Daniel Cohen

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Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, +13 authors Judith Melki
Cell
1995

Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive paralysis with muscular atrophy. The gene for… (More)

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, +15 authors Jacques S. Beckmann
Cell
1995

Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated. The autosomal recessive forms (LGMD2) constitute a genetically… (More)

Genetic associations with human longevity at the APOE and ACE loci

François Schächter, Laurence Faure-Delanef, +4 authors Daniel Cohen
Nature Genetics
1994

In an effort to dissect the genetic components of longevity, we have undertaken case–control studies of populations of centenarians (n=338) and adults aged 20–70 years at several polymorphic… (More)

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

Renaud Legouis, Jean-Pierre Hardelin, +7 authors Dominique Caterina
Cell
1991

Kallmann syndrome associates hypogonadotropic hypogonadism and anosmia and is probably due to a defect in the embryonic migration of olfactory and GnRH-synthesizing neurons. The Kallmann gene had… (More)

A genomics approach reveals that aroma production in apple is controlled by ethylene predominantly at the final step in each biosynthetic pathway.

Robert James Schaffer, Ellen N Friel, +12 authors Richard D. Newcomb
Plant physiology
2007

Ethylene is the major effector of ripening in many fleshy fruits. In apples (Malus x domestica) the addition of ethylene causes a climacteric burst of respiration, an increase in aroma, and softening… (More)

The CIC library: a large insert YAC library for genome mapping in Arabidopsis thaliana.

Francine Creusot, E Fouilloux, +7 authors Alexandra Durr
The Plant journal : for cell and molecular…
1995

A new Arabidopsis thaliana (ecotype Columbia) genomic library has been constructed in Yeast Artificial Chromosomes: the CIC library (for CEPH, INRA and CNRS). Optimization of plant culture conditions… (More)

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome.

Jean Dausset, Howard M. Cann, Daniel Cohen, Mark Lathrop, J. M. Lalouel, R. White
Genomics
1990

Loss of telomeric DNA during aging of normal and trisomy 21 human lymphocytes.

Homayoun Vaziri, François Schächter, +5 authors Calvin B. Harley
American journal of human genetics
1993

The telomere hypothesis of cellular aging proposes that loss of telomeric DNA (TTAGGG) from human chromosomes may ultimately cause cell-cycle exit during replicative senescence. Since lymphocytes… (More)

Genetic analysis of case/control data using estimated haplotype frequencies: application to APOE locus variation and Alzheimer's disease.

Danièle Fallin, Adam P. Cohen, +4 authors Nicholas J. Schork
Genome research
2001

There is growing debate over the utility of multiple locus association analyses in the identification of genomic regions harboring sequence variants that influence common complex traits such as… (More)

Detection of mitochondrial DNA mutations in primary breast cancer and fine-needle aspirates.

Paola Parrella, Yonghong Xiao, +12 authors David Sidransky
Cancer research
2001

To determine the frequency and distribution of mitochondrial DNA mutations in breast cancer, 18 primary breast tumors were analyzed by direct sequencing. Twelve somatic mutations not present in… (More)

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