Genetics for ENT Specialists
Dirk Kunst
Genetics for ENT Specialists - 32–38 Osnaburgh Street, London, NW1 3ND, UK: Remedica, c2005 - 254 pages - Genetics Series REMEDICA genetics for-- series, .
The most prevalent ENT disorders are those that affect hearing. Approximately 1 in 1,000 children is born with a severe hearing impairment, and in at least half of these cases the cause is inherited. In recent years, considerable progress has been made in the field of molecular genetic studies on hereditary sensorineural hearing impairment, and it has recently become possible to make genetic diagnoses based on molecular tests in an increasing number of otologic disorders. This book provides practitioners with a concise overview of advances in this important field of medicine and will facilitate improved management of patients with ENT disorders.
9781901346640 1901346641
1472-4618 = Common terms and phrases abnormalities absent activity addition Age of onset allele amino acid and/or anomalies approximately associated Autosomal dominant Autosomal recessive base bilateral body bone cause cells Chromosomal location Genes Clinical features cochlea codon collagen common complex condition conductive confirm Congenital copies defects deletions described Diagnosis Counseling issues disease disorder DNA sequences early Effect of mutation Epidemiology Inheritance Chromosomal expression females Figure frequencies function genetic genome haploinsufficiency hearing impairment hypoplasia important increased individuals Inheritance Chromosomal location insertions involved known lead loss major males malformations manifest mild missense mutations mitochondrial moderate molecule Mutation analysis Mutational spectrum mutations lead myosin nerve nonsense normal nucleotide occur onset Epidemiology Inheritance osteopetrosis pairs patients phenotype present profound progressive protein region renal reported result seen sequence severe SNHI specific sporadic substitutions suggested symptoms syndrome tests tumors Unknown usually variable vestibular X-linked
-- Medical / Genetics--Medical › Genetics
Genetics for ENT Specialists - 32–38 Osnaburgh Street, London, NW1 3ND, UK: Remedica, c2005 - 254 pages - Genetics Series REMEDICA genetics for-- series, .
The most prevalent ENT disorders are those that affect hearing. Approximately 1 in 1,000 children is born with a severe hearing impairment, and in at least half of these cases the cause is inherited. In recent years, considerable progress has been made in the field of molecular genetic studies on hereditary sensorineural hearing impairment, and it has recently become possible to make genetic diagnoses based on molecular tests in an increasing number of otologic disorders. This book provides practitioners with a concise overview of advances in this important field of medicine and will facilitate improved management of patients with ENT disorders.
9781901346640 1901346641
1472-4618 = Common terms and phrases abnormalities absent activity addition Age of onset allele amino acid and/or anomalies approximately associated Autosomal dominant Autosomal recessive base bilateral body bone cause cells Chromosomal location Genes Clinical features cochlea codon collagen common complex condition conductive confirm Congenital copies defects deletions described Diagnosis Counseling issues disease disorder DNA sequences early Effect of mutation Epidemiology Inheritance Chromosomal expression females Figure frequencies function genetic genome haploinsufficiency hearing impairment hypoplasia important increased individuals Inheritance Chromosomal location insertions involved known lead loss major males malformations manifest mild missense mutations mitochondrial moderate molecule Mutation analysis Mutational spectrum mutations lead myosin nerve nonsense normal nucleotide occur onset Epidemiology Inheritance osteopetrosis pairs patients phenotype present profound progressive protein region renal reported result seen sequence severe SNHI specific sporadic substitutions suggested symptoms syndrome tests tumors Unknown usually variable vestibular X-linked
-- Medical / Genetics--Medical › Genetics