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Bruton X Linked - Articles

Genetics Home Reference: X-linked creatine deficiency by nih.gov Posted Wed 20 Jul 2011 2:26pm On this page: Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions Reviewed June 2011 What is X-linked creatine deficiency? X-linked creatine deficiency is an inherited disorder that pri ... Read on »
Genetics Home Reference: X-linked infantile spasm syndrome by nih.gov Posted Fri 14 Sep 2012 2:19pm On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed August 2012 What is X-linked infantile spasm syndrome? X-linked infantile spasm syndrome is a seizure d ... Read on »
Genetics Home Reference: X-linked chondrodysplasia punctata 1 by nih.gov Posted Wed 07 Dec 2011 8:54am On this page: Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions Reviewed November 2011 What is X-linked chondrodysplasia punctata 1? X-linked chondrodysplasia punctata 1 is a disor ... Read on »
Conditional V2 Vasopressin Receptor Mutant Mice as a Model to Study X-linked Nephrogenic Diabetes Insipidus (XNDI) by nih.gov Posted Sun 28 Feb 2010 4:00pm Description of Invention: X-linked nephrogenic diabetes insipidus (XNDI) is a severe kidney disease caused by inactivating mutations in the V2 vasopressin receptor (V2R) gene that result in the loss of renal urine-concentrating ability. At present, no specific pharmacological therapy has been developed for XNDI, primarily due ... Read on »
SAP/SH2D1A Knockout Mice: A Model for X-linked Lymphoproliferative Disease by nih.gov Posted Tue 15 Jun 2010 5:00pm Description of Invention: NIH announces the availability for licensing of SAP/SH2D1A knockout mice, which can be used as a model for X-linked lymphoproliferative disease (XLP), and exploited to design therapeutics or gene-therapy for XLP. These knockout mice can be used as well to study other T cell-mediated diseases, such as ... Read on »
Genetics Home Reference: X-linked chondrodysplasia punctata 2 by nih.gov Posted Wed 07 Dec 2011 8:54am On this page: Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions Reviewed November 2011 What is X-linked chondrodysplasia punctata 2? X-linked chondrodysplasia punctata 2 is a disor ... Read on »
Gene Therapy in Ophthalmology Update 10: Gene Therapy Research in Dogs Cures X-Linked Retinitis Pigmentosa – Paves the Way by Irv Arons Healthy Living Professional Posted Wed 14 Mar 2012 6:15pm Researchers at several universities and laboratories collaborated to treat dogs afflicted with the x-linked form of retinitis pigmentosa, to deliver the therapeutic RPGR gene specifically to the diseased rods and cones, which led to functional and structural recovery. This is the first proof that this condition is treatable in an animal model and ... Read on »
Study : A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. by MJ Posted Sun 13 May 2012 11:29am It isn't often that I read a paper on autism that presents a complete picture of what autism might be (for some people) from genetic cause to biological pathways to possible treatment.  But a paper on an inborn error of carnitine biosynthesis from last week might fit the bill. This paper ties together a genetic mutation, the effect of the muta ... Read on »
People in the NorthWest with X-linked retinoschisis by Irv Arons Healthy Living Professional Posted Sat 30 Mar 2013 4:37pm XLRS Natural History Study Beginning in Portland, Oregon March 29, 2013 – Oregon Health & Science University (OHSU) is launching a three-year natural history study for people with X-linked retinoschisis (XLRS) . Funded by the Foundation Fighting Blindness, the investigation’s primary goal is to identify outcome measures — such ... Read on »
Genetics Home Reference: isolated growth hormone deficiency by nih.gov Posted Wed 15 Feb 2012 10:52am On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed February 2012 What is isolated growth hormone deficiency? Isolated growth hormone deficiency is ... Read on »