Lista de obras - Marie Mangelsdorf - Dominio Público Uruguay

A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.

artículo científico publicado en 1997

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

artículo científico publicado en 2016

Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing

artículo científico publicado en 2014

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

artículo científico publicado en 2007

Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene

artículo científico publicado en 2009

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.

artículo científico publicado en 2015

Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.

artículo científico publicado en 1997

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

artículo científico publicado en 2017

Dynamic mutation loci: allele distributions in different populations

artículo científico publicado en 1996

FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.

artículo científico publicado en 1998

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

artículo científico publicado en 2004

Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.

artículo científico publicado en 1997

Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

artículo científico publicado en 1997

Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain.

artículo científico publicado en 2012

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

artículo científico publicado en 2002

Inhibition of motor neuron death in vitro and in vivo by a p75 neurotrophin receptor intracellular domain fragment

artículo científico publicado en 2015

Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus

scientific article published on 01 March 1995

Molecular genetics of X-linked mental retardation: a complex picture emerging.

artículo científico publicado en 2001

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

artículo científico publicado en 2016

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

artículo científico publicado en 2002

RNA-binding proteins in neurological diseases.

artículo científico

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis

artículo científico publicado en 2005

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

artículo científico publicado en 2002

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

artículo científico publicado en 2017

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

artículo científico publicado en 2017

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

artículo científico publicado en 2005

Lista de obras de Marie Mangelsdorf

A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.

Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

Dynamic mutation loci: allele distributions in different populations

FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.

Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain.

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Inhibition of motor neuron death in vitro and in vivo by a p75 neurotrophin receptor intracellular domain fragment

Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus

Molecular genetics of X-linked mental retardation: a complex picture emerging.

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

RNA-binding proteins in neurological diseases.

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene