323 related articles for article (PubMed ID: 36741589)
1. Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.
Melluso A; Secondulfo F; Capolongo G; Capasso G; Zacchia M
Ther Clin Risk Manag; 2023; 19():115-132. PubMed ID: 36741589
[TBL] [Abstract][Full Text] [Related]
2. Bardet-Biedl syndrome: a case series.
Elawad OAMA; Dafallah MA; Ahmed MMM; Albashir AAD; Abdalla SMA; Yousif HHM; Daw Elbait AAE; Mohammed ME; Ali HIH; Ahmed MMM; Mohammed NFN; Osman FHM; Mohammed MAY; Abu Shama EAE
J Med Case Rep; 2022 Apr; 16(1):169. PubMed ID: 35484558
[TBL] [Abstract][Full Text] [Related]
3. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.
Weihbrecht K; Goar WA; Pak T; Garrison JE; DeLuca AP; Stone EM; Scheetz TE; Sheffield VC
Med Res Arch; 2017 Sep; 5(9):. PubMed ID: 29457131
[TBL] [Abstract][Full Text] [Related]
4. Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Schaefer E; Zaloszyc A; Lauer J; Durand M; Stutzmann F; Perdomo-Trujillo Y; Redin C; Bennouna Greene V; Toutain A; Perrin L; Gérard M; Caillard S; Bei X; Lewis RA; Christmann D; Letsch J; Kribs M; Mutter C; Muller J; Stoetzel C; Fischbach M; Marion V; Katsanis N; Dollfus H
Mol Syndromol; 2011 Sep; 1(6):273-281. PubMed ID: 22190896
[TBL] [Abstract][Full Text] [Related]
5. Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future.
Chandra B; Tung ML; Hsu Y; Scheetz T; Sheffield VC
Prog Retin Eye Res; 2022 Jul; 89():101035. PubMed ID: 34929400
[TBL] [Abstract][Full Text] [Related]
6. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Khan AO; Decker E; Bachmann N; Bolz HJ; Bergmann C
Ophthalmic Genet; 2016 Sep; 37(3):290-3. PubMed ID: 26854863
[TBL] [Abstract][Full Text] [Related]
7. Bardet-Biedl syndrome: Is it only cilia dysfunction?
Novas R; Cardenas-Rodriguez M; Irigoín F; Badano JL
FEBS Lett; 2015 Nov; 589(22):3479-91. PubMed ID: 26231314
[TBL] [Abstract][Full Text] [Related]
8. Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic
Ren ZL; Zhang HB; Li L; Yang ZL; Jiang L
Zool Res; 2022 May; 43(3):442-456. PubMed ID: 35503560
[TBL] [Abstract][Full Text] [Related]
9. Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.
Szmigielska A; Krzemień G; Roszkowska-Blaim M; Obersztyn E
Dev Period Med; 2016; 20(2):105-9. PubMed ID: 27442694
[TBL] [Abstract][Full Text] [Related]
10. Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome.
Zacchia M; Capolongo G; Trepiccione F; Marion V
Kidney Blood Press Res; 2017; 42(5):784-793. PubMed ID: 29161709
[TBL] [Abstract][Full Text] [Related]
11. Renal features of Bardet Biedl syndrome: A single center experience.
Atmış B; Karabay-Bayazıt A; Melek E; Bişgin A; Anarat A
Turk J Pediatr; 2019; 61(2):186-192. PubMed ID: 31951329
[TBL] [Abstract][Full Text] [Related]
12. A case of Bardet-Biedl syndrome caused by a recurrent variant in
Focșa IO; Budișteanu M; Burloiu C; Khan S; Sadeghpour A; Bohîlțea LC; Davis EE; Bălgrădean M
Biomed Rep; 2021 Dec; 15(6):103. PubMed ID: 34760276
[TBL] [Abstract][Full Text] [Related]
13. Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS).
Solarat C; Valverde D
Methods Cell Biol; 2023; 176():125-137. PubMed ID: 37164534
[TBL] [Abstract][Full Text] [Related]
14. Bardet-Biedl syndrome: A rare genetic disease.
Castro-Sánchez S; Álvarez-Satta M; Valverde D
J Pediatr Genet; 2013 Jun; 2(2):77-83. PubMed ID: 27625843
[TBL] [Abstract][Full Text] [Related]
15. Bardet-Biedl syndrome.
Forsythe E; Beales PL
Eur J Hum Genet; 2013 Jan; 21(1):8-13. PubMed ID: 22713813
[TBL] [Abstract][Full Text] [Related]
16. Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa.
Peterson SM; McGill TJ; Puthussery T; Stoddard J; Renner L; Lewis AD; Colgin LMA; Gayet J; Wang X; Prongay K; Cullin C; Dozier BL; Ferguson B; Neuringer M
Exp Eye Res; 2019 Dec; 189():107825. PubMed ID: 31589838
[TBL] [Abstract][Full Text] [Related]
17. Genetics of human Bardet-Biedl syndrome, an updates.
Khan SA; Muhammad N; Khan MA; Kamal A; Rehman ZU; Khan S
Clin Genet; 2016 Jul; 90(1):3-15. PubMed ID: 26762677
[TBL] [Abstract][Full Text] [Related]
18. Update on the genetics of bardet-biedl syndrome.
M'hamdi O; Ouertani I; Chaabouni-Bouhamed H
Mol Syndromol; 2014 Feb; 5(2):51-6. PubMed ID: 24715851
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of Bardet Biedl Syndrome: A case report.
Arora E; Fuks A; Meyer J; Chervenak J
Radiol Case Rep; 2023 Jan; 18(1):326-330. PubMed ID: 36406960
[TBL] [Abstract][Full Text] [Related]
20. Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.
Schaefer E; Lauer J; Durand M; Pelletier V; Obringer C; Claussmann A; Braun JJ; Redin C; Mathis C; Muller J; Schmidt-Mutter C; Flori E; Marion V; Stoetzel C; Dollfus H
Clin Genet; 2014 May; 85(5):476-81. PubMed ID: 23692385
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]