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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Nature genetics, 2004-04, Vol.36 (4), p.339-341

2004

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The man behind the honors Dr. P. M. MacLeod MD FRCPC FCCMG DABG

Birth defects research, 2020-07, Vol.112 (12), p.890-892

MacLeod, Patrick M.

2020

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SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases

Progress in neuro-psychopharmacology & biological psychiatry, 2024-02, Vol.129, p.110888-110888, Article 110888

2024

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Orphanet journal of rare diseases, 2013-03, Vol.8 (1), p.41-41

2013

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Early Gastric Cancer in Young, Asymptomatic Carriers of Germ-Line E-Cadherin Mutations

The New England journal of medicine, 2001-06, Vol.344 (25), p.1904-1909

2001

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Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

American journal of human genetics, 2007-01, Vol.80 (1), p.152-161

2007

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Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3087-3092

2017

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Longevity in Rett Syndrome: Analysis of the North American Database

The Journal of pediatrics, 2010, Vol.156 (1), p.135-138.e1

2010

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Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

Journal of lipid research, 2001-07, Vol.42 (7), p.1134-1142

2001

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Loss of tyrosine hydroxylase, motor deficits and elevated iron in a mouse model of phospholipase A2G6-associated neurodegeneration (PLAN)

Brain research, 2020-12, Vol.1748, p.147066-147066, Article 147066

2020

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Rett syndrome: review of biological abnormalities

Canadian journal of neurological sciences, 2001-02, Vol.28 (1), p.16-29

2001

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Inverted duplication with terminal deletion of 5p and no cat‐like cry

American journal of medical genetics. Part A, 2008-05, Vol.146A (9), p.1173-1179

2008

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Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.372-379

2009

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Effects of age and gender on adolescents' food habits and preferences

Food quality and preference, 1996-07, Vol.7 (3), p.251-262

1996

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Systemic Biomarkers Show Elevated Oxidative Stress and Chronic Inflammation in Two Disorders of Neurodegeneration with Brain Iron Accumulation (NBIA)

Blood, 2017-12, Vol.130 (Suppl_1), p.943-943

2017

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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2 -related disorders

Journal of medical genetics, 2018-05, Vol.55 (5), p.316-321

2018

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A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD

American journal of medical genetics, 2003-10, Vol.122A (2), p.139-147

2003

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From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

Scientific reports, 2016-12, Vol.6 (1), p.38590-38590, Article 38590

2016

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F104CHROMOSOMAL MICROARRAYS IMPLICATE GENES REGULATING DENDRITOGENESIS – POTENTIAL IMPLICATIONS FOR PRECISION MEDICINE IN BIPOLAR DISORDER AND SCHIZOPHRENIA

European neuropsychopharmacology, 2019, Vol.29, p.S1165-S1166

2019

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Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey

BMJ, 2009-06, Vol.338 (jun08 3), p.b2175-b2175

International edition, 2009

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One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2

Journal of the neurological sciences, 2020-02, Vol.409, p.116586-116586, Article 116586

2020

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Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1

Clinical genetics, 1999-03, Vol.55 (3), p.173-181

1999

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247 - Multiplex Multiple Reaction Monitoring (MRM) Proteomic Investigation Reveals Altered Iron Trafficking and Elevated Systemic Oxidative Stress (OS) and Inflammatory Biomarkers in a Patient with Neurodegeneration with Brain Iron Accumulation (NBIA)

Free radical biology & medicine, 2014-11, Vol.76, p.S106-S106

2014

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Multiplex Multiple Reaction Monitoring (MRM) Proteomic Investigation Reveals Altered Iron Trafficking and Elevated Systemic Oxidative Stress (OS) and Inflammatory Biomarkers in a Patient with Neurodegeneration with Brain Iron Accumulation (NBIA)

Free radical biology & medicine, 2014-11, Vol.76, p.S106

2014

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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

The man behind the honors Dr. P. M. MacLeod MD FRCPC FCCMG DABG

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Early Gastric Cancer in Young, Asymptomatic Carriers of Germ-Line E-Cadherin Mutations

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

Longevity in Rett Syndrome: Analysis of the North American Database

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Loss of tyrosine hydroxylase, motor deficits and elevated iron in a mouse model of phospholipase A2G6-associated neurodegeneration (PLAN)

Rett syndrome: review of biological abnormalities

Inverted duplication with terminal deletion of 5p and no cat‐like cry

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

Effects of age and gender on adolescents' food habits and preferences

Systemic Biomarkers Show Elevated Oxidative Stress and Chronic Inflammation in Two Disorders of Neurodegeneration with Brain Iron Accumulation (NBIA)

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2 -related disorders

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

F104CHROMOSOMAL MICROARRAYS IMPLICATE GENES REGULATING DENDRITOGENESIS – POTENTIAL IMPLICATIONS FOR PRECISION MEDICINE IN BIPOLAR DISORDER AND SCHIZOPHRENIA

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1

247 - Multiplex Multiple Reaction Monitoring (MRM) Proteomic Investigation Reveals Altered Iron Trafficking and Elevated Systemic Oxidative Stress (OS) and Inflammatory Biomarkers in a Patient with Neurodegeneration with Brain Iron Accumulation (NBIA)

Multiplex Multiple Reaction Monitoring (MRM) Proteomic Investigation Reveals Altered Iron Trafficking and Elevated Systemic Oxidative Stress (OS) and Inflammatory Biomarkers in a Patient with Neurodegeneration with Brain Iron Accumulation (NBIA)

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