1 Bardet Biedl syndrome (BBS) is a multisystem genetically hetero
2 D2H), sarcotubular myopathy (STM) and
Bardet Biedl syndrome.
3 requent diagnoses with cells included
Bardet Biedl syndrome (BBS), Leber congenital amaurosis (LCA),
4 Bardet-
Biedl syndrome (BBS) and autosomal dominant polycystic k
5 Bardet-
Biedl syndrome (BBS) is a currently incurable ciliopathy
6 Bardet-
Biedl syndrome (BBS) is a defining ciliopathy, notable f
7 Bardet-
Biedl syndrome (BBS) is a genetic disorder affecting mul
8 Bardet-
Biedl syndrome (BBS) is a genetic disorder characterized
9 Bardet-
Biedl syndrome (BBS) is a genetic disorder that affects
10 Bardet-
Biedl syndrome (BBS) is a genetic disorder with the prim
11 Bardet-
Biedl syndrome (BBS) is a genetically heterogeneous auto
12 Bardet-
Biedl syndrome (BBS) is a genetically heterogeneous auto
13 Bardet-
Biedl syndrome (BBS) is a genetically heterogeneous diso
14 Bardet-
Biedl syndrome (BBS) is a genetically heterogeneous diso
15 Bardet-
Biedl syndrome (BBS) is a genetically heterogeneous diso
16 Bardet-
Biedl syndrome (BBS) is a genetically heterogeneous diso
17 Bardet-
Biedl syndrome (BBS) is a genetically heterogeneous huma
18 Bardet-
Biedl syndrome (BBS) is a genetically heterogeneous rece
19 Bardet-
Biedl syndrome (BBS) is a genetically heterogeneous, ple
20 Bardet-
Biedl syndrome (BBS) is a hereditary genetic disorder th
21 Bardet-
Biedl syndrome (BBS) is a heterogeneous autosomal recess
22 Bardet-
Biedl syndrome (BBS) is a heterogeneous disorder charact
23 Bardet-
Biedl syndrome (BBS) is a heterogeneous genetic disorder
24 Bardet-
Biedl Syndrome (BBS) is a heterogeneous, autosomal reces
25 Bardet-
Biedl syndrome (BBS) is a heterogeneous, pleiotropic hum
26 Bardet-
Biedl syndrome (BBS) is a human genetic disorder resulti
27 Bardet-
Biedl syndrome (BBS) is a human genetic disorder with a
28 Bardet-
Biedl syndrome (BBS) is a multisystemic disorder typifie
29 Bardet-
Biedl syndrome (BBS) is a pleiotropic autosomal recessiv
30 Bardet-
Biedl syndrome (BBS) is a pleiotropic ciliopathy caused
31 Bardet-
Biedl syndrome (BBS) is a pleiotropic genetic disorder w
32 Bardet-
Biedl syndrome (BBS) is a pleiotropic, genetically heter
33 Bardet-
Biedl syndrome (BBS) is a pleiotropic, heterogeneous hum
34 Bardet-
Biedl syndrome (BBS) is a rare autosomal recessive disor
35 Bardet-
Biedl syndrome (BBS) is a rare autosomal recessive disor
36 Bardet-
Biedl syndrome (BBS) is a rare developmental disorder wi
37 Bardet-
Biedl syndrome (BBS) is a syndromic form of retinal dege
38 Bardet-
Biedl syndrome (BBS) is an autosomal recessive ciliopath
39 Bardet-
Biedl syndrome (BBS) is an autosomal recessive disorder
40 Bardet-
Biedl syndrome (BBS) is an autosomal recessive disorder
41 Bardet-
Biedl Syndrome (BBS) is an autosomal recessive disorder
42 Bardet-
Biedl syndrome (BBS) is an autosomal recessive disorder
43 Bardet-
Biedl syndrome (BBS) is an autosomal recessive, genetica
44 Bardet-
Biedl syndrome (BBS) is an uncommon multisystemic disord
45 Bardet-
Biedl syndrome (BBS) is characterized by obesity, retino
46 Bardet-
Biedl syndrome (BBS) is genetically heterogeneous with 1
47 Bardet-
Biedl syndrome (BBS) is one of the ciliopathies associat
48 Bardet-
Biedl syndrome (BBS) patients have compromised cilia and
49 Bardet-
Biedl syndrome (BBS), a ciliopathy, is a rare genetic co
50 Bardet-
Biedl syndrome (BBS, MIM 209900) is a heterogeneous auto
51 Bardet-
Biedl syndrome (BBS, OMIM 209900) is a genetic disorder
52 Bardet-
Biedl syndrome (BBS: OMIM 209900) is a rare developmenta
53 Bardet-
Biedl syndrome (OMIM 600374) is characterized by poly/sy
54 Bardet-
Biedl syndrome is a genetically heterogeneous, autosomal
55 Bardet-
Biedl syndrome is a model ciliopathy.
