MMG PUBLICATIONS

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Results: 2258  publications found.

Villard, L.  et al. 1995

Use of interspersed repetitive sequences-PCR products for cDNA selection

In order to increase the efficiency of cDNA selection approaches, we describe the use of interspersed repetitive sequences-PCR (IRS-PCR) products to isolate genes from large-insert genomic clones....
Mamm. Genome - issue: 9 - volume: 6 - pages: 617-622.


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Charcot-Marie-Tooth Neuropathy Type 4H – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY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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Graillon, T.  et al. 0

Surgical indications for pituitary tumors during pregnancy: a literature review

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Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects. - PubMed - NCBI

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Hartley JN", .  et al. 0

Frosk P

Kumar V
" - issue: Eur J Hum Genet"" - volume: 2021"" - pages: Eur J Hum Genet. 2021 Feb 18. doi: 10.1038/s41431-021-00821-0. Online ahead of print."".


2021"", .  et al. 0

2020/12/21""

Brocard C
PMC7688130"" - issue: PLoS Biol"" - volume: 2020"" - pages: PLoS Biol. 2020 Nov 13";"18(11):e3000738. doi: 10.1371/journal.pbio.3000738. eCollection 2020 Nov."".


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2020/06/04""

Roubertoux P
Molinari F - issue: Roux JC - volume: Yalcin B - pages: Collins SC.


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Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. - PubMed - NCBI

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Skeletal muscle MACF1 maintains myonuclei and mitochondria localization through microtubules to control muscle functionalities | bioRxiv

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Membrane Repair: Mechanisms and Pathophysiology - PubMed

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Graillon, T.  et al. 0

Surgical indications for pituitary tumors during pregnancy: a literature review

Purpose Surgical indications for pituitary tumors during pregnancy are rare, and are derived from a balance between expected benefits, particularly for maternal benefits, and anesthetic/surgical...
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