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1 2H (LGMD2H), sarcotubular myopathy (STM) and Bardet Biedl syndrome.
2 escribed genes involved in the human disease Bardet-Biedl syndrome.
3  them of genetic deficiencies in 3 models of Bardet-Biedl syndrome.
4 s and have identified BBS5, a novel gene for Bardet-Biedl syndrome.
5 ied BBS1, the gene most commonly involved in Bardet-Biedl syndrome.
6 s in the vicinity of a locus associated with Bardet-Biedl syndrome.
7 tein distribution and manifest clinically as Bardet-Biedl Syndrome.
8 icantly expand the phenotype associated with Bardet-Biedl syndrome.
9 nderlie an isolated retinal degeneration and Bardet-Biedl syndrome.
10  and structural reinforcement, as well as in Bardet-Biedl syndrome-15, a ciliopathy.
11 ent inclusion body formation and blockage of Bardet-Biedl syndrome 4 (BBS4) entrance into cilia.
12 w that loss of cilopathy-associated proteins Bardet-Biedl syndrome 4 (BBS4) or oral-facial-digital sy
13  then examined the RPE in the mouse model of Bardet-Biedl Syndrome 4 (BBS4), a ciliopathy associated
14 e is accompanied by a misdistribution of the Bardet-Biedl syndrome 4 polypeptide and a decreased phot
15 y cilia and a defective recruitment of BBS4 (Bardet-Biedl syndrome 4) to cilia.
16                  BBSome malfunction leads to Bardet-Biedl syndrome, a ciliopathy with severe conseque
17  they uncover a phenotype similar to that of Bardet-Biedl syndrome, a human disorder that maps to the
18 es, including primary ciliary dyskinesia and Bardet-Biedl syndrome, also suffer from infertility beca
19 es associated with two obesity ciliopathies, Bardet-Biedl Syndrome and Alstrom Syndrome, to the produ
20 ted cohort of patients with renal disease in Bardet-Biedl syndrome and identifies risk factors to be
21 rlapping syndromes such as Joubert syndrome, Bardet-Biedl syndrome and Meckel-Gruber syndrome, all of
22                         We propose that some Bardet-Biedl syndrome and MKS pleiotropy may be caused b
23                Although the two ciliopathies Bardet-Biedl syndrome and nephronophthisis share multipl
24 from studies of related syndromes, including Bardet-Biedl syndrome and nephronophthisis, for which al
25 rt of the classical Mendelian inheritance of Bardet-Biedl syndrome and other ciliopathies.
26 ed in a number of genetic disorders, such as Bardet-Biedl Syndrome and Polycystic Kidney Disease.
27 ation of BBS1 and BBS4, two genes mutated in Bardet-Biedl syndrome and that encode proteins that loca
28 nal degeneration, polycystic kidney disease, Bardet-Biedl syndrome, and neural tube defects.
29 as Joubert syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome, and Orofaciodigital syndrome.
30 , including polycystic kidney disease (PKD), Bardet-Biedl syndrome, and primary ciliary dyskinesia.
31 opathies, including Joubert Syndrome (JBTS), Bardet-Biedl Syndrome, and some forms of retinitis pigme
32 AG8 are associated with nephronophthisis and Bardet-Biedl syndrome, as well as schizophrenia; however
33                                              Bardet Biedl syndrome (BBS) is a multisystem genetically
34  most frequent diagnoses with cells included Bardet Biedl syndrome (BBS), Leber congenital amaurosis
35 some syndromes of cilia dysfunction, such as Bardet-Biedl syndrome (BBS) and Alstrom syndrome, as wel
36                                              Bardet-Biedl syndrome (BBS) and autosomal dominant polyc
37 cephalic mouse model of the human ciliopathy Bardet-Biedl Syndrome (BBS) and identify a role for neur
38 eins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localiz
39  genes that cause the cilia-related disorder Bardet-Biedl syndrome (BBS) encode proteins that form a
40                                Patients with Bardet-Biedl syndrome (BBS) experience severe retinal de
41 The functions of the proteins encoded by the Bardet-Biedl syndrome (BBS) genes are unknown.
42 ine whether ift80 interacts genetically with Bardet-Biedl syndrome (BBS) genes.
