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Results: 1 to 20 of 103

Similar articles for PubMed (Select 22088931)

1.

Proximal symphalangism and premature ovarian failure.

Kadi N, Tahiri L, Maziane M, Mernissi FZ, Harzy T.

Joint Bone Spine. 2012 Jan;79(1):83-4. doi: 10.1016/j.jbspin.2011.05.029. Epub 2011 Nov 15.

PMID:
22088931
2.
3.

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
4.

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
5.

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
6.

Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome.

van den Ende JJ, Borra V, Van Hul W.

Clin Dysmorphol. 2013 Jan;22(1):1-6. doi: 10.1097/MCD.0b013e3283590986.

PMID:
22968293
7.

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.

8.

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.

9.

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
10.

The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.

van den Ende JJ, Mattelaer P, Declau F, Vanhoenacker F, Claes J, Van Hul E, Baten E.

Clin Dysmorphol. 2005 Apr;14(2):73-80.

PMID:
15770128
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.

Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.

Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T.

Fertil Steril. 2004 Apr;81(4):1137-9.

PMID:
15066478
13.

Familial symphalangism syndrome transmitted through five generations.

Moumoumi H, Mayelo V, Anthonioz P.

Genet Couns. 1991;2(3):139-46.

PMID:
1801849
14.

[A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias].

Schumacher KA, Wolf M, Friedrich JM.

Rontgenblatter. 1988 May;41(5):211-4. German.

PMID:
3393818
15.

[Innovative genetic, clinical and endocrinologic aspects in young females affected by premature ovarian insufficiency].

Ciotta L, Pagano I, Stracquadanio M, Pafumi C, Teodoro MC, Giuffrida E.

Minerva Ginecol. 2010 Dec;62(6):501-7. Italian.

PMID:
21079571
16.

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

Krakow D, Reinker K, Powell B, Cantor R, Priore MA, Garber A, Lachman RS, Rimoin DL, Cohn DH.

Am J Hum Genet. 1998 Jul;63(1):120-4.

17.

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
18.

Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure.

Prakash GJ, Ravi Kanth VV, Shelling AN, Rozati R, Sujatha M.

Fertil Steril. 2010 Jun;94(1):90-8. doi: 10.1016/j.fertnstert.2009.02.014. Epub 2009 Mar 26.

PMID:
19324345
19.

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
20.

[Gouty arthritis of hands and feet combined with giant calcified tophus: a report of 1 case].

Lü DL, Lu XH.

Zhongguo Gu Shang. 2009 Dec;22(12):955. Chinese. No abstract available.

PMID:
20112592
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