Schwabe GC - Search Results

1

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.

Niedermaier M, Schwabe GC, Fees S, Helmrich A, Brieske N, Seemann P, Hecht J, Seitz V, Stricker S, Leschik G, Schrock E, Selby PB, Mundlos S. Niedermaier M, et al. Among authors: schwabe gc. J Clin Invest. 2005 Apr;115(4):900-9. doi: 10.1172/JCI23675. J Clin Invest. 2005. PMID: 15841179 Free PMC article.

2

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.

Albrecht AN, Schwabe GC, Stricker S, Böddrich A, Wanker EE, Mundlos S. Albrecht AN, et al. Among authors: schwabe gc. Mech Dev. 2002 Mar;112(1-2):53-67. doi: 10.1016/s0925-4773(01)00639-6. Mech Dev. 2002. PMID: 11850178 Free article.

3

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

Schwabe GC, Türkmen S, Leschik G, Palanduz S, Stöver B, Goecke TO, Mundlos S. Schwabe GC, et al. Am J Med Genet A. 2004 Feb 1;124A(4):356-63. doi: 10.1002/ajmg.a.20349. Am J Med Genet A. 2004. PMID: 14735582

4

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.

Schwabe GC, Trepczik B, Süring K, Brieske N, Tucker AS, Sharpe PT, Minami Y, Mundlos S. Schwabe GC, et al. Dev Dyn. 2004 Feb;229(2):400-10. doi: 10.1002/dvdy.10466. Dev Dyn. 2004. PMID: 14745966 Free article.

5

Genetics of congenital hand anomalies.

Schwabe GC, Mundlos S. Schwabe GC, et al. Handchir Mikrochir Plast Chir. 2004 Apr-Jun;36(2-3):85-97. doi: 10.1055/s-2004-817884. Handchir Mikrochir Plast Chir. 2004. PMID: 15162306 Review.

6

Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.

Sammar M, Stricker S, Schwabe GC, Sieber C, Hartung A, Hanke M, Oishi I, Pohl J, Minami Y, Sebald W, Mundlos S, Knaus P. Sammar M, et al. Among authors: schwabe gc. Genes Cells. 2004 Dec;9(12):1227-38. doi: 10.1111/j.1365-2443.2004.00799.x. Genes Cells. 2004. PMID: 15569154 Free article.

7

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S. Schwabe GC, et al. Am J Hum Genet. 2000 Oct;67(4):822-31. doi: 10.1086/303084. Epub 2000 Sep 12. Am J Hum Genet. 2000. PMID: 10986040 Free PMC article.

8

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

Demirhan O, Türkmen S, Schwabe GC, Soyupak S, Akgül E, Tastemir D, Karahan D, Mundlos S, Lehmann K. Demirhan O, et al. Among authors: schwabe gc. J Med Genet. 2005 Apr;42(4):314-7. doi: 10.1136/jmg.2004.023564. J Med Genet. 2005. PMID: 15805157 Free PMC article.

9

Arteries define the position of the thyroid gland during its developmental relocalisation.

Alt B, Elsalini OA, Schrumpf P, Haufs N, Lawson ND, Schwabe GC, Mundlos S, Grüters A, Krude H, Rohr KB. Alt B, et al. Among authors: schwabe gc. Development. 2006 Oct;133(19):3797-804. doi: 10.1242/dev.02550. Development. 2006. PMID: 16968815 Free article.

10

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).

Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Kjaer KW, et al. Among authors: schwabe gc. J Med Genet. 2005 Apr;42(4):292-8. doi: 10.1136/jmg.2004.027821. J Med Genet. 2005. PMID: 15805154 Free PMC article.

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