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To analyze the clinical features and pathological mutations in 44 families affected with hearing loss from southern Zhejiang, and to provide genetic counseling and prenatal diagnosis for 6 of the families.
This article was published in the following journal.
Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Gangliosidosis is an inherited metabolic disorder causing neurodegeneration and motor regression. Preventive diagnosis is the first choice for the affected families due to lack of straightforward ther...
Jalili syndrome (JS) is an autosomal recessive disease characterized by a combination of cone-rode retinal dytrophy (CRD) and amelogenesis imperfect (AI). Mutations in cyclin and CBS domain divalent m...
Thyroid dyshormonogenesis due to thyroglobulin (TG) gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from euthyroid to mild or severe hyp...
To investigate whether a novel compound heterozygous mutations c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) in GJB2 result in hearing loss.
The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria ass...
Hereditary haemorrhagic telangiectasia is a disease inherited as an autosomal dominant disease. Analysing DNA from affected and unaffected family members allows us to identify the locatio...
RATIONALE: Gene mutations may make prostate cancer cells unable to attach to androgens. This may permit the growth of prostate cancer. Gene testing may improve the identification of patien...
The existence of a family factor in the genesis of varicose veins is certain, but few studies have addressed reliably instead of the genetic factor in clinical and molecular level. The inv...
RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the develo...
This Clinical Trial is being conducted to study Hypophosphatasia (HPP), a bone disorder caused by gene mutations or changes. These gene mutations cause low levels of an enzyme needed to h...
The use of the GENETIC VARIATION of known functions or phenotypes to correlate the causal effects of those functions or phenotypes with a disease outcome.
A gap junction protein encoded by the Gap Junction Beta 2 or GJB2 gene. In the cochlea and epidermis, its hexamers form channels between cells that open to allow cell-to-cell diffusion of small molecules as well as recycling of potassium. Mutations in Connexin 26 are associated with congenital SENSORINEURAL HEARING LOSS.
MOLECULAR BIOLOGY techniques used in the diagnosis of disease. Included are such techniques as IN SITU HYBRIDIZATION of chromosomes for CYTOGENETIC ANALYSIS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS of gene expression patterns in disease states; identification of pathogenic organisms by analysis of species specific DNA sequences; and detection of mutations with POLYMERASE CHAIN REACTION.
Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
Hearing, auditory perception, or audition is the ability to perceive sound by detecting vibrations, changes in the pressure of the surrounding medium through time, through an organ such as the ear. Sound may be heard through solid, liquid, or gaseous mat...