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List of works by 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.

scientific article

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

scientific article

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

scientific article published in December 1981

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

scientific article published on 01 November 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

scientific article published on 30 September 2011

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients ⬇️

scientific article published on April 1, 1998

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

scientific article published in December 1990

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

scientific article published on January 2010

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

scientific article published in November 1993

Dinucleotide repeat polymorphism at the GLUDP2 locus.

scientific article published in December 1993

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

scientific article

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

scientific article (publication date: May 1982)

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

scientific article

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.

scientific article

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

scientific article published on May 1, 1988

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

scientific article published on 01 October 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

scientific article published on 01 January 1997

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

scientific article published on June 13, 1991

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

scientific article published on 01 December 1999

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

scientific article (publication date: May 2002)

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

scientific article published on 12 December 2007

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

scientific article published on 12 October 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

scientific article

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?

scientific article

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

scientific article published on 01 January 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.

scientific article published on April 1995

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

scientific article

The B multigene family of chorion proteins in saturniid silkmoths.

scientific article

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

scientific article

The future of metabolomics in ELIXIR

scientific article published in 2017

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

scientific article

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

scientific article (publication date: September 2002)

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

scientific article published in Nature

The structure and expression of mammalian gene clusters

scientific article published on 01 January 1982

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

scientific article published on 01 January 1989

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

scientific article published in December 2001

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