ライフサイエンスコーパス: recessive deafness

1 a region overlapping the DFNB7/B11 locus for recessive deafness.

2 esorption in the kidney, and cause autosomal recessive deafness.

3 e observed in the families with nonsyndromic recessive deafness.

4 e mutation that cosegregated with congenital recessive deafness.

5 the GJB2 gene cause one form of nonsyndromic recessive deafness.

6 15 cause Usher Syndrome (deaf-blindness) and recessive deafness.

7 rsatile approaches for treating dominant and recessive deafness.

8 breakthroughs in gene therapy for autosomal recessive deafness 9 (DFNB9) caused by OTOF mutations ha

9 ren with neurosensory nonsyndromic autosomal recessive deafness 9 (DFNB9), harboring variants in the

10 onal improvements in patients with autosomal recessive deafness 9 (DFNB9).

11 65 capsid in ten participants with autosomal recessive deafness 9 aged 1.5 to 23.9 years at five site

12 Autosomal recessive deafness 9, caused by mutations of the OTOF ge

13 novel treatment for children with autosomal recessive deafness 9.

14 ) as a treatment for children with autosomal recessive deafness 9.

15 (CaV1.3) and is defective in human autosomal-recessive deafness 93 (DFNB93).

16 tically heterogeneous disease with autosomal recessive deafness and blindness.

17 afness, we screened 25 Chinese families with recessive deafness and identified in two families affect

18 These mutant mice suffer from recessive deafness, and MET is drastically impaired in c

19 ional myosin that causes a form of autosomal recessive deafness called DFNB3.

20 The carrier rate for all recessive deafness-causing GJB2 mutations was determined

21 ausative genes also involved in nonsyndromic recessive deafness (DFNB).

22 ution may be a mutant allele responsible for recessive deafness DFNB1.

23 bled the frequency of the commonest forms of recessive deafness (DFNB1) in this country during the pa

24 Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with

25 enic seizure 1, jams1) in mice and autosomal recessive deafness DFNB15 and DFNB95 in humans.

26 One locus for non-syndromic recessive deafness, DFNB2, has been localized to the sam

27 ng modifiers include DFNM1, which suppresses recessive deafness DFNB26, and a nuclear gene that modul

28 mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large consanguineous Pa

29 human pejvakin gene that cause nonsyndromic recessive deafness (DFNB59) by affecting the function of

30 ng protein superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian family.

31 th mutations in the TMPRSS3 gene suffer from recessive deafness DFNB8/DFNB10.

32 deletion encompassing exon 14 of Tmc1 in the recessive deafness (dn) mouse mutant, which lacks audito

33 Ashkenazi Jewish families with nonsyndromic recessive deafness, from Ashkenazi Jewish persons seekin

34 The nonsyndromic congenital recessive deafness gene, DFNB3, first identified in Beng

35 ns 26 and 30, are the most frequent cause of recessive deafness in many populations.

36 nt for the majority of cases of nonsyndromic recessive deafness in the Ashkenazi Jewish population.

37 So far, 30 nonsyndromic recessive deafness loci have been mapped and the defecti

38 g whirlin also underlies the human autosomal recessive deafness locus DFNB31.

39 13 in three Pakistani families defines a new recessive deafness locus, DFNB37.

40 FNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on

41 ntly shown to be mutant in both dominant and recessive deafness, maps to this locus.

42 es waltzer (av) mouse mutant is an autosomal recessive deafness mutation on mouse Chromosome 10.

43 nal myosin, myosin VIIA, underlies the mouse recessive deafness mutation, shaker-1 as well as Usher s

44 Non-syndromic recessive deafness (NSRD) is the most common form of pre

45 inant or recessive skin disease, dominant or recessive deafness or dominant neuropathy with deafness.

46 ore than 80 percent of cases of nonsyndromic recessive deafness result from inheritance of the 30delG

47 families segregating nonsyndromic autosomal recessive deafness were analyzed to refine the DFNB12 lo

48 regions associated with human autosomal and recessive deafness, which may prove useful for the ident