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XLMR Genes
Update
WebSite


Welcome to the XLMR Update Web site, curated by Pietro Chiurazzi of the Institute of Medical Genetics of the Catholic University in Rome.

The 15th edition of the International Workshop on Fragile X and XLMR is organized by Vera Kalscheuer and Hans-Hilger Ropers.
It shall take place in Berlin from Sunday, September 4 until Wednesday, September 7, 2011.
The deadline for abstract submission is June 10, 2011. Please check out the details at the dedicated Web site.



The nucleotide sequence of the X chromosome has almost been completed and the results of this exciting effort were reported in the issue of March 17, 2005 of Nature (Nature 2005; 434:325-337).


The latest published edition of the XLMR Genes Update was published in January 2008 and the PDF file is available here Chiurazzi et al. 2008; Eur J Hum Genet 16:422-434. In order to continuously and efficiently update the XLMR listing we need the help of us all, so please contact me with suggestions and proposed changes to the Tables and Figures:

TABLES (.pdf):

Listing of XLMR syndromes (Table S1)
Listing of neuromuscular conditions (Table S2)
Listing of nonspecific (MRX) cases (Table S3)
Total counts (Table 1)
XLMR Genes and corresponding proteins (Table 2)
Listing of provisional XLMR genes(Table S4)

MAPS (.pdf):

Mapping of all cloned XLMR genes GENES
Mapping of specific (MRXS) conditions MRXS
Mapping of nonspecific (MRX) conditions MRX


History of the XLMR Workshops

The Fragile X and XLMR Workshops started in 1983, when the first meeting was organized in Washington. Here is the list of the various editions:

XLMR1 1983 - Washington, DC (USA)
XLMR2 1985 - Dunk Island, QLD (Australia)
XLMR3 1987 - Troina (Italy)
XLMR4 1989 - Harriman, NY (USA)
XLMR5 1991 - Strasbourg (France)
XLMR6 1993 - Palm Cove, QLD (Australia)
XLMR7 1995 - Tromso (Norway)
XLMR8 1997 - Picton, ON (Canada)
XLMR9 1999 - Strasbourg (France)
XLMR10 2001 - Frascati (Italy)
XLMR11 2003 - Paphos (Cyprus)
XLMR12 2005 - Williamsburg, VA (USA)
XLMR13 2007 - Venezia (Italy)
XLMR14 2009 - Praia do Forte, Bahia (Brazil)
XLMR15 2011 - Berlin (Germany)

The picture below is a nice one from the 10th XLMR Workshop held in Frascati (Italy) in September 2001.



This picture was taken during the 13th International Workshop on Fragile X and X-linked mental retardation was held in October 2007 in Venice


Here you can download a Powerpoint presentation with pictures from the various Workshops !!!

USEFUL LINKS:

Mendelian Inheritance in Man Online (OMIM)
Medline and Entrez at NCBI
The Human Gene Nomenclature Committee
The XLMR pages of Charles Schwartz and Roger Stevenson at the Greenwood Genetic Center (GCC)
The X chromosome map at NCBI
The Human X chromosome project at Sanger Centre
The Human X chromosome at ENSEMBL
The X chromosome page at the Human Genome Project Information website
The European MRX Website recently established in Nijmegen
The Italian XLMR project website (Siena, Italy)
The Institute of Medical Genetics of the Catholic University (Rome, Italy)
The Genome portal of EBI, EnsEMBL
The Kyoto Encyclopedia of Genes and Genomes KEGG
The European database of orphan diseases, Orphanet
The genetic maps at the Marshfield Center for Medical Genetics

My home page is here
 Last updated - 20 May 2011 by Pietro Chiurazzi