Mundlos S - Search Results

1

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Ott CE, et al. Among authors: mundlos s. Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298. Hum Mutat. 2010. PMID: 20648631

2

Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.

Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel B. Winterpacht A, et al. Among authors: mundlos s. Hum Mutat. 1994;4(4):257-62. doi: 10.1002/humu.1380040405. Hum Mutat. 1994. PMID: 7866404

3

Cleidocranial dysplasia: clinical and molecular genetics.

Mundlos S. Mundlos S. J Med Genet. 1999 Mar;36(3):177-82. J Med Genet. 1999. PMID: 10204840 Free PMC article. Review.

4

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.

5

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

6

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

Otto F, Kanegane H, Mundlos S. Otto F, et al. Among authors: mundlos s. Hum Mutat. 2002 Mar;19(3):209-16. doi: 10.1002/humu.10043. Hum Mutat. 2002. PMID: 11857736 Review.

7

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy.

Sander T, Toliat MR, Heils A, Leschik G, Becker C, Rüschendorf F, Rohde K, Mundlos S, Nürnberg P. Sander T, et al. Among authors: mundlos s. Epilepsy Res. 2002 Oct;51(3):249-55. doi: 10.1016/s0920-1211(02)00152-3. Epilepsy Res. 2002. PMID: 12399075

8

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

9

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.

Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S. Thiele H, et al. Among authors: mundlos s. Proc Natl Acad Sci U S A. 2004 Jul 6;101(27):10155-60. doi: 10.1073/pnas.0400334101. Epub 2004 Jun 23. Proc Natl Acad Sci U S A. 2004. PMID: 15215498 Free PMC article.

10

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: mundlos s. J Clin Invest. 2005 Apr;115(4):900-9. doi: 10.1172/JCI23675. J Clin Invest. 2005. PMID: 15841179 Free PMC article.

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