The identification of ‘disease genes ’ and the mutations within them has greatly enhanced our understanding of normal function in the eye and ear. At the same time, it has become clear that these single-gene mutations must reside in a permissive genetic background for a disease phenotype to manifest. Segregating background genes can also modify the age of onset, rate of progression or severity of these diseases. These background genes that interact with the disease mutation and that are responsible for the specific phenotypes observed are commonly called genetic modifiers. Identification of these modifier genes may define the biological pathways that lead from the primary genetic defect to the aberrant phenotype. Once the identities of modi...
Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the...
Significant progress has been made in recent years in the discovery of genes causing early-onset inh...
The developmental and physiological complexity of the auditory system is likely reflected in the und...
The identification of \u27disease genes\u27 and the mutations within them has greatly enhanced our u...
OBJECTIVE: The fundamental processes involved in the mechanism of hearing seem to be controlled by h...
International audienceBlindness and deafness are the most frequent sensory disorders in humans. What...
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syn...
Since the identification of the first deafness gene in the '90s, a relevant number of genes have bee...
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syn...
A number of genetic disorders exhibit inter- and intra-familial variability. Understanding the facto...
Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as geneti...
AbstractHearing loss (HL) is the most common sensory disorder, affecting all age groups, ethnicities...
Mice heterozygous for missense mutations of the Notch ligand Jagged1 (Jag1) exhibit head-shaking beh...
Genetic modifiers can be detected in mice by looking for strain background differences in inheritanc...
earing impairment is a common sensory deficit with both genetic and environmental aetiologies. Pre-l...
Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the...
Significant progress has been made in recent years in the discovery of genes causing early-onset inh...
The developmental and physiological complexity of the auditory system is likely reflected in the und...
The identification of \u27disease genes\u27 and the mutations within them has greatly enhanced our u...
OBJECTIVE: The fundamental processes involved in the mechanism of hearing seem to be controlled by h...
International audienceBlindness and deafness are the most frequent sensory disorders in humans. What...
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syn...
Since the identification of the first deafness gene in the '90s, a relevant number of genes have bee...
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syn...
A number of genetic disorders exhibit inter- and intra-familial variability. Understanding the facto...
Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as geneti...
AbstractHearing loss (HL) is the most common sensory disorder, affecting all age groups, ethnicities...
Mice heterozygous for missense mutations of the Notch ligand Jagged1 (Jag1) exhibit head-shaking beh...
Genetic modifiers can be detected in mice by looking for strain background differences in inheritanc...
earing impairment is a common sensory deficit with both genetic and environmental aetiologies. Pre-l...
Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the...
Significant progress has been made in recent years in the discovery of genes causing early-onset inh...
The developmental and physiological complexity of the auditory system is likely reflected in the und...