Background[br/] Domestication and artificial selection have resulted in strong genetic drift, relaxation of purifying selection and accumulation of deleterious mutations. As a consequence, bovine breeds experience regular outbreaks of recessive genetic defects which might represent only the tip of the iceberg since their detection depends on the observation of affected animals with distinctive symptoms. Thus, recessive mutations resulting in embryonic mortality or in non-specific symptoms are likely to be missed. The increasing availability of whole-genome sequences has opened new research avenues such as reverse genetics for their investigation. Our aim was to characterize the genetic load of 15 European breeds using data from the 1000 bul...
Canine progressive retinal atrophies (PRA) are a group of hereditary diseases characterised by rod a...
International audienceRetinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disord...
International audienceBACKGROUND: Several forms of progressive retinal atrophy (PRA) segregate in mo...
Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic var...
Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic var...
Retinitis pigmentosa (RP) is the leading cause of blindness with nearly two million people affected ...
Additional file 3: Tables S3, S4, S5, S6 and S7. Additional information on the results of the gene e...
Background For decades, identifying genes and mutations underlying inherited diseases and economica...
Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic var...
Canine progressive retinal atrophy (PRA) describes a group of hereditary diseases characterized by p...
In modern cattle production, we have seen a negative trend for decades in reproduction while product...
Considerable clinical and molecular variations have been known in retinal blinding diseases in man a...
AbstractProgressive rod–cone degeneration (prcd) is a late-onset, autosomal recessive photoreceptor ...
As the thesis contains real data and those data is still being used in the process of further confir...
Retinitis pigmentosa (RP) is the leading cause of blindness with nearly two million people affected ...
Canine progressive retinal atrophies (PRA) are a group of hereditary diseases characterised by rod a...
International audienceRetinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disord...
International audienceBACKGROUND: Several forms of progressive retinal atrophy (PRA) segregate in mo...
Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic var...
Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic var...
Retinitis pigmentosa (RP) is the leading cause of blindness with nearly two million people affected ...
Additional file 3: Tables S3, S4, S5, S6 and S7. Additional information on the results of the gene e...
Background For decades, identifying genes and mutations underlying inherited diseases and economica...
Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic var...
Canine progressive retinal atrophy (PRA) describes a group of hereditary diseases characterized by p...
In modern cattle production, we have seen a negative trend for decades in reproduction while product...
Considerable clinical and molecular variations have been known in retinal blinding diseases in man a...
AbstractProgressive rod–cone degeneration (prcd) is a late-onset, autosomal recessive photoreceptor ...
As the thesis contains real data and those data is still being used in the process of further confir...
Retinitis pigmentosa (RP) is the leading cause of blindness with nearly two million people affected ...
Canine progressive retinal atrophies (PRA) are a group of hereditary diseases characterised by rod a...
International audienceRetinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disord...
International audienceBACKGROUND: Several forms of progressive retinal atrophy (PRA) segregate in mo...