Feb. Reviews

The Medical Genetics Center

 

Dr. Osama K Zaki                    

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FOR IMMEDIATE RELEASE

Reviews of Literature

By Dr. Osama Zaki

February,14,2001 -- The following is a brief list of the most recent publications that came to our attention during the last months.  To read  the topics or their abstracts, just click the underlined link.

 

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Public Access to the Human Genome - NIH
The DNA sequence of the Human Genome is now freely accessible to all, for public or private use, from the National Center for Biotechnology Information (NCBI). The Center is a part of the National Library of Medicine at the National Institutes of Health...
 
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Offspring of men with birth defects twice as likely to have defects, too - EurekAlert
Men born with a birth defect have a substantially increased risk of having a child with a birth defect, a large population study revealed today. Compared with other fathers, the risk was doubled. The second-generation risk also appeared higher - at least for dissimilar birth defects - than for the offspring of mothers who had been born with birth defects...
 
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Genome Sequence Available on the Web - Yahoo/Reuters
Read any good books lately? How about the 'Book of Life'? The most up-to-date, in-sequence map of the human genome is available for public viewing with the click of a mouse...

 

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Comprehensive Mutation Screening in a Cystic Fibrosis Center - Pediatrics
The identities of a cystic fibrosis (CF) patient's CFTR mutations can influence therapeutic strategies, but because >800 CFTR mutations exist, cost-effective, comprehensive screening requires a multistage approach...

 

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Fewer Genes Than We Thought -- International Consortium Publishes Sequence And Analysis Of The Human Genome - ScienceDaily
The Human Genome Project international consortium today announced the publication of a draft sequence and initial analysis of the human genome-the genetic blueprint for a human being...

 

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Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis - Kidney International
Juvenile nephronophthisis (NPH1), an autosomal recessive cystic disease of the kidney, represents the most common genetic cause of end-stage renal disease in the first two decades of life. On the basis of identification of the gene (NPHP1) defective in NPH1 and the presence of homozygous deletions of NPHP1 in the majority of NPH1 patients, molecular genetic diagnosis for NPH1 is now possible...

 

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T-cell lymphoblastic lymphoma associated with the t(6;11) (q27;q23) - Haematologica
We report the case of a 9-year old girl presenting with mediastinal mass and pleural effusion. Flow cytometric analysis from a pleural aspirate revealed a T-cell neoplasia with an uncommon phenotype (CD34, CD38, CD45, CD7, CD56, CD7, CD1a, cytCD79a)...

 

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