MMG PUBLICATIONS

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Results: 3195  publications found.

Gibbons, RJ.  et al. 1995

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results...
Cell - issue: 6 - volume: 80 - pages: 837-845.

Villard, L.  et al. 1995

Construction of a YAC contig spanning the Xq13.3 subband

The loci involved in several X-linked mental retardation syndromes have been linked to the pericentromeric region of the X chromosome long arm (Xq12-q21). To isolate candidate genes for these...
Genomics - issue: 1 - volume: 26 - pages: 115-122.

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Charcot-Marie-Tooth Neuropathy Type 4H – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY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 IT IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE.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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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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