2</i> and <i>PGAP3</i> Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with <i>PGAP2</i> Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).

Antiseizure effects of the cannabinoids in the amygdala-kindling model

50 Years Ago in THE JOURNAL OF PEDIATRICS: Familial Hyperphosphatasia with Mental Retardation, Seizures, and Neurologic Deficits

A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Collaborators (2)

Thomas O Carpenter

Danielle M. Andrade

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