56 Bardet-
Biedl syndrome is a rare autosomal recessive, multisyste
57 Bardet-
Biedl syndrome is one such ciliopathy, genetically heter
58 region that overlaps the locus for a
Bardet-
Biedl syndrome (BBS5) linked to markers at 2q31 [3].
59 q21, within the critical region for a
Bardet-
Biedl syndrome locus (BBS2).
60 We used a
Bardet-
Biedl syndrome type 17 (BBS17) mouse model, in which the
61 obesity syndromes such as Alstrom and
Bardet-
Biedl localize to this organelle.
62 S), Meckel-Gruber syndrome (MKS), and
Bardet-
Biedl syndrome (BBS), which are collectively termed "cil
63 rt syndrome, Senor-Loken syndrome and
Bardet-
Biedl syndrome (BBS).
64 iated with Meckel-Gruber syndrome and
Bardet-
Biedl syndrome (BBS).
65 ctional interactions between NPHP and
Bardet-
Biedl syndrome gene products, demonstrated for Glis2 and
66 H) or sarcotubular myopathy (STM) and
Bardet-
Biedl syndrome type 11(BBS11).
67 luding primary ciliary dyskinesia and
Bardet-
Biedl syndrome, also suffer from infertility because cil
68 associated with nephronophthisis and
Bardet-
Biedl syndrome, as well as schizophrenia; however, the f
69 scular dystrophy type 2H (LGMD2H) and
Bardet-
Biedl syndrome, is elevated during mouse skin carcinogen
70 an isolated retinal degeneration and
Bardet-
Biedl syndrome.
71 besity syndromes, such as Alstrom and
Bardet-
Biedl.
72 ndromes of cilia dysfunction, such as
Bardet-
Biedl syndrome (BBS) and Alstrom syndrome, as well as in
73 ontribute to ciliary diseases such as
Bardet-
Biedl syndrome (BBS).
74 number of genetic disorders, such as
Bardet-
Biedl Syndrome and Polycystic Kidney Disease.
75 stribution and manifest clinically as
Bardet-
Biedl Syndrome.
76 rt (IFT) machinery and the associated
Bardet-
Biedl syndrome complex (BBSome) for dynamic delivery of
77 their motility in wild-type and bbs (
Bardet-
Biedl syndrome) mutants, IFT proteins were classified in
78 and a defective recruitment of BBS4 (
Bardet-
Biedl syndrome 4) to cilia.
79 also known as NPHP6) either can cause
Bardet-
Biedl syndrome (BBS) or may have a potential epistatic e
80 contribute to ciliary function cause
Bardet-
Biedl syndrome (BBS).
81 Although the two ciliopathies
Bardet-
Biedl syndrome and nephronophthisis share multiple clini
82 ciated with two obesity ciliopathies,
Bardet-
Biedl Syndrome and Alstrom Syndrome, to the production a
83 c mouse model of the human ciliopathy
Bardet-
Biedl Syndrome (BBS) and identify a role for neural prog
84 function causes the severe ciliopathy
Bardet-
Biedl syndrome (BBS).
85 s from mouse models of the ciliopathy
Bardet-
Biedl syndrome (BBS).
86 ified in patients with the ciliopathy
Bardet-
Biedl syndrome disrupted this interaction.
87 One type of ciliopathy,
Bardet-
Biedl syndrome, is a rare disorder characterized by obes
88 One ciliopathy,
Bardet-
Biedl syndrome, presents with diverse clinical features,
89 ed herein, with molecularly confirmed
Bardet-
Biedl syndrome, developed early cone dysfunction, includ
90 This review considers
Bardet-
Biedl syndrome (BBS), a monogenic autosomal recessive no
91 d genes involved in the human disease
Bardet-
Biedl syndrome.