43                                              Bardet-Biedl syndrome (BBS) is a currently incurable cil
44                                              Bardet-Biedl syndrome (BBS) is a defining ciliopathy, no
45                                              Bardet-Biedl syndrome (BBS) is a genetic disorder affect
46                                              Bardet-Biedl syndrome (BBS) is a genetic disorder charac
47                                              Bardet-Biedl syndrome (BBS) is a genetic disorder that a
48                                              Bardet-Biedl syndrome (BBS) is a genetic disorder with t
49                                              Bardet-Biedl syndrome (BBS) is a genetically heterogeneo
50                                              Bardet-Biedl syndrome (BBS) is a genetically heterogeneo
51                                              Bardet-Biedl syndrome (BBS) is a genetically heterogeneo
52                                              Bardet-Biedl syndrome (BBS) is a genetically heterogeneo
53                                              Bardet-Biedl syndrome (BBS) is a genetically heterogeneo
54                                              Bardet-Biedl syndrome (BBS) is a genetically heterogeneo
55                                              Bardet-Biedl syndrome (BBS) is a genetically heterogeneo
56                                              Bardet-Biedl syndrome (BBS) is a genetically heterogeneo
57                                              Bardet-Biedl syndrome (BBS) is a genetically heterogeneo
58                                              Bardet-Biedl syndrome (BBS) is a hereditary genetic diso
59                                              Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal
60                                              Bardet-Biedl syndrome (BBS) is a heterogeneous disorder
61                                              Bardet-Biedl syndrome (BBS) is a heterogeneous genetic d
62                                              Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosoma
63                                              Bardet-Biedl syndrome (BBS) is a heterogeneous, pleiotro
64                                              Bardet-Biedl syndrome (BBS) is a human genetic disorder
65                                              Bardet-Biedl syndrome (BBS) is a human genetic disorder
66                                              Bardet-Biedl syndrome (BBS) is a multisystemic disorder
67                                              Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal r
68                                              Bardet-Biedl syndrome (BBS) is a pleiotropic ciliopathy
69                                              Bardet-Biedl syndrome (BBS) is a pleiotropic genetic dis
70                                              Bardet-Biedl syndrome (BBS) is a pleiotropic, geneticall
71                                              Bardet-Biedl syndrome (BBS) is a pleiotropic, heterogene
72                                              Bardet-Biedl syndrome (BBS) is a rare autosomal recessiv
73                                              Bardet-Biedl syndrome (BBS) is a rare autosomal recessiv
74                                              Bardet-Biedl syndrome (BBS) is a rare developmental diso
75                                              Bardet-Biedl syndrome (BBS) is a syndromic form of retin
76                                              Bardet-Biedl syndrome (BBS) is an autosomal recessive ci
77                                              Bardet-Biedl syndrome (BBS) is an autosomal recessive di
78                                              Bardet-Biedl syndrome (BBS) is an autosomal recessive di
79                                              Bardet-Biedl Syndrome (BBS) is an autosomal recessive di
80                                              Bardet-Biedl syndrome (BBS) is an autosomal recessive di
81                                              Bardet-Biedl syndrome (BBS) is an autosomal recessive, g
82                                              Bardet-Biedl syndrome (BBS) is an uncommon multisystemic
83                                              Bardet-Biedl syndrome (BBS) is characterized by obesity,
84                                              Bardet-Biedl syndrome (BBS) is genetically heterogeneous
85                                              Bardet-Biedl syndrome (BBS) is one of the ciliopathies a
86 airment, hypertension, and diabetes found in Bardet-Biedl syndrome (BBS) make this disorder an import
87 rmed immunohistochemistry using retinas from Bardet-Biedl Syndrome (BBS) mouse models and found that
88 EP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epis
89                                              Bardet-Biedl syndrome (BBS) patients have compromised ci
90        In vivo transport assays performed in Bardet-Biedl syndrome (BBS) protein and IFT motor mutant
91               The BBSome, a complex of eight Bardet-Biedl syndrome (BBS) proteins involved in cilia f
92                   The BBSome is a complex of Bardet-Biedl Syndrome (BBS) proteins that shares common
93 erine 710 (S710) triggers the recruitment of Bardet-Biedl syndrome (BBS) proteins to the centrosome.
94  of cilia relies on the BBSome, a complex of Bardet-Biedl syndrome (BBS) proteins, and on the intrafl
95 ctivated GPCRs, and the BBSome, a complex of Bardet-Biedl syndrome (BBS) proteins, are required for t
96  have also been shown to cause some cases of Bardet-Biedl syndrome (BBS) which is characterized by ob
97  of two independent cohorts of patients with Bardet-Biedl syndrome (BBS) with known recessive biallel
98 we investigated the contribution of NPHP1 in Bardet-Biedl syndrome (BBS), a ciliopathy of intermediat
99                                              Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare gen
100 hat mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with
101 iotropism and genetic heterogeneity found in Bardet-Biedl syndrome (BBS), a genetic disorder characte
102 um dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a genetic disorder whose sy
103                        This review considers Bardet-Biedl syndrome (BBS), a monogenic autosomal reces
104 C1203, that contributes epistatic alleles to Bardet-Biedl syndrome (BBS), a pleiotropic, oligogenic d
105 ging, we show that seven TZ, nine IFT, three Bardet-Biedl syndrome (BBS), and one centrosomal protein
106 S8, one of the genes involved in pleiotropic Bardet-Biedl syndrome (BBS), is sufficient to cause nons
107 me (JBTS), Meckel-Gruber syndrome (MKS), and Bardet-Biedl syndrome (BBS), which are collectively term
108 e proposed that the pleiotropic phenotype of Bardet-Biedl syndrome (BBS), which encompasses retinal d
109 Its malfunction causes the severe ciliopathy Bardet-Biedl syndrome (BBS).
110 ction contribute to ciliary diseases such as Bardet-Biedl syndrome (BBS).
