戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (1語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 hlea and the pathogenesis of hearing loss in Alstrom Syndrome.
2 confirming that ALMS1 is the gene underlying Alstrom syndrome.
3  on a French Acadian kindred segregating for Alstrom syndrome.
4 t step in identifying the molecular basis of Alstrom syndrome.
5 s causes the majority of the 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 ort on a monogenic form of IR-prone obesity, Alstrom syndrome (ALMS).
10 ve nutrition, exercise and drug therapies in Alstrom syndrome and suggest novel approaches to underst
11 way leading toward the understanding of both Alstrom syndrome and the common diseases that characteri
12                                              Alstrom syndrome (AS) is a rare monogenic disorder chara
13      Mutations in the human ALMS1 gene cause Alstrom syndrome (AS), a progressive disease characteriz
14 ion, such as Bardet-Biedl syndrome (BBS) and Alstrom syndrome, as well as in several cilia mutant mou
15 ical features in two siblings diagnosed with Alstrom syndrome associated with two novel changes in AL
16           We have studied an individual with Alstrom syndrome carrying a familial balanced reciprocal
17 apitulate the neurosensory deficits of human Alstrom Syndrome, cochleae displayed several cyto-archit
18 existing in the ultrarare monogenic disorder Alstrom syndrome consisting of severe insulin resistance
19 atients with ocular disorders and those with Alstrom syndrome for mutations in LBX2.
20  two nonsense mutations, that segregate with Alstrom syndrome in six unrelated families.
21 the coding region of LBX2 do not account for Alstrom syndrome in the six kindreds analyzed.
22 ese insights are of particular importance in Alstrom syndrome in which all of these conditions coexis
23                                              Alstrom syndrome is a homogeneous autosomal recessive di
24                                              Alstrom Syndrome is a life-threatening disease character
25                                              Alstrom syndrome is a rare autosomal recessive disorder
26 sophila homolog of the human ciliopathy gene Alstrom syndrome, is enriched on the mother centrosome i
27 didate region for various diseases including Alstrom syndrome, limb-girdle muscle dystrophy, and Miyo
28                                              Alstrom syndrome (OMIM #203800) is an autosomal recessiv
29                                              Alstrom syndrome (OMIM 203800) is an autosomal recessive
30                         The gene involved in Alstrom syndrome probably interacts with genetic modifie
31 sity ciliopathies, Bardet-Biedl Syndrome and Alstrom Syndrome, to the production and maintenance of p
32  presented with a mild clinical phenotype of Alstrom syndrome were found to have novel mutations in A
33 nce, glucose metabolism and dyslipidaemia in Alstrom syndrome will be discussed as well as genotypic