Lista de obras - Nicholas K Moschonas - Dominio Público Uruguay

Assignment of a human cold shock domain protein A intronless pseudogene (CSDAP1) to human chromosome 16 band p11.2 by in situ hybridization.

artículo científico publicado en 1999

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

artículo científico publicado en 2003

Beta + thalassemia: aberrant splicing results from a single point mutation in an intron

artículo científico publicado en 1981

Chromosomal mapping of two members of the human glutamate dehydrogenase (GLUD) gene family to chromosomes 10q22.3-q23 and Xq22-q23

artículo científico publicado en 1993

Cloning, chromosomal organization and expression analysis of Neurl, the mouse homolog of Drosophila melanogaster neuralized gene

scientific journal article

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

artículo científico publicado en 2011

Developmental and inducible patterns of human theta 1-globin gene expression in embryonic/fetal and adult erythroid cells.

artículo científico publicado en 1990

Different evolutionary histories of the coagulation factor VII gene in human populations?

artículo científico publicado en 2010

Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus.

artículo científico publicado en 1993

Dinucleotide repeat polymorphism at the GLUDP2 locus.

artículo científico publicado en 1993

ERF: genomic organization, chromosomal localization and promoter analysis of the human and mouse genes.

artículo científico publicado en 1997

European Gene Mapping Project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families

article

Evolution of a multigene family of chorion proteins in silkmoths

artículo científico publicado en 1982

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 analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

article

Involvement of G proteins in the mycelial photoresponses of Phycomyces.

artículo científico publicado en 2004

Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family ⬇️

artículo científico publicado el 1 de mayo de 1988

Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs

artículo científico publicado en 1990

Map integration at human chromosome 10: molecular and cytogenetic analysis of a chromosome-specific somatic cell hybrid panel and genomic clones, based on a well-supported genetic map

artículo científico publicado en 1997

Molecular cloning, structure and expression analysis of a full-length mouse brain glutamate dehydrogenase cDNA ⬇️

artículo científico publicado el 13 de junio de 1991

Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy

artículo científico publicado en 1999

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

artículo científico publicado en 2002

Neuralized-like 1 (Neurl1) targeted to the plasma membrane by N-myristoylation regulates the Notch ligand Jagged1.

artículo científico

PICKLE 2.0: A human protein-protein interaction meta-database employing data integration via genetic information ontology

artículo científico publicado en 2017

PKU in Slovakia: mutation screening and haplotype analysis

scientific article published on 01 January 1995

Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau

artículo científico publicado en 2007

Phenotypic analysis of globin gene expression: the thalassaemias

scientific article published on 01 January 1982

Reconstruction of the experimentally supported human protein interactome: what can we learn?

artículo científico publicado en 2013

Report of the second international workshop on human chromosome 10 mapping 1997

artículo científico publicado en 1997

Sequences located 3' to the breakpoint of the hereditary persistence of fetal hemoglobin-3 deletion exhibit enhancer activity and can modify the developmental expression of the human fetal A gamma-globin gene in transgenic mice.

artículo científico publicado en 1995

Tetra-/di-nucleotide repeat polymorphism upstream of the human alpha 2-globin gene locus at 16p13.3.

artículo científico publicado en 1995

The B multigene family of chorion proteins in saturniid silkmoths.

artículo científico publicado en 1983

The X chromosome Alu insertions as a tool for human population genetics: data from European and African human groups

artículo científico publicado en 2007

The future of metabolomics in ELIXIR

artículo científico publicado en 2017

The human glutamate dehydrogenase gene family: gene organization and structural characterization

artículo científico publicado en 1993

The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders

artículo científico publicado en 2002

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X

artículo científico publicado en 2001

The structure and expression of mammalian gene clusters

artículo científico publicado en 1982

Transcriptional regulatory factors may control the relative expression of human alpha 1 and alpha 2-globin genes in erythroleukemia cells

artículo científico publicado en 1989

neuralized Encodes a peripheral membrane protein involved in delta signaling and endocytosis.

artículo científico publicado en 2001

Lista de obras de Nicholas K Moschonas

Assignment of a human cold shock domain protein A intronless pseudogene (CSDAP1) to human chromosome 16 band p11.2 by in situ hybridization.

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

Beta + thalassemia: aberrant splicing results from a single point mutation in an intron

Chromosomal mapping of two members of the human glutamate dehydrogenase (GLUD) gene family to chromosomes 10q22.3-q23 and Xq22-q23

Cloning, chromosomal organization and expression analysis of Neurl, the mouse homolog of Drosophila melanogaster neuralized gene

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

Developmental and inducible patterns of human theta 1-globin gene expression in embryonic/fetal and adult erythroid cells.

Different evolutionary histories of the coagulation factor VII gene in human populations?

Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus.

Dinucleotide repeat polymorphism at the GLUDP2 locus.

ERF: genomic organization, chromosomal localization and promoter analysis of the human and mouse genes.

European Gene Mapping Project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families

Evolution of a multigene family of chorion proteins in silkmoths

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

Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

Involvement of G proteins in the mycelial photoresponses of Phycomyces.

Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family ⬇️

Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs

Map integration at human chromosome 10: molecular and cytogenetic analysis of a chromosome-specific somatic cell hybrid panel and genomic clones, based on a well-supported genetic map

Molecular cloning, structure and expression analysis of a full-length mouse brain glutamate dehydrogenase cDNA ⬇️

Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

Neuralized-like 1 (Neurl1) targeted to the plasma membrane by N-myristoylation regulates the Notch ligand Jagged1.

PICKLE 2.0: A human protein-protein interaction meta-database employing data integration via genetic information ontology

PKU in Slovakia: mutation screening and haplotype analysis

Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau

Phenotypic analysis of globin gene expression: the thalassaemias

Reconstruction of the experimentally supported human protein interactome: what can we learn?

Report of the second international workshop on human chromosome 10 mapping 1997

Sequences located 3' to the breakpoint of the hereditary persistence of fetal hemoglobin-3 deletion exhibit enhancer activity and can modify the developmental expression of the human fetal A gamma-globin gene in transgenic mice.

Tetra-/di-nucleotide repeat polymorphism upstream of the human alpha 2-globin gene locus at 16p13.3.

The B multigene family of chorion proteins in saturniid silkmoths.

The X chromosome Alu insertions as a tool for human population genetics: data from European and African human groups

The future of metabolomics in ELIXIR

The human glutamate dehydrogenase gene family: gene organization and structural characterization

The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X

The structure and expression of mammalian gene clusters

Transcriptional regulatory factors may control the relative expression of human alpha 1 and alpha 2-globin genes in erythroleukemia cells

neuralized Encodes a peripheral membrane protein involved in delta signaling and endocytosis.