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Items: 1 to 20 of 31


Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects.

Jopling C, van Geemen D, den Hertog J.

PLoS Genet. 2007 Dec;3(12):e225.


Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J.

Hum Mutat. 2007 Aug;28(8):790-6.


Bardet-Biedl syndrome: beyond the cilium.

Tobin JL, Beales PL.

Pediatr Nephrol. 2007 Jul;22(7):926-36. Epub 2007 Mar 15. Review.


Fetal alcohol exposure impairs Hedgehog cholesterol modification and signaling.

Li YX, Yang HT, Zdanowicz M, Sicklick JK, Qi Y, Camp TJ, Diehl AM.

Lab Invest. 2007 Mar;87(3):231-40. Epub 2007 Jan 22.


Advances in ontogeny of the enteric nervous system.

Burns AJ, Thapar N.

Neurogastroenterol Motil. 2006 Oct;18(10):876-87. Review.


Discriminating power of localized three-dimensional facial morphology.

Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M.

Am J Hum Genet. 2005 Dec;77(6):999-1010. Epub 2005 Oct 26.


Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N.

Nature. 2006 Jan 19;439(7074):326-30. Epub 2005 Dec 4.


It's all in your head: new insights into craniofacial development and deformation.

Tapadia MD, Cordero DR, Helms JA.

J Anat. 2005 Nov;207(5):461-77. Review. No abstract available.


GTF2IRD1 in craniofacial development of humans and mice.

Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D.

Science. 2005 Nov 18;310(5751):1184-7. Epub 2005 Nov 3.


Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL.

Nat Genet. 2005 Oct;37(10):1135-40. Epub 2005 Sep 18. Erratum in: Nat Genet. 2005 Dec;37(12):1381.


Vertebrate Smoothened functions at the primary cilium.

Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF.

Nature. 2005 Oct 13;437(7061):1018-21. Epub 2005 Aug 31.


Cilia and Hedgehog responsiveness in the mouse.

Huangfu D, Anderson KV.

Proc Natl Acad Sci U S A. 2005 Aug 9;102(32):11325-30. Epub 2005 Aug 1.


Hedgehog signaling is required for cranial neural crest morphogenesis and chondrogenesis at the midline in the zebrafish skull.

Wada N, Javidan Y, Nelson S, Carney TJ, Kelsh RN, Schilling TF.

Development. 2005 Sep;132(17):3977-88. Epub 2005 Jul 27.


Essential role of non-canonical Wnt signalling in neural crest migration.

De Calisto J, Araya C, Marchant L, Riaz CF, Mayor R.

Development. 2005 Jun;132(11):2587-97. Epub 2005 Apr 27.


Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways.

Simons M, Gloy J, Ganner A, Bullerkotte A, Bashkurov M, Krönig C, Schermer B, Benzing T, Cabello OA, Jenny A, Mlodzik M, Polok B, Driever W, Obara T, Walz G.

Nat Genet. 2005 May;37(5):537-43. Epub 2005 Apr 24.


MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.

Kim JC, Ou YY, Badano JL, Esmail MA, Leitch CC, Fiedrich E, Beales PL, Archibald JM, Katsanis N, Rattner JB, Leroux MR.

J Cell Sci. 2005 Mar 1;118(Pt 5):1007-20.


Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS.

Am J Med Genet A. 2005 Feb 1;132A(4):352-60.


Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.

Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, Badano JL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RH, Baillie DL, Katsanis N, Quarmby LM, Wicks SR, Leroux MR.

Genes Dev. 2004 Jul 1;18(13):1630-42.


The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.

Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL.

Nat Genet. 2004 May;36(5):462-70. Epub 2004 Apr 25.


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