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Items: 12

1.

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

Zaghloul NA, Liu Y, Gerdes JM, Gascue C, Oh EC, Leitch CC, Bromberg Y, Binkley J, Leibel RL, Sidow A, Badano JL, Katsanis N.

Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10602-7. doi: 10.1073/pnas.1000219107. Epub 2010 May 24.

2.

The oligogenic properties of Bardet-Biedl syndrome.

Katsanis N.

Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. Epub 2004 Feb 19. Review.

PMID:
14976158
3.

Bardet-Biedl syndrome: Is it only cilia dysfunction?

Novas R, Cardenas-Rodriguez M, IrigoĆ­n F, Badano JL.

FEBS Lett. 2015 Nov 14;589(22):3479-91. doi: 10.1016/j.febslet.2015.07.031. Epub 2015 Jul 29. Review.

4.

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.

Putoux A, Attie-Bitach T, Martinovic J, Gubler MC.

Pediatr Nephrol. 2012 Jan;27(1):7-15. doi: 10.1007/s00467-010-1751-3. Epub 2011 Jan 19. Review.

PMID:
21246219
5.
6.

Molecular basis of the obesity associated with Bardet-Biedl syndrome.

Guo DF, Rahmouni K.

Trends Endocrinol Metab. 2011 Jul;22(7):286-93. doi: 10.1016/j.tem.2011.02.009. Epub 2011 Apr 21. Review.

7.

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

Blacque OE, Leroux MR.

Cell Mol Life Sci. 2006 Sep;63(18):2145-61. Review.

PMID:
16909204
8.

Exploring the molecular basis of Bardet-Biedl syndrome.

Katsanis N, Lupski JR, Beales PL.

Hum Mol Genet. 2001 Oct 1;10(20):2293-9. Review.

PMID:
11673413
9.

Establishing a connection between cilia and Bardet-Biedl Syndrome.

Mykytyn K, Sheffield VC.

Trends Mol Med. 2004 Mar;10(3):106-9. Review.

PMID:
15106604
10.

[Current status and implication of research on Bardet-Biedl syndrome].

Shen T, Yan XM, Xiao CJ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):570-3. doi: 10.3760/cma.j.issn.1003-9406.2013.05.013. Review. Chinese.

PMID:
24078572
11.

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

Zaghloul NA, Katsanis N.

J Clin Invest. 2009 Mar;119(3):428-37. doi: 10.1172/JCI37041. Epub 2009 Mar 2. Review.

12.

Interpreting human genetic variation with in vivo zebrafish assays.

Davis EE, Frangakis S, Katsanis N.

Biochim Biophys Acta. 2014 Oct;1842(10):1960-1970. doi: 10.1016/j.bbadis.2014.05.024. Epub 2014 Jun 2. Review.

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