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Alstrom Syndrome Conference Report
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author: J rgen Naggert
subject: Alstrom Syndrome Conference Report
updated: 22/03/2006
matching:
retin pigmentosa 22 autosom recess
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Medical Literature
Tw 41:270-272 Charles SJ, Moore AT, Yates JRW, Green T, Clark P (1990) : Alstroem 's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.
(1983): Deafness and retinitis pigmentosa [Lipoacusia nella retinite pigmentosa] Acta Otorhinolaryngologica Italica,-3-(1):63-69.
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782-1102 13.1 newsletter40.qxd
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author: Joseph Bradfield
updated: 18/06/2004
matching:
retin pigmentosa 22 autosom recess
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http://www.clontech.com/clontech/atlas/genelists/7905-1_HuPlastic8K.txt
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article ID:
updated: 13/03/2002
matching:
retin pigmentosa 22 autosom recess
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http://www.clontech.com/clontech/atlas/genelists/7903-1_7904-1_HuGlass38.txt
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article ID:
updated: 16/05/2001
matching:
retin pigmentosa 22 autosom recess
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RGR Recombinant Protein (P01)-Abnova Corporation
//ERROR MESSAGE RETURN====================================================================================== //var addmail="fyou@abnova.com.tw"; //window.onerror=function(errmsg,url,ln){ //if(window.confirm("A run-time error has occurred.\n\n Position:"+url+"\n line:"+ln+"\n This is an error message:"+errmsg+"\n\n Would you like to report to Abnova's webmaster?")){ //document...
author: Abnova
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MERTK Recombinant Protein (Q01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
//ERROR MESSAGE RETURN====================================================================================== //var addmail="fyou@abnova.com.tw"; //window.onerror=function(errmsg,url,ln){ //if(window.confirm("A run-time error has occurred.\n\n Position:"+url+"\n line:"+ln+"\n This is an error message:"+errmsg+"\n\n Would you like to report to Abnova's webmaster?")){ //document...
author: Abnova
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RLBP1 Recombinant Protein (P01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
//ERROR MESSAGE RETURN====================================================================================== //var addmail="fyou@abnova.com.tw"; //window.onerror=function(errmsg,url,ln){ //if(window.confirm("A run-time error has occurred.\n\n Position:"+url+"\n line:"+ln+"\n This is an error message:"+errmsg+"\n\n Would you like to report to Abnova's webmaster?")){ //document...
author: Abnova
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Retinal Degeneration 1 - The Jackson Laboratory
Mutations in the gene encoding the β subunit of cGMP-PDE have been found in human patients suffering from autosomal recessive retinitis pigmentosa (OMM 180072), a disorder bearing phenotypic resemblance to the mouse Pde6b rd1 phenotype.
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Bo Chang Staff Research Page - The Jackson Laboratory
A New Mouse Model of Retinal Degeneration (rd15) With Retinal Outer Plexiform Dystrophy Retinal degeneration 15 (allele symbol: rd15) is a new autosomal recessive mouse mutation that causes a slow progressive retinal degeneration and retinal outer plexiform layer dystrophy.
rd16 may provide a novel mouse model for pathogenesis of ...
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Jurgen Naggert Staff Research Page - The Jackson Laboratory
Breeding experiments suggested that the hyperglycemic trait was caused by a newly acquired autosomal recessive, single gene mutation that occurred on a permissive genetic background.
Tulp1, when mutated in humans, causes retinitis pigmentosa 14 and leads to retinal degeneration in mice.
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http://www.chemicon.com/Resource/newsltrs/740-1002NeuroNewsltr.pdf
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updated: 18/06/2004
matching:
retin pigmentosa autosom recess
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http://www.chemicon.com/Resource/newsltrs/740-1002NeuroNewsltr.pdf page 8
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updated: 18/06/2004
matching:
retin pigmentosa autosom recess
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782-1102 13.1 newsletter40.qxd page 3
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author: Joseph Bradfield
updated: 18/06/2004
matching:
retin pigmentosa autosom recess
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Genomic Instability Syndromes
Genomic Instability Syndromes Syndrome Clinical Presentation Chromosomal Location Mutant gene Protein activities A-T (Ataxia telangiectasia) neurodegeneration, immunodeficiency, premature aging, radiation sensitivity, cancer 11q23 ATM protein kinase NBS (Nijmegen breakage syndrome) microcephaly and mental retardation, immunodeficiency, radiation sensitivity, cancer 8q21.3 Nbs1 BRCT...
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TJL T31 RH Data Chr 1 refs
#Rp1h, mutations in the human ORP1/RP1 gene cause the RP1 form of autosomal dominant retinitis pigmentosa, reported in 1999 Nature Genetics 22: 248-254.
Nature Genetics 22: 384-387.
Nature Genetics 22: 384-387.
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TJL BSS Panel: Chr 1 refs
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
#mRP1, mouse homolog of human RP-1 gene, retinitis pigmentosa, mapped by PCR, partial data.
This interval is syntenic with mouse 1: it includes S-arrestin (2q37.1) which corresponds to Sag (retinal S-antigen) in mouse (53.6 cM on chr 1).
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http://www.clontech.com/clontech/atlas/genelists/7903-1_HuGlass38I.pdf page 136
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updated: 13/03/2002
matching:
retin pigmentosa 22 autosom
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http://www.clontech.com/clontech/atlas/genelists/7907-1_MoGlass38I.txt
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article ID:
updated: 09/11/2001
matching:
retin pigmentosa 22 autosom
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Microsoft Word - Document19
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author: Jan D. Marshall
updated: 22/03/2006
matching:
retin 22 autosom recess
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Alstrom Syndrome Conference Report page 16
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author: J rgen Naggert
subject: Alstrom Syndrome Conference Report
updated: 22/03/2006
matching:
retin 22 autosom recess
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Alstrom Syndrome Conference Report page 2
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author: J rgen Naggert
subject: Alstrom Syndrome Conference Report
updated: 22/03/2006
matching:
retin 22 autosom recess
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master_table - The Jackson Laboratory
and Friedman, T.B., Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration, Hum Mol Genet, 12 (2003) 2049-2061.
and Bronson, R.T., Osteochondrodystrophy (ocd): a new autosomal recessive mutation in the mouse, J Hered, 82 (1991) 140-4.
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http://www.clontech.com/clontech/atlas/genelists/excel/huglass3.8k.xls
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article ID:
updated: 24/05/2005
matching:
retin 22 autosom recess
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http://www.clontech.com/clontech/atlas/genelists/excel/human13k_readytoprint.xls
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article ID:
updated: 24/05/2005
matching:
retin 22 autosom recess
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