Lista de obras - C Phillip Morris - Dominio Público Uruguay

A DRD2 and ANKK1 haplotype is associated with nicotine dependence

artículo científico publicado en 2012

A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases ⬇️

artículo científico publicado el 1 de diciembre de 1992

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype

artículo científico publicado en 1992

A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease

artículo científico publicado en 1994

A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset: HapMap tag-single-nucleotide polymorphism analysis

artículo científico publicado en 2011

A novel SNP in COMT is associated with alcohol dependence but not opiate or nicotine dependence: a case control study ⬇️

artículo científico publicado el 31 de diciembre de 2011

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene

scientific article published on 01 January 1996

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.

artículo científico publicado en 1995

Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome

artículo científico publicado en 1997

Accelerated DNA methylation aging and increased resilience in veterans: The biological cost for soldiering on.

artículo científico publicado en 2018

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus

scientific article published on 01 December 1992

An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype

artículo científico publicado en 1992

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy

artículo científico publicado en 1993

Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia.

artículo científico publicado en 2010

Association of NOS1AP variants and depression phenotypes in schizophrenia

artículo científico publicado en 2015

BDNF SNPs are implicated in comorbid alcohol dependence in schizophrenia but not in alcohol-dependent patients without schizophrenia

artículo científico publicado en 2014

Brain-derived neurotrophic factor ( BDNF) gene: no major impact on antidepressant treatment response

artículo científico publicado en 2009

Cannabinoid receptor 1 (CNR1) gene: impact on antidepressant treatment response and emotion processing in major depression.

artículo científico publicado en 2008

Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

article

Cigarette smoking in young adults: the influence of the HTR2A T102C polymorphism and punishment sensitivity.

artículo científico publicado en 2010

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

artículo científico publicado en 1995

Correction of alpha-L-fucosidase deficiency in fucosidosis fibroblasts by retroviral vector-mediated gene transfer

artículo científico publicado el 1 de agosto de 1992

Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation

scientific article published on 01 September 1990

DRD2 C957T and TaqIA Genotyping Reveals Gender Effects and Unique Low-Risk and High-Risk Genotypes in Alcohol Dependence

artículo científico publicado en 2012

DRD2/ANKK1 Taq1A (rs 1800497 C>T) genotypes are associated with susceptibility to second generation antipsychotic-induced akathisia.

artículo científico publicado en 2012

Dopamine D₃ receptor gene variation: impact on electroconvulsive therapy response and ventral striatum responsiveness in depression.

artículo científico publicado en 2011

Dysbindin (DTNBP1) variants are associated with hallucinations in schizophrenia.

artículo científico publicado en 2015

Dysbindin (DTNBP1)--a role in psychotic depression?

artículo científico publicado en 2011

Effect of fatty acids, glucose, and insulin on hepatic glucose uptake and glycolysis

artículo científico publicado en 2006

Epigenetic analysis confirms no accelerated brain aging in schizophrenia

artículo científico publicado en 2017

Expression analysis of a human hepatic cell line in response to palmitate.

artículo científico publicado en 2005

Gene amplification directly from Guthrie blood spots

scientific article published on 01 December 1990

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe

scientific article published on 01 January 1992

Genetic mapping of new RFLPs at Xq27–q28

artículo científico publicado en 1991

Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes

scientific article published on 01 April 1992

Genome-wide DNA methylation analysis of human brain tissue from schizophrenia patients.

artículo científico publicado en 2014

Haemochromatosis and HLA-H.

artículo científico publicado en 1996

HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association

artículo científico publicado en 2010

Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.

artículo científico publicado en 1991

Human alpha-L-iduronidase: cDNA isolation and expression

scientific journal article

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

artículo científico publicado en 1991

Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo - in vitro approach

artículo científico publicado en 2007

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)

artículo científico publicado en 1993

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

artículo científico publicado en 1998

In vitro differentiation of human calvarial suture derived cells with and without dexamethasone does not induce in vivo-like expression

artículo científico publicado en 2009

Interaction between DRD2 C957T polymorphism and an acute psychosocial stressor on reward-related behavioral impulsivity.

artículo científico publicado en 2009

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

scientific article published on 08 October 2019

Interrogation of multimeric DNA amplification products by competitive primer extension using bst DNA polymerase (large fragment)

artículo científico publicado en 2001

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

artículo científico publicado en 1992

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

scientific article published on 01 January 1993

Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene

artículo científico publicado en 1994

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

scientific article published on 01 June 1992

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene

artículo científico publicado en 1993

Molecular genetics of metachromatic leukodystrophy

artículo científico publicado en 1994

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

artículo científico publicado en 1995

Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene

artículo científico publicado en 1994

Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele

artículo científico publicado en 1992

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients

artículo científico publicado en 1994

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

artículo científico publicado en 1993

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations

artículo científico publicado en 1994

Mutation analysis of 28 Gaucher disease patients: the Australasian experience

scientific article published on 01 January 1994

Mutation analysis of Australasian Gaucher disease patients

artículo científico publicado en 1995

NOS1AP is associated with increased severity of PTSD and depression in untreated combat veterans

artículo científico publicado en 2012

Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience.

artículo científico publicado en 1994

Neural regulation of muscarinic receptors in chick expansor secundariorum muscle

scientific article published in Nature

PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene

artículo científico publicado el 1 de noviembre de 1992

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease ⬇️

artículo científico publicado el 25 de noviembre de 1991

PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility

artículo científico publicado en 2006

Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision

artículo científico publicado en 2011

Population frequency of the arylsulphatase A pseudo-deficiency allele

artículo científico publicado en 1991

Progress towards understanding the genetics of posttraumatic stress disorder

artículo científico publicado en 2014

Pyruvate carboxylase in the yeast pyc mutant

scientific article published on 01 October 1987

Regulation of human hepatocyte gene expression by fatty acids.

