Lista de obras - Lisbeth Birk Møller - Dominio Público Uruguay

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

artículo científico publicado en 2017

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

artículo científico publicado en 2016

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

artículo científico publicado en 2013

Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance

artículo científico publicado en 2014

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

artículo científico publicado en 2016

Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin

artículo científico publicado en 2014

Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

scientific article published on 18 December 2020

Biopterin responsive phenylalanine hydroxylase deficiency

artículo científico publicado en 2004

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

artículo científico publicado en 2017

Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene

artículo científico publicado en 2000

Clinical expression of Menkes disease in females with normal karyotype.

artículo científico publicado en 2012

Clinical presentation and mutations in Danish patients with Wilson disease.

artículo científico publicado en 2011

Clinical utility gene card for: Phenylketonuria.

artículo científico publicado en 2011

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels.

artículo científico publicado en 2018

Comparison of two different culture conditions for derivation of early hiPSC

artículo científico publicado en 2018

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

artículo científico publicado en 2005

Control of copper homeostasis in Escherichia coli by a P-type ATPase, CopA, and a MerR-like transcriptional activator, CopR

artículo científico publicado en 2000

Copper-transporting P-type ATPases use a unique ion-release pathway

artículo científico publicado en 2014

Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].

artículo científico publicado en 2018

Crystal structure of a copper-transporting PIB-type ATPase

artículo científico publicado en 2011

Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.

artículo científico publicado en 2017

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

artículo científico publicado en 2006

Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.

artículo científico publicado en 2011

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

artículo científico publicado en 2006

Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation

artículo científico publicado en 2010

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

artículo científico publicado en 2009

Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations.

artículo científico publicado en 2005

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

artículo científico publicado en 2005

Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family.

artículo científico publicado en 2013

Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders.

artículo científico publicado en 2012

Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.

artículo científico publicado en 2005

Intraplantar injection of tetrahydrobiopterin induces nociception in mice

artículo científico publicado en 2014

Invariance of the nucleoside triphosphate pools of Escherichia coli with growth rate

artículo científico publicado en 2000

Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays

artículo científico publicado en 2011

Mannose 6-Phosphate/Insulin-like Growth Factor–II Receptor Targets the Urokinase Receptor to Lysosomes via a Novel Binding Interaction ⬇️

artículo científico publicado el 4 de mayo de 1998

Menkes disease

artículo científico publicado en 2009

Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures

artículo científico publicado en 2016

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

artículo científico publicado en 2014

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

artículo científico publicado en 2012

Molecular diagnosis of Menkes disease: genotype-phenotype correlation.

artículo científico publicado en 2009

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

artículo científico publicado en 2019

Mottled Mice and Non-Mammalian Models of Menkes Disease

artículo científico publicado en 2015

Multi-stringency wash of partially hybridized 60-mer probes reveals that the stringency along the probe decreases with distance from the microarray surface

artículo científico publicado en 2008

Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test.

artículo científico publicado en 2008

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

scientific article published on 18 June 2020

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

artículo científico publicado en 2015

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

artículo científico publicado en 2012

Neonatal Erythroderma as a First Manifestation of Menkes Disease

artículo científico publicado en 2012

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

artículo científico publicado en 2012

Partial USH2A deletions contribute to Usher syndrome in Denmark

artículo científico publicado en 2015

Partial USH2A deletions contribute to Usher syndrome in Denmark.

artículo científico publicado en 2015

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

artículo científico publicado en 2005

Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)

artículo científico publicado en 2012

Small amounts of functional ATP7A protein permit mild phenotype.

artículo científico publicado en 2014

Splice site mutations in the ATP7A gene.

artículo científico publicado en 2011

Structural models of the human copper P-type ATPases ATP7A and ATP7B.

artículo científico publicado en 2012

TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms.

artículo científico publicado en 2018

The RihA, RihB, and RihC ribonucleoside hydrolases of Escherichia coli. Substrate specificity, gene expression, and regulation.

artículo científico publicado en 2001

The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model

scientific article published on 11 January 2022

The first Danish patient with a recognisable genetic KBG syndrome ⬇️

artículo científico publicado en 2018

The urokinase receptor and regulation of cell surface plasminogen activation.

artículo científico publicado en 1990

Usher syndrome in Denmark: mutation spectrum and some clinical observations

scientific article published on 28 June 2016

Variations in the cytoplasmic region account for the heterogeneity of the chicken MHC class I (B-F) molecules

artículo científico publicado en 1991

X-linked Menkes disease: first documented report of germ-line mosaicism.

artículo científico publicado en 2004

X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion.

artículo científico publicado en 2002

X-linked recessive Menkes disease: identification of partial gene deletions in affected males.

artículo científico publicado en 2002

[Diagnostics and treatment of phenylketonuria] ⬇️

artículo científico publicado en 2015

Lista de obras de Lisbeth Birk Møller

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin

Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Biopterin responsive phenylalanine hydroxylase deficiency

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene

Clinical expression of Menkes disease in females with normal karyotype.

Clinical presentation and mutations in Danish patients with Wilson disease.

Clinical utility gene card for: Phenylketonuria.

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels.

Comparison of two different culture conditions for derivation of early hiPSC

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Control of copper homeostasis in Escherichia coli by a P-type ATPase, CopA, and a MerR-like transcriptional activator, CopR

Copper-transporting P-type ATPases use a unique ion-release pathway

Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].

Crystal structure of a copper-transporting PIB-type ATPase

Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations.

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family.

Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders.

Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.

Intraplantar injection of tetrahydrobiopterin induces nociception in mice

Invariance of the nucleoside triphosphate pools of Escherichia coli with growth rate

Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays

Mannose 6-Phosphate/Insulin-like Growth Factor–II Receptor Targets the Urokinase Receptor to Lysosomes via a Novel Binding Interaction ⬇️

Menkes disease

Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Molecular diagnosis of Menkes disease: genotype-phenotype correlation.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Mottled Mice and Non-Mammalian Models of Menkes Disease

Multi-stringency wash of partially hybridized 60-mer probes reveals that the stringency along the probe decreases with distance from the microarray surface

Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test.

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

Neonatal Erythroderma as a First Manifestation of Menkes Disease

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

Partial USH2A deletions contribute to Usher syndrome in Denmark

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)

Small amounts of functional ATP7A protein permit mild phenotype.

Splice site mutations in the ATP7A gene.

Structural models of the human copper P-type ATPases ATP7A and ATP7B.

TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms.

The RihA, RihB, and RihC ribonucleoside hydrolases of Escherichia coli. Substrate specificity, gene expression, and regulation.

The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model

The first Danish patient with a recognisable genetic KBG syndrome ⬇️

The urokinase receptor and regulation of cell surface plasminogen activation.

Usher syndrome in Denmark: mutation spectrum and some clinical observations

Variations in the cytoplasmic region account for the heterogeneity of the chicken MHC class I (B-F) molecules

X-linked Menkes disease: first documented report of germ-line mosaicism.

X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion.

X-linked recessive Menkes disease: identification of partial gene deletions in affected males.

[Diagnostics and treatment of phenylketonuria] ⬇️