LE WE PMID CA
Bardet Biedl syndrome323Bardet Biedl Syndrom

Acrorenal field (Development)

ADTB3A

Amyotrophic lateral sclerosis slow progressing ALS8

Amyotrophic lateral sclerosis

ARC syndrome

ARL6

Bardet Biedl syndrome

BBS2

BBS4

beta Actin

beta3 spectrin

Caudal regression syndrome

CEDNIK syndrome

Cell secretion (Intracellular transport)

Charcot Marie Tooth disease type 2a

Charcot Marie Tooth disease type 2b

Chediak Higashi syndrome

Choroideremia

Cilia

Cloaca (Exstrophy)

COG7

Congenital disorder of glycosylation type IIe

Cranio lenticulo sutural dysplasia

Deafness (Inherited)

Developmental malformations deafness dystonia OMIM_607371

DTNBP1

Dysferlin

Elajalde syndrome Griscelli syndrome II

Factor V (Coagulation)

Factor VIII (Coagulation)

Familial hemophagoctic lymphohistiocytosis

Fetal Warfarin Syndrome

Griscelli s syndrome III

Griscelli s syndrome2

Hand and Wrist (Malformation)

Hereditary spastic paraplegia SPG10

Hereditary spastic paraplegia SPG4

Hermansky Pudlak syndrome

HPS1

HPS3

HPS4

HPS5

HPS6

Hydrolethalus Syndrome

Hypergammaglobulinemia idiopathic

Hyperglobulinemic purpura

IgM Nephropathy

Ivemark s syndrome

Kidney (Agenesis)

Kidney (C3NEF)

Kidney (Medullary cystic disease)

Kidney (Medullary sponge kidney)

Kidney (Radiation nephritis)

Kidney (Tip lesion)

KIF1B

KIF5A

Limb girdle muscular dystrophy type 2B

LMAN1 ERGIC53

Lowe s syndrome

LYST CHS1

Martsolf syndrome

MCFD2

Miyoshi s myopathy

MLPH

Muckle Wells syndrome

Myosin Ia Myo1a

Myosin Va Myo5a

Myosin VI

Myosin VIIa

Myosin XVa Myo15a

Nerve (Anatomy)

Obesity (Involvement Kidney)

OCRL1

OMIM_300104

Pallister Hall Syndrome

PCD (Heavy chain disease)

PKHD1

Poland s anomaly

Polytopic acrorenal developmental field defect

Potter s sequence

RAB27A

RAB3GAP

RAB7

RABGDIA

Radius (Aplasia)

REP1

Robinson s defect

SEC23A

SNAP29

SPG20 Spartin

SPG4 Spastin

Spinal muscular atrophy late onset

Spinocerebellar ataxia5

STOML3

Syndactyly

Syntaxin11

Troyer syndrome SPG20

TRPV1

TTC8

UNC13D Munc13 4 HPLH3

Urinary blader (Megacystis)

Urinary tract (Obstructive uropathy)

Usher syndrome type Ib

VAPB

VPS33B

Warburg Micro syndrome

2004  
1
The oligogenic properties of Bardet-Biedl syndrome.
[14976158] Hum Mol Genet 13 Spec No 1(): R65-71 (2004)
2001  
2
Exploring the molecular basis of Bardet-Biedl syndrome.
[11673413] Hum Mol Genet 10(20): 2293-9 (2001)
2009  
3
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
[19252258] J Clin Invest 119(3): 428-37 (2009)
2005  
4
[Update on Bardet-Biedl syndrome].
[15767906] J Fr Ophtalmol 28(1): 106-12 (2005)
2011  
5
Inactivation of Bardet-Biedl syndrome genes causes kidney defects.
[21106857] Am J Physiol Renal Physiol 300(2): F574-80 (2011)
2007  
6
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.
[17959775] Proc Natl Acad Sci U S A 104(44): 17524-9 (2007)
2009  
7
Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature.
[19829857] Cases J 2(-): 6771 (2009)
2009  
8
Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.
[20027412] Arq Bras Oftalmol 72(5): 694-6 (2009)
2007  
9
Cargos and genes: insights into vesicular transport from inherited human disease.
[17526798] J Med Genet 44(9): 545-55 (2007)
2011  
10
Chiral separation by enantioselective liquid-liquid extraction.
[21107491] Org Biomol Chem 9(1): 36-51 (2011)

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