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