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

Genes, 2024-06, Vol.15 (6), p.715

Thompson, Miles D

2024

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

Genes, 2024-05, Vol.15 (5), p.619

2024

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Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

American journal of human genetics, 2012-07, Vol.91 (1), p.146-151

2012

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

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.40-13, Article 40

2020

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OX1 and OX2 orexin/hypocretin receptor pharmacogenetics

Frontiers in neuroscience, 2014-05, Vol.8, p.57-57

2014

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Orexin Receptor Multimerization versus Functional Interactions: Neuropharmacological Implications for Opioid and Cannabinoid Signalling and Pharmacogenetics

Pharmaceuticals (Basel, Switzerland), 2017-10, Vol.10 (4), p.79

2017

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

Genes, 2023-01, Vol.14 (2), p.359

2023

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G protein-coupled receptor mutations and human genetic disease

Methods in molecular biology (Clifton, N.J.), 2014-01, Vol.1175, p.153

2014

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Vitamin B₁₂ and the Risk of Neural Tube Defects in a Folic-Acid-Fortified Population

Epidemiology (Cambridge, Mass.), 2007-05, Vol.18 (3), p.362-366

2007

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Cysteinyl Leukotrienes Pathway Genes, Atopic Asthma and Drug Response: From Population Isolates to Large Genome-Wide Association Studies

Frontiers in pharmacology, 2016-12, Vol.7, p.299-299

2016

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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

European journal of medical genetics, 2020-04, Vol.63 (4), p.103822-103822, Article 103822

2020

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Pharmacogenetics of the G protein-coupled receptors

Methods in molecular biology (Clifton, N.J.), 2014-01, Vol.1175, p.189

2014

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Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome

Sub-cellular biochemistry, 2015, Vol.76, p.343

2015

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G protein-coupled receptor accessory proteins and signaling: pharmacogenomic insights

Methods in molecular biology (Clifton, N.J.), 2014-01, Vol.1175, p.121

2014

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Antiseizure effects of the cannabinoids in the amygdala‐kindling model

Epilepsia (Copenhagen), 2021-09, Vol.62 (9), p.2274-2282

2021

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Variation in the Serotonin Transporter Gene and Alcoholism: Risk and Response to Pharmacotherapy

Alcohol and alcoholism (Oxford), 2016-03, Vol.51 (2), p.164-171

2016

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G protein-coupled receptor (GPCR) pharmacogenomics

Critical reviews in clinical laboratory sciences, 2024-08, p.1-44

2024

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G protein-coupled receptor (GPCR) gene variants and human genetic disease

Critical reviews in clinical laboratory sciences, 2024-08, Vol.61 (5), p.317-346

2024

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Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity

Human mutation, 2016-07, Vol.37 (7), p.621-621

2016

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G protein-coupled receptors disrupted in human genetic disease

Methods in molecular biology (Clifton, N.J.), 2008, Vol.448, p.109

2008

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Cysteinyl-leukotrienes and their receptors in asthma and other inflammatory diseases: Critical update and emerging trends

Medicinal research reviews, 2007-07, Vol.27 (4), p.469-527

2007

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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

Human mutation, 2016-08, Vol.37 (8), p.737-744

2016

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Cellular signalling of cysteinyl leukotriene type 1 receptor variants CysLT1 -G300S and CysLT1 -I206S

Prostaglandins, leukotrienes and essential fatty acids, 2016-02, Vol.105, p.1-8

2016

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9. The anticonvulsant effects of cannabidiol examined in animal seizure models

Clinical neurophysiology, 2016-04, Vol.127 (4), p.e164-e164

2016

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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

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

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

OX1 and OX2 orexin/hypocretin receptor pharmacogenetics

Orexin Receptor Multimerization versus Functional Interactions: Neuropharmacological Implications for Opioid and Cannabinoid Signalling and Pharmacogenetics

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

G protein-coupled receptor mutations and human genetic disease

Vitamin B₁₂ and the Risk of Neural Tube Defects in a Folic-Acid-Fortified Population

Cysteinyl Leukotrienes Pathway Genes, Atopic Asthma and Drug Response: From Population Isolates to Large Genome-Wide Association Studies

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

Pharmacogenetics of the G protein-coupled receptors

Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome

G protein-coupled receptor accessory proteins and signaling: pharmacogenomic insights

Antiseizure effects of the cannabinoids in the amygdala‐kindling model

Variation in the Serotonin Transporter Gene and Alcoholism: Risk and Response to Pharmacotherapy

G protein-coupled receptor (GPCR) pharmacogenomics

G protein-coupled receptor (GPCR) gene variants and human genetic disease

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity

G protein-coupled receptors disrupted in human genetic disease

Cysteinyl-leukotrienes and their receptors in asthma and other inflammatory diseases: Critical update and emerging trends

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

Cellular signalling of cysteinyl leukotriene type 1 receptor variants CysLT1 -G300S and CysLT1 -I206S

9. The anticonvulsant effects of cannabidiol examined in animal seizure models

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