Cornelia de Lange Syndrome
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Pediatrics Medical News about Cornelia de Lange Syndrome
mdlinx.com — “Barrett's esophagus and Cornelia de Lange Syndrome” View full resource at mdlinx.com
Most Recently Shared on May 26, 2010 at 2:00 am By:
Sandeep Pulim MD Doctor, Health Communicator, and Physician
Barrett's esophagus and Cornelia de Lange Syndrome: Acta Pediatrica http://bit.ly/d42eNR #peds
Fletcher Lives with Cornelia De Lange Syndrome | Children--™s Hospital at Johns Hopkins | Baltimore, Maryland
hopkinschildrens.org — “Fletcher Lives with Cornelia De Lange Syndrome | Children--™s Hospital at Johns Hopkins | Baltimore, Maryland” View full resource at hopkinschildrens.org
Most Recently Shared on February 24, 2011 at 1:56 pm By:
Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome - Oliveira - 2010 - Human Mutation - Wiley Online Library
onlinelibrary.wiley.com — “Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome - Oliveira - 2010 - Human Mutation - Wiley Online Library” View full resource at onlinelibrary.wiley.com
Most Recently Shared on October 30, 2010 at 5:52 am By:
Development of NIPBL Locusâ€*Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Co... http://bit.ly/bSJDaa
Multiple Human Cognitive Disorders Linked By A Common Thread
medicalnewstoday.com — “A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Rett syndrome (RTT)” View full resource at medicalnewstoday.com
Most Recently Shared on February 16, 2010 at 7:10 pm By:
MNT Neurology News Neurology and Health News
Multiple Human Cognitive Disorders Linked By A Common Thread http://mnt.to/3xGC #neurology
Surprise in genome structure linked to developmental diseases | Bioscience Technology Online
biosciencetechnology.com — “(Whitehead Institute for Biomedical Research) The genes that are responsible for maintaining each cell type form DNA loops that link control elements for these genes. The DNA loop structure is essential for regulating the activity of cell-type-specific genes and thus maintaining cell state. Problems with the loop structure can cause multiple syndromes and diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, schizophrenia and Cornelia de Lange syndrome.” View full resource at biosciencetechnology.com
Most Recently Shared on August 18, 2010 at 8:45 pm By:
Richard G. Lanzara Health Professional
RT @biosciencetech Surprise in genome structure linked to developmental diseases http://bit.ly/bzV9fe #science #genomics #biotech #biology
Ulerythema: eMedicine Dermatology
emedicine.medscape.com — “Overview: Ulerythema ophryogenes, a rare cutaneous disorder, is characterized by inflammatory keratotic facial papules that may result in scars, atrophy, and alopecia. This disorder has been described in association with other congenital anomalies such as Noonan syndrome, ...” View full resource at emedicine.medscape.com
Most Recently Shared on April 21, 2010 at 11:18 pm By:
Julie Bohlen Health Executive and Active Health Library
Ulerythema ophryogenes is a relatively infrequent disorder that mainly affects children and young adults. Learn causes. http://bit.ly/aewdJc
In Rare Disease, a Familiar Protein Disrupts Gene Function
newswise.com — “An international team of scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans. The finding that cohesin, a protein complex, dysregulates gene expression may improve diagnosis of the multisystem genetic disease Cornelia de Lange syndrome.” View full resource at newswise.com
Most Recently Shared on May 27, 2009 at 12:52 am By:
In Rare Disease, a Familiar Protein Disrupts Gene Function http://bit.ly/bPDOa
Scientists Surprised By Chromosome 'Glue'
medicalnewstoday.com — “Proteins called cohesins ensure that newly copied chromosomes bind together, separate correctly during cell division, and are repaired efficiently after DNA damage. Scientists at the Carnegie Inst” View full resource at medicalnewstoday.com
Most Recently Shared on May 8, 2010 at 12:05 pm By:
Scientists Surprised By Chromosome 'Glue' http://mnt.to/3Ckx #genetics
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Sandeep Pulim MD
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Hopkins Children's
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