Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 110

1.

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
2.

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
3.

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.

4.

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
5.

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
6.

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 Sep;58(9):427-32. doi: 10.1016/j.ejmg.2015.06.005. Epub 2015 Jul 26.

PMID:
26211601
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.

Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans.

Hwang CH, Wu DK.

Hum Mol Genet. 2008 Mar 15;17(6):844-53. Epub 2007 Dec 20.

PMID:
18096605
9.

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.

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.

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
12.

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.

Mangino M, Flex E, Digilio MC, Giannotti A, Dallapiccola B.

Hum Mutat. 2002 Mar;19(3):308.

PMID:
11857750
13.

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML.

Nat Genet. 1999 Mar;21(3):302-4.

PMID:
10080184
14.
15.

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.

16.

A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family.

Pang X, Wang Z, Chai Y, Chen H, Li L, Sun L, Jia H, Wu H, Yang T.

Ann Otol Rhinol Laryngol. 2015 Sep;124(9):745-51. doi: 10.1177/0003489415582257. Epub 2015 Apr 17.

PMID:
25888563
17.

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.

Dixon ME, Armstrong P, Stevens DB, Bamshad M.

Genet Med. 2001 Sep-Oct;3(5):349-53.

PMID:
11545688
18.

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
19.

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.

Marcelino J, Sciortino CM, Romero MF, Ulatowski LM, Ballock RT, Economides AN, Eimon PM, Harland RM, Warman ML.

Proc Natl Acad Sci U S A. 2001 Sep 25;98(20):11353-8. Epub 2001 Sep 18.

20.

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

Schwaerzer GK, Hiepen C, Schrewe H, Nickel J, Ploeger F, Sebald W, Mueller T, Knaus P.

J Bone Miner Res. 2012 Feb;27(2):429-42. doi: 10.1002/jbmr.532.

Supplemental Content

Support Center