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Results: 1 to 20 of 108

Similar articles for PubMed (Select 22288654)

1.

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.

Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N.

Clin Genet. 2012 Dec;82(6):514-20. doi: 10.1111/j.1399-0004.2011.01831.x. Epub 2012 Jan 30.

2.

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM.

Am J Hum Genet. 2002 Sep;71(3):618-24. Epub 2002 Jun 27.

3.

Teunissen-Cremers syndrome: a clinical, surgical, and genetic report.

Weekamp HH, Kremer H, Hoefsloot LH, Kuijpers-Jagtman AM, Cruysberg JR, Cremers CW.

Otol Neurotol. 2005 Jan;26(1):38-51.

PMID:
15699718
4.

Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.

Emery SB, Meyer A, Miller L, Lesperance MM.

Otol Neurotol. 2009 Dec;30(8):1204-8. doi: 10.1097/MAO.0b013e31819e6398.

PMID:
19471170
5.

Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome.

Declau F, Van den Ende J, Baten E, Mattelaer P.

Otol Neurotol. 2005 Sep;26(5):934-40.

PMID:
16151340
6.

P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.

Hirshoren N, Gross M, Banin E, Sosna J, Bargal R, Raas-Rothschild A.

Eur J Med Genet. 2008 Jul-Aug;51(4):351-7. doi: 10.1016/j.ejmg.2008.02.008. Epub 2008 Mar 20.

PMID:
18440889
7.

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

Takahashi T, Takahashi I, Komatsu M, Sawaishi Y, Higashi K, Nishimura G, Saito H, Takada G.

Clin Genet. 2001 Dec;60(6):447-51.

PMID:
11846737
8.

Characterization of a stapes ankylosis family with a NOG mutation.

Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM.

Otol Neurotol. 2003 Mar;24(2):210-5.

PMID:
12621334
9.

A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss.

Masuda S, Namba K, Mutai H, Usui S, Miyanaga Y, Kaneko H, Matsunaga T.

Biochem Biophys Res Commun. 2014 May 9;447(3):496-502. doi: 10.1016/j.bbrc.2014.04.015. Epub 2014 Apr 13.

PMID:
24735539
10.

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.

Thomeer HG, Admiraal RJ, Hoefsloot L, Kunst HP, Cremers CW.

Otol Neurotol. 2011 Jun;32(4):632-8. doi: 10.1097/MAO.0b013e318211fada.

PMID:
21358557
11.

Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.

Milunsky J, Suntra C, MacDonald CB.

Am J Med Genet. 1999 Feb 19;82(5):404-8.

PMID:
10069712
12.

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

Ganaha A, Kaname T, Akazawa Y, Higa T, Shinjou A, Naritomi K, Suzuki M.

J Hum Genet. 2015 Jan;60(1):27-34. doi: 10.1038/jhg.2014.97. Epub 2014 Nov 13.

PMID:
25391606
13.

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.

Ishino T, Takeno S, Hirakawa K.

Eur J Med Genet. 2015 Jul 23. pii: S1769-7212(15)30003-3. doi: 10.1016/j.ejmg.2015.06.005. [Epub ahead of print]

PMID:
26211601
14.
15.

The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.

Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M.

Clin Dysmorphol. 1997 Jul;6(3):195-203.

PMID:
9220188
16.

Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.

Liu F, Huang Y, Liu L, Liang B, Qu Z, Huang G, Li C, Tian R, Jiang Z, Liu F, Yu X, Huang Y, Liu J, Tang Z.

Clin Chim Acta. 2014 Feb 15;429:129-33. doi: 10.1016/j.cca.2013.12.004. Epub 2013 Dec 8.

PMID:
24326127
17.

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.

Wang X, Xiao F, Yang Q, Liang B, Tang Z, Jiang L, Zhu Q, Chang W, Jiang J, Jiang C, Ren X, Liu JY, Wang QK, Liu M.

Am J Med Genet A. 2006 Sep 1;140A(17):1846-53.

PMID:
16892395
18.

An autosomal dominant inherited syndrome with congenital stapes ankylosis.

Teunissen B, Cremers WR.

Laryngoscope. 1990 Apr;100(4):380-4.

PMID:
2319886
19.

Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.

Iliadou V, Van Den Bogaert K, Eleftheriades N, Aperis G, Vanderstraeten K, Fransen E, Thys M, Grigoriadou M, Pampanos A, Economides J, Iliades T, Van Camp G, Petersen MB.

Int J Pediatr Otorhinolaryngol. 2006 Apr;70(4):631-7. Epub 2005 Sep 15.

PMID:
16168495
20.

Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome.

Athanasakis E, Biarnés X, Bonati MT, Gasparini P, Faletra F.

Mol Syndromol. 2012 Jun;3(1):21-24. Epub 2012 Apr 11.

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