artículo científico

Relationship Among CFH and ARMS2 Genotypes, Macular Pigment Optical Density, and Neuroretinal Function in Persons Without Age-Related Macular Degeneration

artículo científico publicado en 2012

Reply to Migeon.

artículo científico publicado en 1993

SNP technologies for drug discovery: a current review.

artículo científico publicado en 2008

Sequence and domain structure of yeast pyruvate carboxylase

artículo científico publicado en 1988

Solid-phase amplification and detection: a single-tube diagnostic assay for infectious agents.

artículo científico publicado en 2001

Structure and sequence of the human alpha-L-iduronidase gene

artículo científico publicado el 1 de agosto de 1992

The DRD2 gene 957C>T polymorphism is associated with posttraumatic stress disorder in war veterans

artículo científico publicado en 2009

The Effect of BCMO1 Gene Variants on Macular Pigment Optical Density in Young Healthy Caucasians.

artículo científico publicado en 2014

The challenge of predicting macular degeneration

artículo científico publicado en 2011

The factor V HR2 haplotype: prevalence and association of the A4070G and A6755G polymorphisms.

artículo científico publicado en 2001

The frequency of the common (delta F508) cystic fibrosis mutation in the Australian population

artículo científico publicado en 1990

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

article

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3

artículo científico publicado en 1993

The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.

artículo científico publicado en 1990

The relationship between BCMO1 gene variants and macular pigment optical density in persons with and without age-related macular degeneration

artículo científico publicado en 2014

The terminal structures of feather keratin mRNA

artículo científico publicado en 1979

Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein

artículo científico publicado en 1995

Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis

artículo científico publicado en 2007

Visual function and risk genotypes in maternally inherited diabetes and deafness.

artículo científico publicado en 2013

Yeast pyruvate carboxylase: gene isolation

artículo científico publicado en 1987

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype

artículo científico publicado en 1992

Lista de obras de C Phillip Morris

A DRD2 and ANKK1 haplotype is associated with nicotine dependence

A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases ⬇️

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype

A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease

A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset: HapMap tag-single-nucleotide polymorphism analysis

A novel SNP in COMT is associated with alcohol dependence but not opiate or nicotine dependence: a case control study ⬇️

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.

Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome

Accelerated DNA methylation aging and increased resilience in veterans: The biological cost for soldiering on.

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus

An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy

Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia.

Association of NOS1AP variants and depression phenotypes in schizophrenia

BDNF SNPs are implicated in comorbid alcohol dependence in schizophrenia but not in alcohol-dependent patients without schizophrenia

Brain-derived neurotrophic factor ( BDNF) gene: no major impact on antidepressant treatment response

Cannabinoid receptor 1 (CNR1) gene: impact on antidepressant treatment response and emotion processing in major depression.

Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

Cigarette smoking in young adults: the influence of the HTR2A T102C polymorphism and punishment sensitivity.

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

Correction of alpha-L-fucosidase deficiency in fucosidosis fibroblasts by retroviral vector-mediated gene transfer

Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation

DRD2 C957T and TaqIA Genotyping Reveals Gender Effects and Unique Low-Risk and High-Risk Genotypes in Alcohol Dependence

DRD2/ANKK1 Taq1A (rs 1800497 C>T) genotypes are associated with susceptibility to second generation antipsychotic-induced akathisia.

Dopamine D₃ receptor gene variation: impact on electroconvulsive therapy response and ventral striatum responsiveness in depression.

Dysbindin (DTNBP1) variants are associated with hallucinations in schizophrenia.

Dysbindin (DTNBP1)--a role in psychotic depression?

Effect of fatty acids, glucose, and insulin on hepatic glucose uptake and glycolysis

Epigenetic analysis confirms no accelerated brain aging in schizophrenia

Expression analysis of a human hepatic cell line in response to palmitate.

Gene amplification directly from Guthrie blood spots

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe

Genetic mapping of new RFLPs at Xq27–q28

Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes

Genome-wide DNA methylation analysis of human brain tissue from schizophrenia patients.

Haemochromatosis and HLA-H.

HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association

Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.

Human alpha-L-iduronidase: cDNA isolation and expression

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo - in vitro approach

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

In vitro differentiation of human calvarial suture derived cells with and without dexamethasone does not induce in vivo-like expression

Interaction between DRD2 C957T polymorphism and an acute psychosocial stressor on reward-related behavioral impulsivity.

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

Interrogation of multimeric DNA amplification products by competitive primer extension using bst DNA polymerase (large fragment)

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene

Molecular genetics of metachromatic leukodystrophy

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene

Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations

Mutation analysis of 28 Gaucher disease patients: the Australasian experience

Mutation analysis of Australasian Gaucher disease patients

NOS1AP is associated with increased severity of PTSD and depression in untreated combat veterans

Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience.

Neural regulation of muscarinic receptors in chick expansor secundariorum muscle

PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease ⬇️

PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility

Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision

Population frequency of the arylsulphatase A pseudo-deficiency allele

Progress towards understanding the genetics of posttraumatic stress disorder

Pyruvate carboxylase in the yeast pyc mutant

Regulation of human hepatocyte gene expression by fatty acids.

Relationship Among CFH and ARMS2 Genotypes, Macular Pigment Optical Density, and Neuroretinal Function in Persons Without Age-Related Macular Degeneration

Reply to Migeon.

SNP technologies for drug discovery: a current review.

Sequence and domain structure of yeast pyruvate carboxylase

Solid-phase amplification and detection: a single-tube diagnostic assay for infectious agents.

Structure and sequence of the human alpha-L-iduronidase gene