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Results: 1 to 20 of 34

1.

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.

PMID:
23033313
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
22619378
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.

Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N.

Clin Genet. 2013 Feb;83(2):135-44. doi: 10.1111/j.1399-0004.2012.01885.x. Epub 2012 May 1.

PMID:
22548404
[PubMed - indexed for MEDLINE]
4.

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

Field M, Scheffer IE, Gill D, Wilson M, Christie L, Shaw M, Gardner A, Glubb G, Hobson L, Corbett M, Friend K, Willis-Owen S, Gecz J.

Eur J Hum Genet. 2012 Jul;20(7):806-9. doi: 10.1038/ejhg.2012.9. Epub 2012 Feb 22.

PMID:
22353940
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.

Juric-Sekhar G, Adkins J, Doherty D, Hevner RF.

Acta Neuropathol. 2012 May;123(5):695-709. doi: 10.1007/s00401-012-0951-2. Epub 2012 Feb 14.

PMID:
22331178
[PubMed - indexed for MEDLINE]
6.

Ofd1, a human disease gene, regulates the length and distal structure of centrioles.

Singla V, Romaguera-Ros M, Garcia-Verdugo JM, Reiter JF.

Dev Cell. 2010 Mar 16;18(3):410-24. doi: 10.1016/j.devcel.2009.12.022.

PMID:
20230748
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

The molecular basis of oral-facial-digital syndrome, type 1.

Macca M, Franco B.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224. Review.

PMID:
19876934
[PubMed - indexed for MEDLINE]
8.

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.

Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C.

Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8.

PMID:
19817772
[PubMed - indexed for MEDLINE]
9.

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. doi: 10.1016/j.ajhg.2009.09.002.

PMID:
19800048
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.

Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frébourg T, Faivre L.

Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888.

PMID:
19023858
[PubMed - indexed for MEDLINE]
11.

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.

Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.

PMID:
18546297
[PubMed - indexed for MEDLINE]
12.

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

Morleo M, Franco B.

J Med Genet. 2008 Jul;45(7):401-8. doi: 10.1136/jmg.2008.058305. Epub 2008 May 7. Review.

PMID:
18463129
[PubMed - indexed for MEDLINE]
13.

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH.

Hum Genet. 2006 Sep;120(2):171-8. Epub 2006 Jun 17.

PMID:
16783569
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
16397067
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

Nat Genet. 2006 Jan;38(1):112-7. Epub 2005 Nov 27.

PMID:
16311594
[PubMed - indexed for MEDLINE]
16.

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. Epub 2004 Jun 2.

PMID:
15221448
[PubMed - indexed for MEDLINE]
17.

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 1;123A(2):179-82.

PMID:
14598343
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
12595504
[PubMed - indexed for MEDLINE]
Free Article
19.

Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.

Stoll C, Sauvage P.

Ann Genet. 2002 Apr-Jun;45(2):59-62.

PMID:
12119212
[PubMed - indexed for MEDLINE]
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. No abstract available.

PMID:
11950863
[PubMed - indexed for MEDLINE]
Free PMC Article

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