Denis Le Paslier

Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2 (1995)

Fippiat, Jean-Pol, Williams, Samuel C., Tomlinson, Lan M., Cook, Graham P., Cherif, Dorra, Paslier, Denis Le, ...

The maps of the human immunoglobulin heavy-chain and kappa light-chain loci have recently been completed. We have now completed a map of the human lambda locus (IGL) located on chromosome 22q 11.2....

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene (1994)

Guilford, Parry, Ayadi, Hamadi, Blanchard, Stéphane, Chaib, Hassan, Paslier, Denis Le, Weissenbach, Jean, ...

The identification of mouse models for the various forms of human neurosensory non-syndromic recessive deafness would constitute a major advance in the study of human deafness. Here we describe the...

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene (1994)

Vincent, Christophe, Kalatzis, Vasiliki, Compain, Sylvie, Levilliers, Jacqueline, Slim, Rima, Graia, Fatima, ...

The analysis of a de novo 8q12.2–q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane...

Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome (1993)

Chevillard, Christophe, Paslier, Denis Le, Passage, Edith, Ougen, Pierre, Billault, Alain, Boyer, Sylvie, ...

The juxtacentromeric region of the human chromosome 17 short arm (17p11.2-p12) contains genes Involved in the Charcot - Marie - Tooth type 1A disease (CMT1A) and the Smith-Magenis syndrome (SMS)....