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Items: 14

1.

A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.

Takano K, Ogasawara N, Matsunaga T, Mutai H, Sakurai A, Ishikawa A, Himi T.

Hum Genome Var. 2016 Aug 4;3:16023. doi: 10.1038/hgv.2016.23. eCollection 2016.

2.

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A.

Eur J Hum Genet. 2013 Oct;21(10):1085-92. doi: 10.1038/ejhg.2012.306. Epub 2013 Jan 30.

3.

A medical student with symphalangism, would it affect her future career?

Saliem AM, Nimir AR, Abdul Kadir FA.

BMJ Case Rep. 2012 Oct 19;2012. pii: bcr2012006668. doi: 10.1136/bcr-2012-006668.

4.

Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.

Srivastava K, Hu P, Solomon BD, Ming JE, Roessler E, Muenke M.

Mol Genet Metab. 2012 Jun;106(2):241-3. doi: 10.1016/j.ymgme.2012.03.008. Epub 2012 Mar 21.

5.

Classification and surgical treatment of symphalangism in interphalangeal joints of the hand.

Baek GH, Lee HJ.

Clin Orthop Surg. 2012 Mar;4(1):58-65. doi: 10.4055/cios.2012.4.1.58. Epub 2012 Feb 20.

6.

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.

7.

Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.

Murphy AJ, Li Y, Pietsch JB, Chiang C, Lovvorn HN 3rd.

Pediatr Surg Int. 2012 Apr;28(4):335-40. doi: 10.1007/s00383-011-3022-1. Epub 2011 Nov 15.

8.

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Byrnes AM, Racacho L, Grimsey A, Hudgins L, Kwan AC, Sangalli M, Kidd A, Yaron Y, Lau YL, Nikkel SM, Bulman DE.

Eur J Hum Genet. 2009 Sep;17(9):1112-20. doi: 10.1038/ejhg.2009.18. Epub 2009 Mar 11.

9.

Role of hindbrain in inner ear morphogenesis: analysis of Noggin knockout mice.

Bok J, Brunet LJ, Howard O, Burton Q, Wu DK.

Dev Biol. 2007 Nov 1;311(1):69-78. Epub 2007 Aug 16.

10.

TGF-beta signaling is essential for joint morphogenesis.

Spagnoli A, O'Rear L, Chandler RL, Granero-Molto F, Mortlock DP, Gorska AE, Weis JA, Longobardi L, Chytil A, Shimer K, Moses HL.

J Cell Biol. 2007 Jun 18;177(6):1105-17.

11.

GDF5 is a second locus for multiple-synostosis syndrome.

Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D.

Am J Hum Genet. 2006 Apr;78(4):708-12. Epub 2006 Feb 24.

12.

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S.

J Clin Invest. 2005 Sep;115(9):2373-81. Epub 2005 Aug 25.

13.

The BMP signaling and in vivo bone formation.

Cao X, Chen D.

Gene. 2005 Aug 29;357(1):1-8. Review.

14.

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.

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