p phenotype

Common Name(s)

p phenotype

Description for this condition is not yet available.
 

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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

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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 48 free, full-text research articles on human participants. First 3 results:

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.
 

Author(s): Johanna Palmio, Satu Sandell, Michael G Hanna, Roope Männikkö, Sini Penttilä, Bjarne Udd

Journal: Neurology. 2017 Apr;88(16):1520-1527.

 

To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation.

Last Updated: 23 Mar 2017

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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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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 1 free, full-text review articles on human participants. First 3 results:

A hemolytic anti-LKE associated with a rare LKE-negative, "weak P" red blood cell phenotype: alloanti-LKE and alloanti-P recognize galactosylgloboside and monosialogalactosylgloboside (LKE) antigens.
 

Author(s): Laura Cooling, Louann R Dake, Donna Haverty, Nancy Mullis, Susie Ellis, James Shayman, W John Judd

Journal: Transfusion. 2015 Jan;55(1):115-28.

 

"Weak P" is a rare red blood cell (RBC) phenotype, characterized by a global decrease in P(k) and P antigens. We now describe a second weak P individual who also typed LKE-negative (LKE-N) and possessed a clinically significant anti-LKE.

Last Updated: 13 Jan 2015

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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: 21 Apr 2017

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Evaluation of Pupillometry for cyp2d6 Phenotyping in Children Treated With Tramadol
 

Status: Recruiting

Condition Summary: Drug Intolerance; Cytochrome P450 CYP2D6 Enzyme Deficiency; Drug Effect

 

Last Updated: 2 May 2017

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