111 atures suggestive of a clinical diagnosis of Bardet-Biedl Syndrome (BBS).
112 ated with the heterogeneous genetic disorder Bardet-Biedl syndrome (BBS).
113  neurons from mouse models of the ciliopathy Bardet-Biedl syndrome (BBS).
114 , Joubert syndrome, Senor-Loken syndrome and Bardet-Biedl syndrome (BBS).
115 125 alleles) of the 14 genes associated with Bardet-Biedl syndrome (BBS).
116 evelopment and homeostasis of many organs in Bardet-Biedl syndrome (BBS).
117 es that contribute to ciliary function cause Bardet-Biedl syndrome (BBS).
118 o associated with Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS).
119 s4(-/-) and three additional mouse models of Bardet-Biedl Syndrome (BBS).
120 , and two with the related complex disorder, Bardet-Biedl syndrome (BBS); Group 2 was composed of 15
121                                              Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneo
122                                              Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic di
123                                              Bardet-Biedl syndrome (BBS: OMIM 209900) is a rare devel
124 aeli Bedouin family with autosomal recessive Bardet-Biedl syndrome (BBS; obesity, pigmentary retinopa
125 ical region for the fourth genetic locus for Bardet-Biedl syndrome (BBS4) in humans.
126 31.2, a region that overlaps the locus for a Bardet-Biedl syndrome (BBS5) linked to markers at 2q31 [
127                             We show that the Bardet-Biedl syndrome-causing G141R mutation in BBS9 lik
128 isease attending the United Kingdom national Bardet-Biedl syndrome clinics to further elucidate the p
129 transport (IFT) machinery and the associated Bardet-Biedl syndrome complex (BBSome) for dynamic deliv
130 lize them to TZ subdomains, showing that the Bardet-Biedl syndrome complex (BBSome) is more distal in
131    This trafficking is often mediated by the Bardet-Biedl Syndrome complex (BBSome), a protein comple
132 described herein, with molecularly confirmed Bardet-Biedl syndrome, developed early cone dysfunction,
133 te gene expression tables for the identified Bardet-Biedl syndrome disease gene (BBS5) in the BBS5 di
134 s identified in patients with the ciliopathy Bardet-Biedl syndrome disrupted this interaction.
135 ypes are observed in ciliopathies, including Bardet-Biedl syndrome, Ellis-van Creveld syndrome, Weyer
136 tion factor-like 6, the product of the human Bardet-Biedl syndrome gene (BBS3).
137 and functional interactions between NPHP and Bardet-Biedl syndrome gene products, demonstrated for Gl
138        Seven patients with clinically proven Bardet-Biedl syndrome had undergone detailed ocular phen
139              Tubby mice and individuals with Bardet-Biedl syndrome have defects in ciliated neuron fu
140 related human family member, Arl6, result in Bardet-Biedl syndrome in humans, which is characterized
141                                              Bardet-Biedl syndrome is a genetically heterogeneous, au
142                                              Bardet-Biedl syndrome is a model ciliopathy.
143                                              Bardet-Biedl syndrome is a rare autosomal recessive, mul
144                                              Bardet-Biedl syndrome is one such ciliopathy, geneticall
145                      One type of ciliopathy, Bardet-Biedl syndrome, is a rare disorder characterized
146 rdle muscular dystrophy type 2H (LGMD2H) and Bardet-Biedl syndrome, is elevated during mouse skin car
147  16q13-q21, within the critical region for a Bardet-Biedl syndrome locus (BBS2).
148 ased on their motility in wild-type and bbs (Bardet-Biedl syndrome) mutants, IFT proteins were classi
149                                              Bardet-Biedl syndrome (OMIM 600374) is characterized by
150                              One ciliopathy, Bardet-Biedl syndrome, presents with diverse clinical fe
151 signal and cause retinitis pigmentosa, while Bardet-Biedl syndrome, primary open-angle glaucoma, and
152                                          The Bardet-Biedl syndrome protein complex (BBSome) is an oct
153                                  We identify Bardet-Biedl syndrome proteins (BBSome) as bona fide con
154     Furthermore, we noted a reduction in the Bardet-Biedl syndrome proteins, which are crucial for fo
155                                Diminution in Bardet-Biedl syndrome-proteins content combined with our
156 nce and severity of CKD in 350 patients with Bardet-Biedl syndrome-related renal disease attending th
157 eral identified genes including the locus of Bardet-Biedl syndrome type 1.
158  (LGMD2H) or sarcotubular myopathy (STM) and Bardet-Biedl syndrome type 11(BBS11).
159 ompletely different, multisystemic disorder, Bardet-Biedl syndrome type 11.
160                                    We used a Bardet-Biedl syndrome type 17 (BBS17) mouse model, in wh
161                                Patients with Bardet-Biedl syndrome usually develop early-onset retini
162 heritance has been described for the related Bardet-Biedl syndrome, we evaluated whether mutations in
163  retinal degeneration, especially those with Bardet-Biedl syndrome, whom it may help not only with th

 
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