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7. Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85. Gedeon AK; Oley C; Nelson J; Turner G; Mulley JC Am J Med Genet; 1999 Feb; 82(4):352-4. PubMed ID: 10051172 [No Abstract] [Full Text] [Related]
8. Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis. Orstavik KH; Tangsrud SE; Nordshus T; Finnanger AM; Hellum C; Gjessing E J Med Genet; 1992 Nov; 29(11):827-30. PubMed ID: 1453437 [TBL] [Abstract][Full Text] [Related]
9. OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. Romio L; Wright V; Price K; Winyard PJ; Donnai D; Porteous ME; Franco B; Giorgio G; Malcolm S; Woolf AS; Feather SA J Am Soc Nephrol; 2003 Mar; 14(3):680-9. PubMed ID: 12595504 [TBL] [Abstract][Full Text] [Related]
10. Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. Nowaczyk MJ; Zeesman S; Whelan DT; Wright V; Feather SA Am J Med Genet A; 2003 Dec; 123A(2):179-82. PubMed ID: 14598343 [TBL] [Abstract][Full Text] [Related]
11. 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 Hum Genet; 2004 Jul; 115(2):97-103. PubMed ID: 15221448 [TBL] [Abstract][Full Text] [Related]
12. Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. Donnai D; Kerzin-Storrar L; Harris R J Med Genet; 1987 Feb; 24(2):84-7. PubMed ID: 3560172 [TBL] [Abstract][Full Text] [Related]
13. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Coene KL; Roepman R; Doherty D; Afroze B; Kroes HY; Letteboer SJ; Ngu LH; Budny B; van Wijk E; Gorden NT; Azhimi M; Thauvin-Robinet C; Veltman JA; Boink M; Kleefstra T; Cremers FP; van Bokhoven H; de Brouwer AP Am J Hum Genet; 2009 Oct; 85(4):465-81. PubMed ID: 19800048 [TBL] [Abstract][Full Text] [Related]
14. A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. Diz P; Alvarez-Iglesias V; Feijoo JF; Limeres J; Seoane J; Tomás I; Carracedo A Oral Dis; 2011 Sep; 17(6):610-4. PubMed ID: 21729220 [TBL] [Abstract][Full Text] [Related]
15. Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region. Toutain A; Ronce N; Dessay B; Robb L; Francannet C; Le Merrer M; Briard ML; Kaplan J; Moraine C Hum Genet; 1997 Feb; 99(2):256-61. PubMed ID: 9048931 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 23033313 [TBL] [Abstract][Full Text] [Related]
18. Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum. Bouman A; Alders M; Oostra RJ; van Leeuwen E; Thuijs N; van der Kevie-Kersemaekers AM; van Maarle M Am J Med Genet A; 2017 May; 173(5):1383-1389. PubMed ID: 28371265 [TBL] [Abstract][Full Text] [Related]
19. Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. Bruyere H; Lewis S; Wood S; MacLeod PJ; Langlois S Clin Genet; 1999 Mar; 55(3):173-81. PubMed ID: 10334471 [TBL] [Abstract][Full Text] [Related]
20. 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 J Med Genet; 2002 Apr; 39(4):292-6. PubMed ID: 11950863 [No Abstract] [Full Text] [Related] [Next] [New Search]