p phenotype

Common Name(s)

p phenotype

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "p phenotype" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "p phenotype" returned 45 free, full-text research articles on human participants. First 3 results:

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
 

Author(s): Philippine Eloy, Catherine Dehainault, Meriem Sefta, Isabelle Aerts, François Doz, Nathalie Cassoux, Livia Lumbroso le Rouic, Dominique Stoppa-Lyonnet, François Radvanyi, Gaël A Millot, Marion Gauthier-Villars, Claude Houdayer

Journal:

 

Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral ...

Last Updated: 1 Mar 2016

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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
 

Author(s): Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso

Journal:

 

This research is the single largest NR2E3 genotype-phenotype correlation study performed to date in autosomal dominant Retinitis Pigmentosa.

Last Updated: 25 Feb 2016

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An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
 

Author(s): Karen W Gripp, Katia Sol-Church, Patroula Smpokou, Gail E Graham, David A Stevenson, Heather Hanson, David H Viskochil, Laura C Baker, Bridget Russo, Nick Gardner, Deborah L Stabley, Verena Kolbe, Georg Rosenberger

Journal: Am. J. Med. Genet. A. 2015 Sep;167A(9):2085-97.

 

Heterozygous germline mutations in the proto-oncogene HRAS cause Costello syndrome (CS), an intellectual disability condition with severe failure to thrive, cardiac abnormalities, predisposition to tumors, and neurologic abnormalities. More than 80% of patients share the HRAS mutation ...

Last Updated: 20 Aug 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "p phenotype" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

DNA Repair, p53 and Apoptosis Phenotypes in Lung Cancer
 

Status: Recruiting

Condition Summary: Lung Neoplasms

 

Last Updated: 17 Jun 2016

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Customized Choice of Oral P2Y12 Receptor Blocker
 

Status: Recruiting

Condition Summary: Acute Coronary Syndrome; Coronary Angioplasty

 

Last Updated: 1 Sep 2014

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