A gene map of the human genome

GD Schuler, MS Boguski, EA Stewart, LD Stein… - Science, 1996 - science.org
The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have
been sampled to date in the form of expressed sequence tags. An international consortium …

Strategies for the systematic sequencing of complex genomes

ED Green - Nature Reviews Genetics, 2001 - nature.com
Recent spectacular advances in the technologies and strategies for DNA sequencing have
profoundly accelerated the detailed analysis of genomes from myriad organisms. The past …

A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

JN Feder, A Gnirke, W Thomas, Z Tsuchihashi… - Nature …, 1996 - nature.com
Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated
carrier frequency of 1 in 10 individuals of Northern European descent, results in multi–organ …

Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)

K Yamagata, N Oda, PJ Kaisaki, S Menzel, H Furuta… - Nature, 1996 - nature.com
THE disease non-insulin-dependent (type 2) diabetes mellitus (NIDDM) is characterized by
abnormally high blood glucose resulting from a relative deficiency of insulin1. It affects about …

hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization

M Meyerson, CM Counter, EN Eaton, LW Ellisen… - cell, 1997 - cell.com
Telomerase, the ribonucleoprotein enzyme that elongates telomeres, is repressed in normal
human somatic cells but is reactivated during tumor progression. We report the cloning of a …

Karyotyping human chromosomes by combinatorial multi-fluor FISH

MR Speicher, SG Ballard, DC Ward - Nature genetics, 1996 - nature.com
We have developed epifluorescence filter sets and computer software for the detection and
discrimination of 27 different DNA probes hybridized simultaneously. For karyotype analysis …

A comprehensive genetic map of the human genome based on 5,264 microsatellites

C Dib, S Fauré, C Fizames, D Samson, N Drouot… - Nature, 1996 - nature.com
THE great increase in successful linkage studies in a number of higher eukaryotes during
recent years has essentially resulted from major improvements in reference genetic linkage …

Dynamic molecular combing: stretching the whole human genome for high-resolution studies

X Michalet, R Ekong, F Fougerousse, S Rousseaux… - Science, 1997 - science.org
DNA in amounts representative of hundreds of eukaryotic genomes was extended on
silanized surfaces by dynamic molecular combing. The precise measurement of hybridized …

The Apoptosis Inhibitor Gene API2 and a Novel 18q Gene,MLT, Are Recurrently Rearranged in the t(11;18)(q21;q21) Associated With Mucosa-Associated Lymphoid …

J Dierlamm, M Baens, I Wlodarska… - Blood, The Journal …, 1999 - ashpublications.org
Marginal zone cell lymphomas of the mucosa-associated lymphoid tissue (MALT) are the
most common subtype of lymphoma arising at extranodal sites. The t (11; 18)(q21; q21) …

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

CL Freund, CY Gregory-Evans, T Furukawa… - Cell, 1997 - cell.com
Genes associated with inherited retinal degeneration have been found to encode proteins
required for phototransduction, metabolism, or structural support of photoreceptors. Here we …