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Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number

American journal of human genetics, 1998-12, Vol.63 (6), p.1712-1723

1998

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The Survival Motor Neuron Protein in Spinal Muscular Atrophy

Human molecular genetics, 1997-08, Vol.6 (8), p.1205-1214

1997

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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

American journal of human genetics, 1997-06, Vol.60 (6), p.1411-1422

1997

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Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy

The New England journal of medicine, 1995-09, Vol.333 (13), p.832-838

1995

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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Journal of medical genetics, 2007-10, Vol.44 (10), p.621-628

2007

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An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene

Human molecular genetics, 1996-11, Vol.5 (11), p.1727-1732

1996

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Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis

Journal of medical genetics, 1998-08, Vol.35 (8), p.674-676

1998

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THE INCIDENCE OF THE GENE FOR THERMOLABILE METHYLENE TETRAHYDROFOLATE REDUCTASE IN AFRICAN AMERICANS

Thrombosis research, 1996-07, Vol.83 (2), p.195-198

1996

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Novel receptor protein tyrosine phosphatase (RPTPρ) and acidic fibroblast growth factor (FGF-1) transcripts delineate a rostrocaudal boundary in the granule cell layer of the murine cerebellar cortex

Journal of comparative neurology (1911), 1998-02, Vol.391 (4), p.444-455

1998

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Identification and characterization of RPTP ρ, a novel RPTP μ/ κ-like receptor protein tyrosine phosphatase whose expression is restricted to the central nervous system

Brain research. Molecular brain research., 1998-05, Vol.56 (1), p.9-21

1998

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Amiloride-sensitive sodium-hydrogen exchange in osmotically shrunken rabbit red blood cells

American Journal of Physiology: Cell Physiology, 1986-07, Vol.251 (1), p.C32-C40

1986

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A hazard with the Abbott Provider 5500

Anaesthesia, 1995-09, Vol.50 (9), p.829-829

McAndrew, P.E.

1995

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Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Neurogenetics, 1997-11, Vol.1 (2), p.141-147

1997

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Differential diagnosis of hereditary hemochromatosis from other liver disorders by genetic analysis: gene mutation analysis of patients previously diagnosed with hemochromatosis by liver biopsy

Archives of pathology & laboratory medicine (1976), 1998-07, Vol.122 (7), p.633

1998

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Amiloride-sensitive sodium-hydrogen exchange in osmotically shrunken rabbit red blood cells

American Journal of Physiology: Cell Physiology, 1986, Vol.20 (1), p.C32-C40

1986

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Rapid and robust screening of the Menkes disease/occipital horn syndrome gene

Genetic testing, 2002-12, Vol.6 (4), p.255-260

2002

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Effect of Depth and Duration of Cooling on Death or Disability at Age 18 Months Among Neonates With Hypoxic-Ischemic Encephalopathy: A Randomized Clinical Trial

JAMA : the journal of the American Medical Association, 2017-07, Vol.318 (1), p.57

2017

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Five-Year Outcomes after PCI or CABG for Left Main Coronary Disease

The New England journal of medicine, 2019-11, Vol.381 (19), p.1820-1830

2019

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Everolimus-Eluting Stents or Bypass Surgery for Left Main Coronary Artery Disease

The New England journal of medicine, 2016-12, Vol.375 (23), p.2223-2235

2016

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Biochemical and Structural Studies of NADH-Dependent FabG Used To Increase the Bacterial Production of Fatty Acids under Anaerobic Conditions

Applied and Environmental Microbiology, 2014-01, Vol.80 (2), p.497-505

2014

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Demonstrating In-Cell Target Engagement Using a Pirin Protein Degradation Probe (CCT367766)

Journal of medicinal chemistry, 2018-02, Vol.61 (3), p.918-933

2018

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Effect of Alendronic Acid on Fracture Healing: A Multicenter Randomized Placebo‐Controlled Trial

Journal of bone and mineral research, 2019-06, Vol.34 (6), p.1025-1032

2019

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Impact of large periprocedural myocardial infarction on mortality after percutaneous coronary intervention and coronary artery bypass grafting for left main disease: an analysis from the EXCEL trial

European heart journal, 2019-06, Vol.40 (24), p.1930-1941

2019

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Acute myocardial infarction activates distinct inflammation and proliferation pathways in circulating monocytes, prior to recruitment, and identified through conserved transcriptional responses in mice and humans

European heart journal, 2015-08, Vol.36 (29), p.1923-1934

2015

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Mouse Genome Database (MGD) 2019

Nucleic acids research, 2019-01, Vol.47 (D1), p.D801

2019

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Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number

The Survival Motor Neuron Protein in Spinal Muscular Atrophy

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy

Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis

THE INCIDENCE OF THE GENE FOR THERMOLABILE METHYLENE TETRAHYDROFOLATE REDUCTASE IN AFRICAN AMERICANS

Novel receptor protein tyrosine phosphatase (RPTPρ) and acidic fibroblast growth factor (FGF-1) transcripts delineate a rostrocaudal boundary in the granule cell layer of the murine cerebellar cortex

Identification and characterization of RPTP ρ, a novel RPTP μ/ κ-like receptor protein tyrosine phosphatase whose expression is restricted to the central nervous system

Amiloride-sensitive sodium-hydrogen exchange in osmotically shrunken rabbit red blood cells

A hazard with the Abbott Provider 5500

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Differential diagnosis of hereditary hemochromatosis from other liver disorders by genetic analysis: gene mutation analysis of patients previously diagnosed with hemochromatosis by liver biopsy

Amiloride-sensitive sodium-hydrogen exchange in osmotically shrunken rabbit red blood cells

Rapid and robust screening of the Menkes disease/occipital horn syndrome gene

Effect of Depth and Duration of Cooling on Death or Disability at Age 18 Months Among Neonates With Hypoxic-Ischemic Encephalopathy: A Randomized Clinical Trial

Five-Year Outcomes after PCI or CABG for Left Main Coronary Disease

Everolimus-Eluting Stents or Bypass Surgery for Left Main Coronary Artery Disease

Biochemical and Structural Studies of NADH-Dependent FabG Used To Increase the Bacterial Production of Fatty Acids under Anaerobic Conditions

Demonstrating In-Cell Target Engagement Using a Pirin Protein Degradation Probe (CCT367766)

Effect of Alendronic Acid on Fracture Healing: A Multicenter Randomized Placebo‐Controlled Trial

Impact of large periprocedural myocardial infarction on mortality after percutaneous coronary intervention and coronary artery bypass grafting for left main disease: an analysis from the EXCEL trial

Acute myocardial infarction activates distinct inflammation and proliferation pathways in circulating monocytes, prior to recruitment, and identified through conserved transcriptional responses in mice and humans

Mouse Genome Database (MGD) 2019

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