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Kinase-Disease Associations
MYO3A STE Sensory Mut Three mutations associated with progressive deafness.
Knockout and inhibitor studies show role in pain perception (Medline:14762097, 9323205).
Inhibitor studies indicate role in pain perception (Medline:1043272).
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Mutations Causing Inner Ear Dysfunction - The Jackson Laboratory
Atp2b2(Pmca2) ATPase, Ca++ transporting, plasma membrane 2 6 50 dfw, KO deaf waddler, targeted inactivation sp, tm calcium transport Kozel et al.
Dfnb59 deafness, autosomal recessive 59 homolog 2 45 - tm1Ugds R183 knock-in tm dysfunction of auditory pathway neurons Delmaghani et al.
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Medical Literature
(1999): Alstroem Syndrome: First Italian Case Report.- Abstract:- Italian National Congress of Endocrinology, Torino, Italy (May 1999) Johnson J (1961): Diabetes, Neurogenous Deafness, and Retinal Degeneration.
(1983): Deafness and retinitis pigmentosa [Lipoacusia nella retinite pigmentosa] Acta Otorhinolaryngologica Italica,-3-(1):63-69.
Walsh LW (2007): Alstrom...
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http://www.clontech.com/clontech/atlas/genelists/7905-1_HuPlastic8K.txt
...
article ID:
updated: 13/03/2002
matching:
deaf x link 2 congenit
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Fundamentals
- - - Organoleptic measurement.- A subjective test scored on the basis of the examiner's perception of a subject's oral malodour.- Different semi-quantitative scales have been used, however, at the most recent International Workshop on Oral Halitosis (1999), there was consensus on using a scale ranging from 0 to 5.
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MITF Antibody Microphthalmia-associated transcription factor,
It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness.
ProSci eCommerce Services View Cart Checkout Collaboration Quick Links Featured Products New Antibodies New Lysates New Detection Sets Featured Product Categories Apoptosis Antibodies Autophagy Antibodies Cancer Antibodies Monoclonal...
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TMPRSS3 Antibody TMPRSS3
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.
ProSci eCommerce Services View Cart Checkout Collaboration Quick Links Featured Products New Antibodies New Lysates New Detection Sets Featured Product Categories Apoptosis Antibodies Autophagy Antibodies Cancer...
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Auditory Screening of Mouse Strains - The Jackson Laboratory
Genetic resources & information JAX® Mice and Services Find JAX ® Mice Ordering information JAX ® Services Technical support & literature Animal health & genetic quality Research affiliates program Home - - Research and resource initiatives - Genetic resources & information - Hereditary hearing impairment Auditory screening project - The fairly common occurrence of...
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Promega eNotes - Feature
A few other pieces of evidence point to a genetic basis for AP, including the fact that congenital amusia, the inability to recognize pitch at all (absolutely or relatively), shows a higher incidence in identical than fraternal twins (2).
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Promega eNotes - Feature
A few other pieces of evidence point to a genetic basis for AP, including the fact that congenital amusia, the inability to recognize pitch at all (absolutely or relatively), shows a higher incidence in identical than fraternal twins (2).
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Neurolab (STS-90): April 1998
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author: Promega Corporation
subject: Neurolab (STS-90): April 1998
updated: 22/04/2002
matching:
deaf 2 percept
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Epstein-Barr Virus Antigens
...
article ID:
updated: 05/12/2008
matching:
deaf 2 congenit
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Epstein-Barr Virus Antigens
...
article ID:
updated: 05/12/2008
matching:
deaf 2 congenit
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Epstein-Barr Virus Antigens
...
article ID:
updated: 05/12/2008
matching:
deaf 2 congenit
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Epstein-Barr Virus Antigens
...
article ID:
updated: 05/12/2008
matching:
deaf 2 congenit
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Epstein-Barr Virus Antigens
...
article ID:
updated: 05/12/2008
matching:
deaf 2 congenit
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Epstein-Barr Virus Antigens
...
article ID:
updated: 05/12/2008
matching:
deaf 2 congenit
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Epstein-Barr Virus Antigens
...
article ID:
updated: 05/12/2008
matching:
deaf 2 congenit
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Epstein-Barr Virus Antigens
...
article ID:
updated: 05/12/2008
matching:
deaf 2 congenit
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Epstein-Barr Virus Antigens
...
article ID:
updated: 05/12/2008
matching:
deaf 2 congenit
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Epstein-Barr Virus Antigens
...
article ID:
updated: 22/07/2008
matching:
deaf 2 congenit
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Cytomegalovirus1.ai
...
author: STorrence
updated: 22/07/2008
matching:
deaf 2 congenit
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Cytomegalovirus1.ai page 1
...
author: STorrence
updated: 22/07/2008
matching:
deaf 2 congenit
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Recombinant Cytomegalovirus Antigen from RDI Divison of Fitzgerald Industries Intl
CMV infections are frequent and occasionally severe in children or adults with congenital or acquired defects of cellular immunity, such as patients with AIDS, cancer patients, and recipients of organ transplants.
Medical conditions caused by CMV include: interstitial pneumonia, mononucleosis (heterophile negative), congenital defects, abortion, mental retardation,...
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http://www.hytest.fi/data_sheets/INFECTIOUS.pdf page 20
...
updated: 30/12/2005
matching:
deaf 2 congenit
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