92 eneration, polycystic kidney disease,
Bardet-
Biedl syndrome, and neural tube defects.
93 srupted in the human ciliary disorder
Bardet-
Biedl syndrome (BBS) are required for the localization o
94 that cause the cilia-related disorder
Bardet-
Biedl syndrome (BBS) encode proteins that form a complex
95 th the heterogeneous genetic disorder
Bardet-
Biedl syndrome (BBS).
96 wo with the related complex disorder,
Bardet-
Biedl syndrome (BBS); Group 2 was composed of 15 non-IRD
97 ly different, multisystemic disorder,
Bardet-
Biedl syndrome type 11.
98 The BBSome, a complex of eight
Bardet-
Biedl syndrome (BBS) proteins involved in cilia function
99 gion for the fourth genetic locus for
Bardet-
Biedl syndrome (BBS4) in humans.
100 ave identified BBS5, a novel gene for
Bardet-
Biedl syndrome.
101 munohistochemistry using retinas from
Bardet-
Biedl Syndrome (BBS) mouse models and found that BBS mut
102 ctor-like 6, the product of the human
Bardet-
Biedl syndrome gene (BBS3).
103 expression tables for the identified
Bardet-
Biedl syndrome disease gene (BBS5) in the BBS5 disease r
104 We identify
Bardet-
Biedl syndrome proteins (BBSome) as bona fide constituen
105 , hypertension, and diabetes found in
Bardet-
Biedl syndrome (BBS) make this disorder an important mod
106 In vivo transport assays performed in
Bardet-
Biedl syndrome (BBS) protein and IFT motor mutants favor
107 stigated the contribution of NPHP1 in
Bardet-
Biedl syndrome (BBS), a ciliopathy of intermediate sever
108 e with mutations in genes involved in
Bardet-
Biedl syndrome (BBS), a disorder associated with ciliary
109 sm and genetic heterogeneity found in
Bardet-
Biedl syndrome (BBS), a genetic disorder characterized p
110 ent and homeostasis of many organs in
Bardet-
Biedl syndrome (BBS).
111 ort of patients with renal disease in
Bardet-
Biedl syndrome and identifies risk factors to be conside
112 f BBS1 and BBS4, two genes mutated in
Bardet-
Biedl syndrome and that encode proteins that localize ne
113 human family member, Arl6, result in
Bardet-
Biedl syndrome in humans, which is characterized by geni
114 ructural reinforcement, as well as in
Bardet-
Biedl syndrome-15, a ciliopathy.
115 Diminution in
Bardet-
Biedl syndrome-proteins content combined with our electr
116 1, the gene most commonly involved in
Bardet-
Biedl syndrome.
117 udies of related syndromes, including
Bardet-
Biedl syndrome and nephronophthisis, for which all of th
118 e observed in ciliopathies, including
Bardet-
Biedl syndrome, Ellis-van Creveld syndrome, Weyers acrof
119 s, including Joubert Syndrome (JBTS),
Bardet-
Biedl Syndrome, and some forms of retinitis pigmentosa (
120 attending the United Kingdom national
Bardet-
Biedl syndrome clinics to further elucidate the phenotyp
121 The BBSome is a complex of
Bardet-
Biedl Syndrome (BBS) proteins that shares common structu
122 10 (S710) triggers the recruitment of
Bardet-
Biedl syndrome (BBS) proteins to the centrosome.
123 ia relies on the BBSome, a complex of
Bardet-
Biedl syndrome (BBS) proteins, and on the intraflagellar
124 d GPCRs, and the BBSome, a complex of
Bardet-
Biedl syndrome (BBS) proteins, are required for the sign
125 lso been shown to cause some cases of
Bardet-
Biedl syndrome (BBS) which is characterized by obesity,
126 unction underlies the pathogenesis of
Bardet-
Biedl syndrome (BBS), a genetic disorder whose symptoms
127 sed that the pleiotropic phenotype of
Bardet-
Biedl syndrome (BBS), which encompasses retinal degenera
128 and three additional mouse models of
Bardet-
Biedl Syndrome (BBS).
129 suggestive of a clinical diagnosis of
Bardet-
Biedl Syndrome (BBS).
130 lusion body formation and blockage of
Bardet-
Biedl syndrome 4 (BBS4) entrance into cilia.
