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Items: 12

1.

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group.

Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.

2.

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ.

Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.

3.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ.

Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22.

4.

Mouse models of ciliopathies: the state of the art.

Norris DP, Grimes DT.

Dis Model Mech. 2012 May;5(3):299-312. doi: 10.1242/dmm.009340. Review.

5.

Regional selection acting on the OFD1 gene family.

Chang TC, Klabnik JL, Liu WS.

PLoS One. 2011;6(10):e26195. doi: 10.1371/journal.pone.0026195. Epub 2011 Oct 14.

6.

DNA methylation profiles of human active and inactive X chromosomes.

Sharp AJ, Stathaki E, Migliavacca E, Brahmachary M, Montgomery SB, Dupre Y, Antonarakis SE.

Genome Res. 2011 Oct;21(10):1592-600. doi: 10.1101/gr.112680.110. Epub 2011 Aug 23.

7.

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

Lopes CA, Prosser SL, Romio L, Hirst RA, O'Callaghan C, Woolf AS, Fry AM.

J Cell Sci. 2011 Feb 15;124(Pt 4):600-12. doi: 10.1242/jcs.077156. Epub 2011 Jan 25.

8.

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.

Giorgio G, Alfieri M, Prattichizzo C, Zullo A, Cairo S, Franco B.

Mol Biol Cell. 2007 Nov;18(11):4397-404. Epub 2007 Aug 29.

9.

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L.

J Med Genet. 2006 Jan;43(1):54-61.

10.

Identification of the gene for oral-facial-digital type I syndrome.

Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B.

Am J Hum Genet. 2001 Mar;68(3):569-76. Epub 2001 Feb 13.

11.

A first-generation X-inactivation profile of the human X chromosome.

Carrel L, Cottle AA, Goglin KC, Willard HF.

Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14440-4.

12.

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis.

Barbieri AM, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, Consalez GG, Borsani G, Beckmann JS, Barsacchi G, Ballabio A, Banfi S.

Proc Natl Acad Sci U S A. 1999 Sep 14;96(19):10729-34.

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