Lista de obras - Peter E Taschner - Dominio Público Uruguay

A germline chromothripsis event stably segregating in 11 individuals through three generations.

artículo científico publicado en 2015

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

scientific article published on 01 August 2001

An efficient algorithm for the extraction of HGVS variant descriptions from sequences

artículo científico publicado en 2015

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis

Caenorhabditis elegans as a model for lysosomal storage disorders.

artículo científico publicado en 2008

Carrier detection of Batten disease (Juvenile neuronal ceroid-lipofuscinosis)

Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease ⬇️

artículo científico publicado el 1 de noviembre de 1997

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society

artículo científico publicado en 2016

Curating gene variant databases (LSDBs): toward a universal standard

article

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

artículo científico publicado en 2005

Describing structural changes by extending HGVS sequence variation nomenclature.

artículo científico publicado en 2011

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay andCLN1 mutation analysis

artículo científico publicado en 1999

Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis in the Netherlands

Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

artículo científico publicado en 1994

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

artículo científico publicado en 1997

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

artículo científico publicado en 2016

Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

artículo científico publicado en 2003

Human Variome Project Quality Assessment Criteria for Variation Databases.

artículo científico publicado en 2016

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

artículo científico publicado en 2008

In search of triallelism in Bardet–Biedl syndrome ⬇️

artículo científico publicado el 22 de febrero de 2012

Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas.

artículo científico publicado en 2005

Isolation of genes from the Batten candidate region using exon amplification. Batten Disease Consortium.

artículo científico publicado en 1995

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

article

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

artículo científico publicado en 2010

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

artículo científico publicado en 1996

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

artículo científico publicado en 1998

Novel CLN3 mutation causing autophagic vacuolar myopathy

artículo científico publicado en 2015

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

artículo científico publicado en 2016

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

artículo científico publicado en 2001

Physical map of the region containing the gene for Batten disease (CLN3)

article

Plants transformed with a mutant alfalfa mosaic virus coat protein gene are resistant to the mutant but not to wild-type virus.

artículo científico publicado en 1994

Polymorphism of mu-opioid receptor gene (OPRM1:c.118A>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response.

artículo científico publicado en 2005

Preserving sequence annotations across reference sequences

artículo científico publicado en 2014

Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

artículo científico

Replicase-mediated resistance to alfalfa mosaic virus.

artículo científico publicado en 1995

SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.

artículo científico publicado en 2003

Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma

artículo científico publicado en 2009

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

artículo científico publicado en 2004

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.

artículo científico publicado en 2016

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

article

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

VarioML framework for comprehensive variation data representation and exchange

artículo científico publicado en 2012

YAC and Cosmid Contigs Spanning the Batten Disease (CLN3) Region at 16p12.1–p11.2

artículo científico publicado en 1995

Lista de obras de Peter E Taschner

A germline chromothripsis event stably segregating in 11 individuals through three generations.

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

An efficient algorithm for the extraction of HGVS variant descriptions from sequences

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis

Caenorhabditis elegans as a model for lysosomal storage disorders.

Carrier detection of Batten disease (Juvenile neuronal ceroid-lipofuscinosis)

Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease ⬇️

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society

Curating gene variant databases (LSDBs): toward a universal standard

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

Describing structural changes by extending HGVS sequence variation nomenclature.

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay andCLN1 mutation analysis

Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis in the Netherlands

Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

Human Variome Project Quality Assessment Criteria for Variation Databases.

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

In search of triallelism in Bardet–Biedl syndrome ⬇️

Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas.

Isolation of genes from the Batten candidate region using exon amplification. Batten Disease Consortium.

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

Novel CLN3 mutation causing autophagic vacuolar myopathy

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Physical map of the region containing the gene for Batten disease (CLN3)

Plants transformed with a mutant alfalfa mosaic virus coat protein gene are resistant to the mutant but not to wild-type virus.

Polymorphism of mu-opioid receptor gene (OPRM1:c.118A>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response.

Preserving sequence annotations across reference sequences

Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

Replicase-mediated resistance to alfalfa mosaic virus.

SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.

Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

The Matchmaker Exchange: a platform for rare disease gene discovery

VarioML framework for comprehensive variation data representation and exchange

YAC and Cosmid Contigs Spanning the Batten Disease (CLN3) Region at 16p12.1–p11.2