131 xamined the RPE in the mouse model of
Bardet-
Biedl Syndrome 4 (BBS4), a ciliopathy associated with re
132 he classical Mendelian inheritance of
Bardet-
Biedl syndrome and other ciliopathies.
133 entified genes including the locus of
Bardet-
Biedl syndrome type 1.
134 ncover a phenotype similar to that of
Bardet-
Biedl syndrome, a human disorder that maps to the same l
135 f genetic deficiencies in 3 models of
Bardet-
Biedl syndrome.
136 ice exhibit phenotypes reminiscent of
Bardet-
Biedl/Meckel-Gruber ciliopathy syndromes, including card
137 pathologies such as Alstrom (ALMS) or
Bardet-
Biedl (BBS) syndrome.
138 ding polycystic kidney disease (PKD),
Bardet-
Biedl syndrome, and primary ciliary dyskinesia.
139 of the genes involved in pleiotropic
Bardet-
Biedl syndrome (BBS), is sufficient to cause nonsyndromi
140 loss of cilopathy-associated proteins
Bardet-
Biedl syndrome 4 (BBS4) or oral-facial-digital syndrome
141 Seven patients with clinically proven
Bardet-
Biedl syndrome had undergone detailed ocular phenotyping
142 douin family with autosomal recessive
Bardet-
Biedl syndrome (BBS; obesity, pigmentary retinopathy, po
143 ce has been described for the related
Bardet-
Biedl syndrome, we evaluated whether mutations in more t
144 We propose that some
Bardet-
Biedl syndrome and MKS pleiotropy may be caused by mutat
145 nowledge, for type C Bernard-Soulier,
Bardet-
Biedl-5 and Gordon Holmes syndromes.
146 g syndromes such as Joubert syndrome,
Bardet-
Biedl syndrome and Meckel-Gruber syndrome, all of which
147 ert syndrome, Meckel-Gruber syndrome,
Bardet-
Biedl syndrome, and Orofaciodigital syndrome.
148 n cause rare ciliopathies such as the
Bardet-
Biedl and Joubert syndromes, but is also linked to Alzhe
149 ctions of the proteins encoded by the
Bardet-
Biedl syndrome (BBS) genes are unknown.
150 companied by a misdistribution of the
Bardet-
Biedl syndrome 4 polypeptide and a decreased photorecept
151 em to TZ subdomains, showing that the
Bardet-
Biedl syndrome complex (BBSome) is more distal in the TZ
152 trafficking is often mediated by the
Bardet-
Biedl Syndrome complex (BBSome), a protein complex for w
153 The
Bardet-
Biedl syndrome protein complex (BBSome) is an octameric
154 thermore, we noted a reduction in the
Bardet-
Biedl syndrome proteins, which are crucial for forming a
155 We show that the
Bardet-
Biedl syndrome-causing G141R mutation in BBS9 likely res
156 e show that seven TZ, nine IFT, three
Bardet-
Biedl syndrome (BBS), and one centrosomal protein, form
157 so linked mutations in human Fritz to
Bardet-
Biedl and Meckel-Gruber syndromes, a notable link given
158 that contributes epistatic alleles to
Bardet-
Biedl syndrome (BBS), a pleiotropic, oligogenic disorder
159 BBSome malfunction leads to
Bardet-
Biedl syndrome, a ciliopathy with severe consequences.
160 and cause retinitis pigmentosa, while
Bardet-
Biedl syndrome, primary open-angle glaucoma, and tumor c
161 Patients with
Bardet-
Biedl syndrome (BBS) experience severe retinal degenerat
162 ther ift80 interacts genetically with
Bardet-
Biedl syndrome (BBS) genes.
163 independent cohorts of patients with
Bardet-
Biedl syndrome (BBS) with known recessive biallelic path
164 eles) of the 14 genes associated with
Bardet-
Biedl syndrome (BBS).
165 Tubby mice and individuals with
Bardet-
Biedl syndrome have defects in ciliated neuron function
166 Patients with
Bardet-
Biedl syndrome usually develop early-onset retinitis pig
167 l degeneration, especially those with
Bardet-
Biedl syndrome, whom it may help not only with the visio
168 severity of CKD in 350 patients with
Bardet-
Biedl syndrome-related renal disease attending the Unite
169 e vicinity of a locus associated with
Bardet-
Biedl syndrome.
170 expand the phenotype associated with
Bardet-
Biedl syndrome.