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Results: 1 to 20 of 140

1.

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
2.

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]
3.

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
4.

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]
5.

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]
6.

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]
7.

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. doi: 10.1111/j.1601-0825.2011.01823.x. Epub 2011 Jul 6.

PMID:
21729220
[PubMed - indexed for MEDLINE]
8.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T.

Clin Genet. 2013 Jul;84(1):86-90. doi: 10.1111/cge.12013. Epub 2012 Oct 4. No abstract available.

PMID:
23036093
[PubMed - indexed for MEDLINE]
9.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
10.

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
11.

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM.

Hum Mol Genet. 1997 Jul;6(7):1163-7.

PMID:
9215688
[PubMed - indexed for MEDLINE]
Free Article
12.

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]
13.

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
14.

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

Strobl-Wildemann G, Kalscheuer VM, Hu H, Wrogemann K, Ropers HH, Tzschach A.

Am J Med Genet A. 2011 Dec;155A(12):3067-70. doi: 10.1002/ajmg.a.34291. Epub 2011 Oct 14.

PMID:
22002931
[PubMed - indexed for MEDLINE]
15.

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]
16.

Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K, Kumaramanickavel G.

Invest Ophthalmol Vis Sci. 2005 Jan;46(1):17-23.

PMID:
15623749
[PubMed - indexed for MEDLINE]
Free Article
17.

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.

Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.

PMID:
12657579
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

PMID:
11179005
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

[Oral-facial-digital syndrome type I. A case report].

Leonardi R, Gallone M, Sorge G, Greco F.

Minerva Stomatol. 2004 Apr;53(4):185-9. Italian.

PMID:
15107776
[PubMed - indexed for MEDLINE]
20.

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Delphin N, Hanein S, Taie LF, Zanlonghi X, Bonneau D, Moisan JP, Boyle C, Nitschke P, Pruvost S, Bonnefont JP, Munnich A, Roche O, Kaplan J, Rozet JM.

Eur J Hum Genet. 2012 Mar;20(3):352-6. doi: 10.1038/ejhg.2011.217. Epub 2011 Nov 30.

PMID:
22126752
[PubMed - indexed for MEDLINE]
Free PMC Article

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