Common Autosomal Recessive Disorders - Articles

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Genetics Home Reference: autosomal recessive primary microcephaly by nih.gov Posted Tue 10 May 2011 4:53pm information Other names Glossary definitions Reviewed April 2011 What is MCPH? Autosomal recessive primary microcephaly (often shortened to MCPH... can result from mutations in at least seven genes. Mutations in the ASPM gene are the most common cause of the disorder, accounting for about half of all cases. The genes Read on »

Gene Therapy in Ophthalmology Update 6: First-Ever Clinical Trial for the Autosomal Recessive Form of Retinitis Pigmentosa (arRP by Irv Arons Healthy Living Professional

Posted Fri 23 Dec 2011 12:52pm Therapy Clinical Trial for Recessive RP is Underway December 22, 2011 - The field of gene therapy for retinal degenerative diseases is taking a big step forward with the launch of the first-ever clinical trial for people with an autosomal recessive form of retinitis pigmentosa (arRP). The human study, underway at King Khaled Eye Specialist Hospital in Riyadh Read on »

Use of school recess time in the education and treatment of children with autism spectrum disorders: A systematic review by Kev Leitch Healthy Living Professional

Posted Mon 13 Jun 2011 8:45pm Use of school recess time in the education and treatment of children with autism spectrum disorders: A systematic review is, as you will see, a small study on what is a relatively unstudied area: recess as part of the educational day for autistic students. This caught my eye for a simple reason: I think a lot about recess. I think about special Read on »

GBM Collagens & Alport's Syndrome by Matt S. Posted Fri 15 May 2009 12:00am gene on the X-chromosome. It is also possible to have autosomal recessive inheritance due to inherited mutations from both patients of either the COL4A3 or COL4A4 genes...-linked, autosomal recessive, or autosomal dominant manner. Why is the inheritance pattern so complex and what does it tell us about the biology of this interesting disease Read on »

Genetics Home Reference: Nager syndrome by nih.gov Posted Mon 19 Jul 2010 11:52am commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance.... In autosomal dominant Nager syndrome, an affected person usually inherits the condition from one affected parent. Autosomal recessive inheritance means both copies of a gene in each Read on »

The retinoblastoma gene is autosomal dominant? Really? by pathologystudent Posted Wed 27 Oct 2010 9:43pm recessive trait on a cellular level? That makes no sense to me. A. Before we get to the answer, let’s take a look at what some reputable sources say about autosomal dominant... condition), retinoblastoma results. D. Therefore, retinoblastoma is inherited as an autosomal recessive trait at the cellular level; nevertheless, retinoblastoma behaves clinically Read on »

Brain disorder suggests common m ... by Dr. Rubens D. Medical Doctor

Posted Wed 14 Jan 2009 5:59pm Brain disorder suggests common mechanism may underlie many neurodegenerative diseases JACKSONVILLE, Fla., 12 jan 2009 — A Mayo Clinic-led international consortium has found... help explain the origins of a variety of neurodegenerative disorders, such as Parkinson's and amyotrophic lateral sclerosis diseases, and even common depression and sleep Read on »

What do “voices” and “disordered thinking” have in common? by Ron Unger Patient Expert

Posted Thu 30 Dec 2010 3:16pm I was at a seminar recently where Ron Coleman asserted that the experience of hearing voices may commonly be the cause of what seems to be disordered thinking, so that in fact there may be nothing wrong with a person’s ability to think in an orderly way, it is just that the experience of hearing [...] Read on »

10 Common Myths About Eating Disorders by Jacquelyn Ekern Posted Thu 03 Dec 2009 10:24am Check out this interesting article 10 Common Myths About Eating Disorders at http://www.physicaltherapyassistantschoo ls.org/10-common-myths-about-eating-diso rders/ . Do you agree or disagree with the points of this article? Why? Read on »

Mental Disorders Common Predictor of Suicidal Thoughts | Psych Central News by Larry Drain Healthy Living Professional

Posted Thu 20 May 2010 12:04pm I found the following article when looking through a back log of other material. It is again a good indication of the consequences of not providing adequate mental health care to people who need it badly. Mental Disorders Common Predictor of Suicidal Thoughts | Psych Central News . Read on »