Mundlos S - Search Results

1

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.

Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. Innis JW, et al. Among authors: mundlos s. Hum Mol Genet. 2004 Nov 15;13(22):2841-51. doi: 10.1093/hmg/ddh306. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385446

2

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.

3

An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.

Lehmann K, Mundlos S, Meinecke P. Lehmann K, et al. Among authors: mundlos s. Eur J Pediatr. 2005 Aug;164(8):530-1. doi: 10.1007/s00431-005-1680-5. Epub 2005 May 12. Eur J Pediatr. 2005. PMID: 15889277 No abstract available.

4

The other trinucleotide repeat: polyalanine expansion disorders.

Albrecht A, Mundlos S. Albrecht A, et al. Among authors: mundlos s. Curr Opin Genet Dev. 2005 Jun;15(3):285-93. doi: 10.1016/j.gde.2005.04.003. Curr Opin Genet Dev. 2005. PMID: 15917204 Review.

5

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

Lehmann K, Seemann P, Boergermann J, Morin G, Reif S, Knaus P, Mundlos S. Lehmann K, et al. Among authors: mundlos s. Eur J Hum Genet. 2006 Dec;14(12):1248-54. doi: 10.1038/sj.ejhg.5201708. Epub 2006 Sep 6. Eur J Hum Genet. 2006. PMID: 16957682

6

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. Lehmann K, et al. Among authors: mundlos s. Am J Hum Genet. 2007 Aug;81(2):388-96. doi: 10.1086/519697. Epub 2007 Jun 8. Am J Hum Genet. 2007. PMID: 17668388 Free PMC article.

7

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K. Klopocki E, et al. Among authors: mundlos s. J Med Genet. 2008 Jun;45(6):370-5. doi: 10.1136/jmg.2007.055699. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178630

8

Brachydactyly type A2 associated with a defect in proGDF5 processing.

Plöger F, Seemann P, Schmidt-von Kegler M, Lehmann K, Seidel J, Kjaer KW, Pohl J, Mundlos S. Plöger F, et al. Among authors: mundlos s. Hum Mol Genet. 2008 May 1;17(9):1222-33. doi: 10.1093/hmg/ddn012. Epub 2008 Jan 18. Hum Mol Genet. 2008. PMID: 18203755

9

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

Douzgou S, Lehmann K, Mingarelli R, Mundlos S, Dallapiccola B. Douzgou S, et al. Among authors: mundlos s. Am J Med Genet A. 2008 Aug 15;146A(16):2116-21. doi: 10.1002/ajmg.a.32435. Am J Med Genet A. 2008. PMID: 18629880

10

Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2.

Kalache KD, Lehmann K, Chaoui R, Kivelitz DE, Mundlos S, Bollmann R. Kalache KD, et al. Among authors: mundlos s. Prenat Diagn. 2002 May;22(5):404-7. doi: 10.1002/pd.327. Prenat Diagn. 2002. PMID: 12001196

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