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1 2H (LGMD2H), sarcotubular myopathy (STM) and Bardet Biedl syndrome.
2 s and have identified BBS5, a novel gene for Bardet-Biedl syndrome.
3 ied BBS1, the gene most commonly involved in Bardet-Biedl syndrome.
4 s in the vicinity of a locus associated with Bardet-Biedl syndrome.
5 tein distribution and manifest clinically as Bardet-Biedl Syndrome.
6 icantly expand the phenotype associated with Bardet-Biedl syndrome.
7 nderlie an isolated retinal degeneration and Bardet-Biedl syndrome.
8 escribed genes involved in the human disease Bardet-Biedl syndrome.
9 w that loss of cilopathy-associated proteins Bardet-Biedl syndrome 4 (BBS4) or oral-facial-digital sy
10 e is accompanied by a misdistribution of the Bardet-Biedl syndrome 4 polypeptide and a decreased phot
13 they uncover a phenotype similar to that of Bardet-Biedl syndrome, a human disorder that maps to the
14 es associated with two obesity ciliopathies, Bardet-Biedl Syndrome and Alstrom Syndrome, to the produ
15 ted cohort of patients with renal disease in Bardet-Biedl syndrome and identifies risk factors to be
16 rlapping syndromes such as Joubert syndrome, Bardet-Biedl syndrome and Meckel-Gruber syndrome, all of
19 from studies of related syndromes, including Bardet-Biedl syndrome and nephronophthisis, for which al
21 ed in a number of genetic disorders, such as Bardet-Biedl Syndrome and Polycystic Kidney Disease.
22 ation of BBS1 and BBS4, two genes mutated in Bardet-Biedl syndrome and that encode proteins that loca
24 as Joubert syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome, and Orofaciodigital syndrome.
25 , including polycystic kidney disease (PKD), Bardet-Biedl syndrome, and primary ciliary dyskinesia.
26 opathies, including Joubert Syndrome (JBTS), Bardet-Biedl Syndrome, and some forms of retinitis pigme
27 AG8 are associated with nephronophthisis and Bardet-Biedl syndrome, as well as schizophrenia; however
29 most frequent diagnoses with cells included Bardet Biedl syndrome (BBS), Leber congenital amaurosis
30 some syndromes of cilia dysfunction, such as Bardet-Biedl syndrome (BBS) and Alstrom syndrome, as wel
32 cephalic mouse model of the human ciliopathy Bardet-Biedl Syndrome (BBS) and identify a role for neur
33 eins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localiz
34 genes that cause the cilia-related disorder Bardet-Biedl syndrome (BBS) encode proteins that form a
74 airment, hypertension, and diabetes found in Bardet-Biedl syndrome (BBS) make this disorder an import
75 EP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epis
79 erine 710 (S710) triggers the recruitment of Bardet-Biedl syndrome (BBS) proteins to the centrosome.
80 of cilia relies on the BBSome, a complex of Bardet-Biedl syndrome (BBS) proteins, and on the intrafl
81 have also been shown to cause some cases of Bardet-Biedl syndrome (BBS) which is characterized by ob
82 we investigated the contribution of NPHP1 in Bardet-Biedl syndrome (BBS), a ciliopathy of intermediat
83 hat mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with
84 iotropism and genetic heterogeneity found in Bardet-Biedl syndrome (BBS), a genetic disorder characte
85 um dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a genetic disorder whose sy
87 C1203, that contributes epistatic alleles to Bardet-Biedl syndrome (BBS), a pleiotropic, oligogenic d
88 S8, one of the genes involved in pleiotropic Bardet-Biedl syndrome (BBS), is sufficient to cause nons
89 me (JBTS), Meckel-Gruber syndrome (MKS), and Bardet-Biedl syndrome (BBS), which are collectively term
90 e proposed that the pleiotropic phenotype of Bardet-Biedl syndrome (BBS), which encompasses retinal d
98 , and two with the related complex disorder, Bardet-Biedl syndrome (BBS); Group 2 was composed of 15
102 aeli Bedouin family with autosomal recessive Bardet-Biedl syndrome (BBS; obesity, pigmentary retinopa
104 31.2, a region that overlaps the locus for a Bardet-Biedl syndrome (BBS5) linked to markers at 2q31 [
106 isease attending the United Kingdom national Bardet-Biedl syndrome clinics to further elucidate the p
107 transport (IFT) machinery and the associated Bardet-Biedl syndrome complex (BBSome) for dynamic deliv
108 lize them to TZ subdomains, showing that the Bardet-Biedl syndrome complex (BBSome) is more distal in
109 This trafficking is often mediated by the Bardet-Biedl Syndrome complex (BBSome), a protein comple
110 described herein, with molecularly confirmed Bardet-Biedl syndrome, developed early cone dysfunction,
111 te gene expression tables for the identified Bardet-Biedl syndrome disease gene (BBS5) in the BBS5 di
113 ypes are observed in ciliopathies, including Bardet-Biedl syndrome, Ellis-van Creveld syndrome, Weyer
115 and functional interactions between NPHP and Bardet-Biedl syndrome gene products, demonstrated for Gl
118 related human family member, Arl6, result in Bardet-Biedl syndrome in humans, which is characterized
124 rdle muscular dystrophy type 2H (LGMD2H) and Bardet-Biedl syndrome, is elevated during mouse skin car
126 ased on their motility in wild-type and bbs (Bardet-Biedl syndrome) mutants, IFT proteins were classi
128 signal and cause retinitis pigmentosa, while Bardet-Biedl syndrome, primary open-angle glaucoma, and
131 nce and severity of CKD in 350 patients with Bardet-Biedl syndrome-related renal disease attending th
136 heritance has been described for the related Bardet-Biedl syndrome, we evaluated whether mutations in
137 retinal degeneration, especially those with Bardet-Biedl syndrome, whom it may help not only with th
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