PubMed (OMIM) for id: 337527

Year	Number of Results
1983	1
1985	1
1995	2
1997	1
1998	2
1999	1
2001	2
2002	1
2004	1
2005	1
2006	2
2023	0

1

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. Thauvin-Robinet C, et al. J Med Genet. 2006 Jan;43(1):54-61. doi: 10.1136/jmg.2004.027672. J Med Genet. 2006. PMID: 16397067 Free PMC article.

2

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dollé P, Franco B. Ferrante MI, et al. Nat Genet. 2006 Jan;38(1):112-7. doi: 10.1038/ng1684. Epub 2005 Nov 27. Nat Genet. 2006. PMID: 16311594

3

Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

Morisawa T, Yagi M, Surono A, Yokoyama N, Ohmori M, Terashi H, Matsuo M. Morisawa T, et al. Hum Genet. 2004 Jul;115(2):97-103. doi: 10.1007/s00439-004-1139-1. Epub 2004 Jun 2. Hum Genet. 2004. PMID: 15221448

4

Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

Rakkolainen A, Ala-Mello S, Kristo P, Orpana A, Järvelä I. Rakkolainen A, et al. J Med Genet. 2002 Apr;39(4):292-6. doi: 10.1136/jmg.39.4.292. J Med Genet. 2002. PMID: 11950863 Free PMC article. No abstract available.

5

A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.

Emes RD, Ponting CP. Emes RD, et al. Hum Mol Genet. 2001 Nov 15;10(24):2813-20. doi: 10.1093/hmg/10.24.2813. Hum Mol Genet. 2001. PMID: 11734546

6

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. Ferrante MI, et al. Am J Hum Genet. 2001 Mar;68(3):569-76. doi: 10.1086/318802. Epub 2001 Feb 13. Am J Hum Genet. 2001. PMID: 11179005 Free PMC article.

7

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.

Brzustowicz LM, Farrell S, Khan MB, Weksberg R. Brzustowicz LM, et al. Am J Hum Genet. 1999 Sep;65(3):779-83. doi: 10.1086/302527. Am J Hum Genet. 1999. PMID: 10441586 Free PMC article.

8

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.

de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S. de Conciliis L, et al. Genomics. 1998 Jul 15;51(2):243-50. doi: 10.1006/geno.1998.5348. Genomics. 1998. PMID: 9722947

9

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, Jouan H, Milon J, Fryns JP, Verloes A. Odent S, et al. Am J Med Genet. 1998 Feb 3;75(4):389-94. Am J Med Genet. 1998. PMID: 9482645 Review.

10

Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease.

Scolari F, Valzorio B, Carli O, Vizzardi V, Costantino E, Grazioli L, Bondioni MP, Savoldi S, Maiorca R. Scolari F, et al. Nephrol Dial Transplant. 1997 Jun;12(6):1247-50. doi: 10.1093/ndt/12.6.1247. Nephrol Dial Transplant. 1997. PMID: 9198060 No abstract available.

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