Mundlos S - Search Results

1

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.

Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S. Tuysuz B, et al. Among authors: mundlos s. Clin Genet. 2009 Apr;75(4):375-83. doi: 10.1111/j.1399-0004.2009.01167.x. Clin Genet. 2009. PMID: 19320654

2

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

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. 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

4

Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement.

Rajab A, Kunze J, Mundlos S. Rajab A, et al. Among authors: mundlos s. Am J Med Genet A. 2004 May 1;126A(4):413-9. doi: 10.1002/ajmg.a.20606. Am J Med Genet A. 2004. PMID: 15098240

5

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.

6

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: mundlos s. J Med Genet. 2005 Apr;42(4):314-7. doi: 10.1136/jmg.2004.023564. J Med Genet. 2005. PMID: 15805157 Free PMC article.

7

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

Tufan F, Cefle K, Türkmen S, Türkmen A, Zorba U, Dursun M, Oztürk S, Palandüz S, Ecder T, Mundlos S, Horn D. Tufan F, et al. Among authors: mundlos s. Am J Med Genet A. 2005 Jul 15;136(2):185-9. doi: 10.1002/ajmg.a.30785. Am J Med Genet A. 2005. PMID: 15952209

8

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.

Türkmen S, Demirhan O, Hoffmann K, Diers A, Zimmer C, Sperling K, Mundlos S. Türkmen S, et al. Among authors: mundlos s. J Med Genet. 2006 May;43(5):461-4. doi: 10.1136/jmg.2005.040030. Epub 2005 Dec 21. J Med Genet. 2006. PMID: 16371500 Free PMC article.

9

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.

Türkmen S, Hoffmann K, Demirhan O, Aruoba D, Humphrey N, Mundlos S. Türkmen S, et al. Among authors: mundlos s. Eur J Hum Genet. 2008 Sep;16(9):1070-4. doi: 10.1038/ejhg.2008.73. Epub 2008 Mar 26. Eur J Hum Genet. 2008. PMID: 18364738

10

Genes and quadrupedal locomotion in humans.

Humphrey N, Mundlos S, Türkmen S. Humphrey N, et al. Among authors: mundlos s. Proc Natl Acad Sci U S A. 2008 May 27;105(21):E26. doi: 10.1073/pnas.0802839105. Epub 2008 May 15. Proc Natl Acad Sci U S A. 2008. PMID: 18483196 Free PMC article. No abstract available.

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