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Results: 1 to 20 of 162

Similar articles for PubMed (Select 11950863)

1.

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.

2.

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
3.
4.

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
5.

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
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.

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.

8.

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.

Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L.

Am J Med Genet A. 2009 Aug;149A(8):1846-9. doi: 10.1002/ajmg.a.32981. No abstract available.

PMID:
19610098
9.

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
10.

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
11.

Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.

Orstavik KH, Tangsrud SE, Nordshus T, Finnanger AM, Hellum C, Gjessing E.

J Med Genet. 1992 Nov;29(11):827-30.

12.

Renal cystic disease associated with orofaciodigital syndrome.

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

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

PMID:
1539404
13.

Oral-facial-digital syndrome type 1 coexisting with polycystic kidney disease.

Scolari F, Valzorio B, Carli O, Vizzardi V, Grazioli L, Bondioni MP, Maiorca R.

Contrib Nephrol. 1997;122:58-60. No abstract available.

PMID:
9399040
14.

[Orofaciodigital syndrome type I in a mother and daughter].

Guerrero Vázquez J, Cazenave Bernal A, de Paz Aparicio P, Luengo Casasola JL, Garcés Ramos A, López Vázquez JL, Hoyos Madrid JJ.

An Esp Pediatr. 1988 Jan;28(1):59-62. Review. Spanish.

PMID:
3279888
15.

Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

Donnai D, Kerzin-Storrar L, Harris R.

J Med Genet. 1987 Feb;24(2):84-7.

16.

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
17.

Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease.

Scolari F, Valzorio B, Carli O, Vizzardi V, Costantino E, Grazioli L, Bondioni MP, Savoldi S, Maiorca R.

Nephrol Dial Transplant. 1997 Jun;12(6):1247-50. No abstract available.

18.

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
19.

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.

Gedeon AK, Oley C, Nelson J, Turner G, Mulley JC.

Am J Med Genet. 1999 Feb 12;82(4):352-4. No abstract available.

PMID:
10051172
20.

Mental retardation and dermatoglyphics in a family with the oral-facial-digital syndrome.

Doege TC, Campbell MM, Bryant JS, Thuline HC.

Am J Dis Child. 1968 Dec;116(6):615-22. No abstract available.

PMID:
4301481
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