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Items: 1 to 20 of 87

1.

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group..

Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.

2.

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.

Am J Med Genet. 1998 Feb 3;75(4):389-94. Review.

PMID:
9482645
3.

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
4.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attié-Bitach T, Thauvin-Robinet C.

Eur J Med Genet. 2013 Jun;56(6):301-8. doi: 10.1016/j.ejmg.2013.03.004. Epub 2013 Mar 21.

PMID:
23523602
5.

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E.

Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4.

6.

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
7.

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
8.

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly.

Thauvin-Robinet C, Rousseau T, Durand C, Laurent N, Maingueneau C, Faivre L, Sagot P, Nivelon-Chevallier A.

Prenat Diagn. 2001 Jun;21(6):466-70.

PMID:
11438951
9.

[Familial case of oral-facial-digital syndrome type 1 (OFD 1)].

Miklaszewska M, Zachwieja K, Herman-Sucharska I, Drozdz D, Fijak-Moskal J, Gergont A, Kowalska-Duplaga K, Cieszkowska M, Pacia-Medrek B, Pietrzyk JA.

Przegl Lek. 2014;71(2):110-4. Polish.

PMID:
25016787
10.

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
11.

The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.

Hunkapiller J, Singla V, Seol A, Reiter JF.

Stem Cells Dev. 2011 May;20(5):831-41. doi: 10.1089/scd.2010.0362. Epub 2010 Nov 30.

12.

Variability of expression of the orofaciodigital syndrome type I in black females: six cases.

Salinas CF, Pai GS, Vera CL, Milutinovic J, Hagerty R, Cooper JD, Cagna DR.

Am J Med Genet. 1991 Mar 15;38(4):574-82.

PMID:
2063902
13.

Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.

Shimojima K, Shimada S, Sugawara M, Yoshikawa N, Niijima S, Urao M, Yamamoto T.

Congenit Anom (Kyoto). 2013 Dec;53(4):155-9. doi: 10.1111/j.1741-4520.2012.00384.x.

PMID:
24712474
14.

Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome.

Schock EN, Chang CF, Struve JN, Chang YT, Chang J, Delany ME, Brugmann SA.

Dis Model Mech. 2015 Aug 1;8(8):855-66. doi: 10.1242/dmm.020222. Epub 2015 Jun 4.

15.

Neuropathology of oral-facial-digital syndromes.

Towfighi J, Berlin CM Jr, Ladda RL, Frauenhoffer EE, Lehman RA.

Arch Pathol Lab Med. 1985 Jul;109(7):642-6.

PMID:
3839363
16.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T.

Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1.

PMID:
24178751
17.

American Medical Society for Sports Medicine position statement: concussion in sport.

Harmon KG, Drezner JA, Gammons M, Guskiewicz KM, Halstead M, Herring SA, Kutcher JS, Pana A, Putukian M, Roberts WO.

Br J Sports Med. 2013 Jan;47(1):15-26. doi: 10.1136/bjsports-2012-091941. Review. Erratum in: Br J Sports Med. 2013 Feb;47(3):184.

PMID:
23243113
18.

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.

19.

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
20.

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

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