OFD1

• Orofaciodigital syndrome 1
• Simpson–Golabi–Behmel syndrome

{{Reflist}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1 GeneReviews/NCBI/NIH/UW entry on Oral-Facial-Digital Syndrome Type I]

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• {{Cite journal |vauthors=Alitalo T, Francis F, Kere J, etal |title=A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes |journal=Genomics |volume=25 |issue= 3 |pages= 691–700 |year= 1995 |pmid= 7759104 |doi=10.1016/0888-7543(95)80012-B }}
• {{Cite journal | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
• {{Cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 }}
• {{Cite journal | vauthors=Brzustowicz LM, Farrell S, Khan MB, Weksberg R |title=Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome |journal=Am. J. Hum. Genet. |volume=65 |issue= 3 |pages= 779–83 |year= 1999 |pmid= 10441586 |doi=10.1086/302527 | pmc=1377986 }}
• {{Cite journal |vauthors=Ferrante MI, Giorgio G, Feather SA, etal |title=Identification of the gene for oral-facial-digital type I syndrome |journal=Am. J. Hum. Genet. |volume=68 |issue= 3 |pages= 569–76 |year= 2001 |pmid= 11179005 |doi=10.1086/318802 | pmc=1274470 }}
• {{Cite journal | vauthors=Emes RD, Ponting CP |title=A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration |journal=Hum. Mol. Genet. |volume=10 |issue= 24 |pages= 2813–20 |year= 2002 |pmid= 11734546 |doi=10.1093/hmg/10.24.2813 |doi-access=free }}
• {{Cite journal |vauthors=Rakkolainen A, Ala-Mello S, Kristo P, etal |title=Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1 |journal=J. Med. Genet. |volume=39 |issue= 4 |pages= 292–6 |year= 2002 |pmid= 11950863 |doi=10.1136/jmg.39.4.292 | pmc=1735103 }}
• {{Cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
• {{Cite journal |vauthors=Romio L, Wright V, Price K, etal |title=OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells |journal=J. Am. Soc. Nephrol. |volume=14 |issue= 3 |pages= 680–9 |year= 2003 |pmid= 12595504 |doi=10.1097/01.ASN.0000054497.48394.D2 |doi-access=free }}
• {{Cite journal |vauthors=Ferrante MI, Barra A, Truong JP, etal |title=Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant |journal=Genomics |volume=81 |issue= 6 |pages= 560–9 |year= 2004 |pmid= 12782125 |doi=10.1016/S0888-7543(03)00091-0 }}
• {{Cite journal |vauthors=Andersen JS, Wilkinson CJ, Mayor T, etal |title=Proteomic characterization of the human centrosome by protein correlation profiling |journal=Nature |volume=426 |issue= 6966 |pages= 570–4 |year= 2003 |pmid= 14654843 |doi= 10.1038/nature02166 |bibcode=2003Natur.426..570A |s2cid=4427303 }}
• {{Cite journal |vauthors=Romio L, Fry AM, Winyard PJ, etal |title=OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis |journal=J. Am. Soc. Nephrol. |volume=15 |issue= 10 |pages= 2556–68 |year= 2005 |pmid= 15466260 |doi= 10.1097/01.ASN.0000140220.46477.5C |doi-access= free }}
• {{Cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
• {{Cite journal |vauthors=Thauvin-Robinet C, Cossée M, Cormier-Daire V, etal |title=Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study |journal=J. Med. Genet. |volume=43 |issue= 1 |pages= 54–61 |year= 2006 |pmid= 16397067 |doi= 10.1136/jmg.2004.027672 | pmc=2564504 }}
• {{Cite journal |vauthors=Budny B, Chen W, Omran H, etal |title=A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome |journal=Hum. Genet. |volume=120 |issue= 2 |pages= 171–8 |year= 2007 |pmid= 16783569 |doi= 10.1007/s00439-006-0210-5 |s2cid=20471001 }}

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{{Ciliary proteins}}

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