Sensorineural deafness
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature
... In conclusion, this study reports a heterozygous whole gene deletion of the GATA3 gene responsible for the HDR syndrome in a Sri Lankan family with wide intra- familial phenotypic variability. This case emphasizes that ...
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Original Article Molecular genetics study of the locus of the midrange sensorineural deafness unique to the non-syndromes of ethnic minorities in Yunnan province
... severe sensorineural deafness in ...on deafness genes in ethnic minority deaf ...non-syndromic sensorineural deafness in Shanxi province and observed that the propor- tion of deaf ...
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
... pathogenesis; however, additional genes and disease mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in coenzyme Q 10 biosynthesis monooxygenase 6 ...
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Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report
... with sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant condition caused by mutations of the gene encoding the dual zinc-finger transcription factor, ...
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A New Mouse Insertional Mutation That Causes Sensorineural Deafness and Vestibular Defects
... study sensorineural deafness, and tional mutations generated by the pronuclear microin- specifically, to help in the identification of gene(s) es- jection procedure is that there can be large deletions ...
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Cvejic, Dejan (2009): Congenital sensorineural deafness in client-owned pure-breed white cats. Dissertation, LMU München: Tierärztliche Fakultät
... includes sensorineural hearing loss and pigmentary abnormalities of the skin, hair, and eyes (READ and NEWTON, ...for deafness in cats, and many more genes with mutations known to result in human ...
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Hypokalemic Salt-Losing Tubulopathy With Chronic Renal Failure and Sensorineural Deafness
... In the index case of kindred IV (IV-1), prenatal course and postnatal renal salt and water wasting suggested the diagnosis of HPS/aBS. The patient, however, was not treated with indomethacin be- cause of impaired renal ...
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Clinical Reasoning: Seizures in a child with sensorineural deafness and agitation
... At follow-up at age 5 years, she looked healthy and calm. She had not experienced any further syn- copal episodes. Neurologic examination was normal, except for bilateral deafness. Psychomotor develop- ment was ...
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Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)
... postlingual sensorineural hearing ...prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected ...
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Brown-Vialetto-Van Laere syndrome
... The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in ...
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Acupuncture and Transdermal Electrostimulation in the Treatment of Deafness
... Rintelmann and his co-workers4 reported on the results obtained from a 50-year-old man with sensorineural deafness seen for audiometric testing prior to and following eight acupuncture t[r] ...
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Molecular genetic studies of deafness
... congenital sensorineural deafness and thyroid goitre, was first mapped to chromosome 7q31 (Coyle at al, 1996; Sheffield at al, 1996), overlapping with a locus for autosomal recessive non-syndromic ...
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Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
... regulation in CHARGE syndrome in tissues of various de- velopment stages and their tissue expression sites. Genetic counseling was important for parents, even before we con- firmed the diagnosis of CHARGE syndrome, ...
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Waardenburg syndrome: a rare genetic disorder in four generations of a family
... Waardenburg Syndrome (WS) is a rare autosomal dominant disorder manifesting with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest derived tissues. ...
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PENDRED'S SYNDROME REVISITED
... Pendred's syndrome is an autosomal recessive form of sensorineural deafness associated with goiter in that the perchlorate test shows an abnormal organification of non-organic iodine. Perchlorates when ...
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Deafness, language & communication
... The use of the term ‘deaf’ to denote a group defined by their audiological profile is in the main widely accepted. For many within the Deaf community who use sign language (e.g. British Sign Language, BSL), the use of ...
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THE MITOCHONDRIAL SUGAR DISEASE AND MOLECULAR MECHANISM
... Diabetes and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) or mitochondrial diabetes is a subtype of diabetes which is caused from a point mutation at position 324[r] ...
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A destressing "deafness" in French?
... French sub- jects, contrary to Spanish subjects, have difficulty in making discriminations based on accent as indicated by slow reac- tion times and numerous errors (Experiment 1).. This[r] ...
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Deafness in a hearing workplace
... administrator. She reported difficulty understanding work emails and consequently being able to reply in the appropriate way. Sarah wondered whether her problem was linked not only to her deafness but to some ...
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DEAFNESS FOLLOWING EPIDEMIC PAROTITIS (MUMPS)
... DEAFNESS FOLLOWING EPIDEMIC PAROTITIS (MUMPS): Report of a Case in. http://pediatrics.aappublications.org/content/3/2/177[r] ...
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