ライフサイエンスコーパス: Alstrom syndrome

コーパス検索結果 (１語後でソート)

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1 confirming that ALMS1 is the gene underlying Alstrom syndrome.

2 on a French Acadian kindred segregating for Alstrom syndrome.

3 t step in identifying the molecular basis of Alstrom syndrome.

4 s causes the majority of the hearing loss in Alstrom Syndrome.

5 hlea and the pathogenesis of hearing loss in Alstrom Syndrome.

6 Further association analysis implicated Alstrom syndrome 1 gene (ALMS1) as a candidate gene with

7 Mutations in the human gene ALMS1 cause Alstrom syndrome, a disorder characterised by neurosenso

8 n for several inherited disorders, including Alstrom syndrome, a disorder that includes ocular, uroge

9 ve nutrition, exercise and drug therapies in Alstrom syndrome and suggest novel approaches to underst

10 way leading toward the understanding of both Alstrom syndrome and the common diseases that characteri

11 Mutations in the human ALMS1 gene cause Alstrom syndrome (AS), a progressive disease characteriz

12 ion, such as Bardet-Biedl syndrome (BBS) and Alstrom syndrome, as well as in several cilia mutant mou

13 We have studied an individual with Alstrom syndrome carrying a familial balanced reciprocal

14 apitulate the neurosensory deficits of human Alstrom Syndrome, cochleae displayed several cyto-archit

15 atients with ocular disorders and those with Alstrom syndrome for mutations in LBX2.

16 two nonsense mutations, that segregate with Alstrom syndrome in six unrelated families.

17 the coding region of LBX2 do not account for Alstrom syndrome in the six kindreds analyzed.

18 ese insights are of particular importance in Alstrom syndrome in which all of these conditions coexis

19 Alstrom syndrome is a homogeneous autosomal recessive di

20 Alstrom Syndrome is a life-threatening disease character

21 Alstrom syndrome is a rare autosomal recessive disorder

22 didate region for various diseases including Alstrom syndrome, limb-girdle muscle dystrophy, and Miyo

23 Alstrom syndrome (OMIM 203800) is an autosomal recessive

24 The gene involved in Alstrom syndrome probably interacts with genetic modifie

25 sity ciliopathies, Bardet-Biedl Syndrome and Alstrom Syndrome, to the production and maintenance of p

26 nce, glucose metabolism and dyslipidaemia in Alstrom syndrome will be discussed as well as genotypic

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