Mundlos S - Search Results

1

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. Among authors: mundlos s. 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.

2

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F. Quack I, et al. Among authors: mundlos s. Am J Hum Genet. 1999 Nov;65(5):1268-78. doi: 10.1086/302622. Am J Hum Genet. 1999. PMID: 10521292 Free PMC article.

3

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

Nürnberg P, Thiele H, Chandler D, Höhne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S. Nürnberg P, et al. Among authors: mundlos s. Nat Genet. 2001 May;28(1):37-41. doi: 10.1038/ng0501-37. Nat Genet. 2001. PMID: 11326272

4

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: mundlos s. Mech Dev. 2002 Mar;112(1-2):53-67. doi: 10.1016/s0925-4773(01)00639-6. Mech Dev. 2002. PMID: 11850178 Free article.

5

The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.

Oishi I, Suzuki H, Onishi N, Takada R, Kani S, Ohkawara B, Koshida I, Suzuki K, Yamada G, Schwabe GC, Mundlos S, Shibuya H, Takada S, Minami Y. Oishi I, et al. Among authors: mundlos s. Genes Cells. 2003 Jul;8(7):645-54. doi: 10.1046/j.1365-2443.2003.00662.x. Genes Cells. 2003. PMID: 12839624 Free article.

6

Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.

Schweiger S, Chaoui R, Tennstedt C, Lehmann K, Mundlos S, Tinschert S. Schweiger S, et al. Among authors: mundlos s. Am J Med Genet A. 2003 Aug 1;120A(4):547-52. doi: 10.1002/ajmg.a.20062. Am J Med Genet A. 2003. PMID: 12884437 Review.

7

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S. Lehmann K, et al. Among authors: mundlos s. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. doi: 10.1073/pnas.2133476100. Epub 2003 Oct 1. Proc Natl Acad Sci U S A. 2003. PMID: 14523231 Free PMC article.

8

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Among authors: mundlos s. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271

9

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. Among authors: mundlos s. 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

10

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. Among authors: mundlos s. Dev Dyn. 2004 Feb;229(2):400-10. doi: 10.1002/dvdy.10466. Dev Dyn. 2004. PMID: 14745966 Free article.

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