Monthly Archives: May 2014

A new syndrome caused by mutations in AHDC1

Posted: May 2, 2014 at 4:42 am

PUBLIC RELEASE DATE:

1-May-2014

Contact: Glenna Picton picton@bcm.edu 713-798-7973 Baylor College of Medicine

HOUSTON (May 1, 2014) -- A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

The study published online today in the American Journal of Human Genetics.

The Baylor researchers first studied a patient from Australia with these symptoms who had been seen by many doctors and had multiple diagnostic tests, without any diagnosis.

Although there was no family history of the disease, the researchers performed DNA sequence analysis on the patient and her parents to determine if there was an underlying genetic cause for her symptoms.

The results showed damaging mutations had newly arisen in five genes in the patient when compared with the parents DNA sequence.

One gene was a candidate for causing the disease because similar mutations were never seen in healthy control individuals.

"This led us to ask if there were any other undiagnosed disease cases that had similar mutations in this gene," said Dr. Fan Xia, assistant professor of molecular and human genetics and in the Whole Genome Laboratory at Baylor and the first author on the report.

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A new syndrome caused by mutations in AHDC1

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Unnecessary Censorship – Dragon Age: Origins Part 3 (CENSORED PARODY) – Video

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Unnecessary Censorship - Dragon Age: Origins Part 3 (CENSORED PARODY)
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Unnecessary Censorship - Dragon Age: Origins Part 3 (CENSORED PARODY) - Video

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Youtube Censorship Meets It’s Match – Video

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Youtube Censorship Meets It #39;s Match
In this video Dan Dicks of Press For Truth speaks with Stafan Molyneux of Freedomain Radio about the recent temporary shutdown of his youtube channel which c...

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Ron Paul on Al Awaki’s death – Video

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Ron Paul on Al Awaki #39;s death
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Ron Paul on Al Awaki's death - Video

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Ron Paul at New Hampshire grocery store, 12 1 2011 – Video

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Ron Paul at New Hampshire grocery store, 12 1 2011
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Ron Paul at New Hampshire grocery store, 12 1 2011 - Video

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Ron paul 2012 campaign straw poll speech – Video

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Ron paul 2012 campaign straw poll speech
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Ron paul 2012 campaign straw poll speech - Video

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Ron Paul speech in Mason City, Iowa 12 09 2011 – Video

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Ron Paul speech in Mason City, Iowa 12 09 2011
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Ron Paul speech in Mason City, Iowa 12 09 2011 - Video

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Ron Paul: Liberty Defined – Video

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Ron Paul: Liberty Defined
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The Synthesis of Rights and Consequences (with Tom G. Palmer) – Video

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The Synthesis of Rights and Consequences (with Tom G. Palmer)
Typically we think of justifications for libertarianism as falling into one of two kinds of categories: consequentialism and rights-based. Are these two justifications necessarily at odds with...

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Sir Roger Bannister has Parkinson's Disease

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Sir Roger Bannister has Parkinson's Disease

8:30am Friday 2nd May 2014 in News By Alex Wynick, Reporter covering Blackbird Leys and Greater Leys. Call me on 01865 425403

SPORTING icon Sir Roger Bannister has revealed he has Parkinsons Disease, just days before the 60th anniversary of his breaking of the four-minute mile barrier.

The 85-year-old was yesterday reluctant to dwell on the subject, preferring to concentrate on the events planned for Tuesdays commemoration.

But he told the Oxford Mail that he does have this disability, particularly with walking, from Parkinsons but I make as light of it as I can.

Sir Roger achieved sporting immortality when he ran a mile on the Iffley Road track in three minutes 59.4 seconds on May 6, 1954.

Exeter College, where he studied medicine in 1946, will host a lunch in his honour on Tuesday, the anniversary, and he will also attend the opening of the refurbished Vincents Club on the same day.

Exeter Colleges rector, Frances Caincross, said: We at Exeter College are amazingly proud of him, its such a great achievement.

University spokesman Matt Pickles added: The vice chancellor and other guests that Sir Roger wants to see will join him and his family for the lunch, where we will show footage of his famous race.

We are looking forward to celebrating the 60th anniversary of Sir Rogers legendary athletic achievement with him.

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Sir Roger Bannister has Parkinson's Disease

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