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Items: 1 to 20 of 97

1.

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
2.

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.

3.

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
4.

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
5.

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. doi: 10.1002/ajmg.a.38179. Epub 2017 Apr 3.

6.

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.

7.
8.

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
9.

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
10.

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
11.

Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.

Harrod MJ, Stokes J, Peede LF, Goldstein JL.

Clin Genet. 1976 Feb;9(2):183-6.

PMID:
1248177
12.

Fetal polycystic kidney disease in oro-facio-digital syndrome type I.

Nishimura G, Kuwashima S, Kohno T, Teramoto C, Watanabe H, Kubota T.

Pediatr Radiol. 1999 Jul;29(7):506-8.

PMID:
10398784
13.

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
14.

Renal cystic disease associated with orofaciodigital syndrome.

Curry NS, Milutinovic J, Grossnickle M, Munden M.

Urol Radiol. 1992;13(3):153-7.

PMID:
1539404
15.

Oral-facial-digital syndrome type I in a newborn male.

Gillerot Y, Heimann M, Fourneau C, Verellen-Dumoulin C, Van Maldergem L.

Am J Med Genet. 1993 May 15;46(3):335-8.

PMID:
8488880
16.

Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations.

Annerén G, Arvidson B, Gustavson KH, Jorulf H, Carlsson G.

Clin Genet. 1984 Sep;26(3):178-86.

PMID:
6478638
17.

Orofacial digital syndrome type 1: an underlying cause of chronic renal failure.

Yavuz YC, Ganidagli SE, Yilmaz T, Altunoren O, Deniz MS, Dogan E.

Ren Fail. 2014 Jul;36(6):946-7. doi: 10.3109/0886022X.2014.902249. Epub 2014 Apr 9.

PMID:
24713104
18.

Cystic kidneys in a patient with oral-facial-digital syndrome type I.

Stapleton FB, Bernstein J, Koh G, Roy S 3rd, Wilroy RS.

Am J Kidney Dis. 1982 Mar;1(5):288-93.

PMID:
7072712
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
20.

Oral-facial-digital syndrome type II variant associated with congenital tongue lipoma.

Ghossaini SN, Hadi U, Tawil A.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002 Sep;94(3):324-7.

PMID:
12324787

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