H. Scott

发表

Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee.

S Povey, P J McAlpine, J Frezal, 1997, Genomics.

RNA-based targeted gene sequencing improves the diagnostic yield of mutant detection in chronic myeloid leukemia.

Paul P. S. Wang, D. Thomson, A. Schreiber, 2022, The Journal of molecular diagnostics : JMD.

Chromosomal Localization of the Human a-L-iduronidase Gene (IDUA) to 4pl6.3

D. Callen, D. Brooks, Baker, 2006 .

SAGE Analysis of Genes Differentially Expressed in Presymptomatic TgSOD1G93A Transgenic Mice Identified Cellular Processes Involved in Early Stage of ALS Pathology

T. Beißbarth, C. Masters, G. Smyth, 2010, Journal of Molecular Neuroscience.

Genetic regulators of myelopoiesis and leukemic signaling identified by gene profiling and linear modeling

Anna L. Brown, G. Glonek, G. Goodall, 2006, Journal of leukocyte biology.

Redefining epithelial progenitor potential in the developing thymus

H. Scott, S. Parnell, G. Anderson, 2007, European journal of immunology.

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Alain Malafosse, S. Antonarakis, C. Buresi, 1997, Nature.

Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomas

E. Rendina, M. Marino, E. Pilozzi, 2007, Clinical and experimental immunology.

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non‐syndromic autosomal recessive deafness

S. Antonarakis, C. Rossier, M. Guipponi, 2001, Human mutation.

Huntington disease-linked locusD4S111 exposed as the α-l-iduronidase gene

C. P. Morris, M. MacDonald, H. Lehrach, 1991, Somatic cell and molecular genetics.

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

X. Estivill, T. Speed, Justin Tan, 2008, Human mutation.

Molecular defects in Sanfilippo syndrome type A.

H. Scott, J. Hopwood, X. Guo, 1997, Human molecular genetics.

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B).

H. Scott, J. Hopwood, P. Clements, 1996, Human molecular genetics.

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

C. P. Morris, G. Sutherland, H. Scott, 1995, Nature Genetics.

Structure and sequence of the human sulphamidase gene.

H. Scott, L. Karageorgos, J. Hopwood, 1996, DNA research : an international journal for rapid publication of reports on genes and genomes.

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

C. P. Morris, H. Scott, E. Schwinger, 1994, Human molecular genetics.

The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion

S. Antonarakis, H. Scott, M. Lalioti, 2003, Cytogenetic and Genome Research.

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

N. Guex, S. Antonarakis, C. Rossier, 1998, American journal of human genetics.

Isolation and characterization of the mouse Aire gene.

S. Antonarakis, N. Shimizu, J. Kudoh, 1999, Biochemical and biophysical research communications.

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.

S. Antonarakis, N. Shimizu, J. Kudoh, 1998, Molecular endocrinology.

APECED: a monogenic autoimmune disease providing new clues to self-tolerance.

S. Antonarakis, N. Shimizu, J. Kudoh, 1998, Immunology today.

Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.

S Minoshima, S. Antonarakis, N. Shimizu, 2000, Genomics.

Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.

S. Antonarakis, N. Shimizu, S. Minoshima, 1997, Genome research.

Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.

S. Antonarakis, P. Peterson, C. Rossier, 1998, Genomics.

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

S. Antonarakis, C. Buresi, A. Malafosse, 1998, American journal of human genetics.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

U. C. Patel, K. Grzeschik, S. Antonarakis, 1999, American journal of human genetics.

Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family.

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.

Structure and sequence of the human α-l-iduronidase gene

C. P. Morris, H. Scott, J. Hopwood, 1992 .

Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE).

H. Scott, R. Chrast, H. Scott, 2001, Genetic engineering.

Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Shinsei Minoshima, Stylianos E. Antonarakis, Kazunori Shibuya, 2001, Nature Genetics.

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

S. Antonarakis, N. Shimizu, J. Kudoh, 1999, Biochemical and biophysical research communications.

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals.

X. Estivill, S. Antonarakis, E. Antonarakis, 2000, Genome research.

Human alpha-L-iduronidase: cDNA isolation and expression.

C. P. Morris, H. Scott, J. Hopwood, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients

J. Gécz, L. To, H. Scott, 2008, Leukemia.

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.

Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.

S. Antonarakis, C. Rossier, H. Scott, 1998, Genomics.