MMG PUBLICATIONS

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Results: 3193  publications found.

Clark, PA.  et al. 1994

Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21

The three microsatellite repeat loci, DXS986, DXS995, and DXS1002, have been mapped to Xq13.2-21.1. We report here their relative order and their localisation within Xq21. These loci will be useful...
J. Med. Genet. - issue: 4 - volume: 31 - pages: 344-345.

Gecz, J.  et al. 1994

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia, SCID, Menkes disease and X-linked mental...
Hum. Mol. Genet. - issue: 1 - volume: 3 - pages: 39-44.

Gecz, J.  et al. 1993

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts

Several new techniques for isolation expressed sequences have been recently described considerably speeding up the identification of unknown genes. Here we present a transcriptional map of the 1 Mb...
Hum. Mol. Genet. - issue: 9 - volume: 2 - pages: 1389-1396.

Delague, V.  et al. 1993

Charcot-Marie-Tooth Neuropathy Type 4H – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY

NOTE: THIS PUBLICATION IS ARCHIVED. IT IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. CLINICAL CHARACTERISTICS: Charcot-Marie-Tooth neuropathy type 4H (CMT4H) is a...
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Antonellis, A.  et al. 1993

GARS1-Associated Axonal Neuropathy

GARS1-associated axonal neuropathy (Charcot-Marie-Tooth neuropathy type 2D / distal spinal muscular atrophy V [CMT2D/dSMA-V]) is characterized by adolescent or early-adult onset of weakness in the...
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Gene. 2000 Sep 19, .  et al. 0

Laugier-Anfossi F

10.1016/s0378-1119(00)00326-7
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Nadeau G, .  et al. 0

Puechberty J

Tevissen H
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, .  et al. 0

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Hum Genet. 2000 Jan, .  et al. 0

Friez MJ

10.1007/s004390051006
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Ben Zeev B, .  et al. 0

Pineda M

Mari F
Ravn K - issue: Mejaaki Boanjak V - volume: Polg - pages: Djuric M.

Colleaux L, .  et al. 0

Cardoso C

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Hum Mol Genet. 2000 May 22, .  et al. 0

Bienvenu T

10.1093/hmg/9.9.1377
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, .  et al. 0

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, .  et al. 0

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Eur J Hum Genet. 2000 Feb, .  et al. 0

Villard L

10.1038/sj.ejhg.5200432
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Rondinella D, .  et al. 0

De Filippis R

Chabrol B
- issue: Mari F - volume: Ariani F - pages: Pineda M.

Haymowicz M, .  et al. 0

Welborn R

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Am J Med Genet. 2000 Mar 6, .  et al. 0

Villard L

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Font, .  et al. 0

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Fontés M, .  et al. 0

Colleaux L.;"Gene. 1999 Jul 22;235(1-2):43-50. doi: 10.1016/s0378-1119(99)00217-6.";Villard L;Gene;1999;23/07/1999;;;10.1016/s0378-1119(99)00217-6

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