Lehmann K - 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: lehmann k. 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

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: lehmann k. 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

3

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. 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

4

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

Lehmann K, Mundlos S, Meinecke P. Lehmann K, et al. 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.

5

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. 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.

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: lehmann k. 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

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: lehmann k. 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

8

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: lehmann k. 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

9

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K. Zenker M, et al. Among authors: lehmann k. J Med Genet. 2007 Feb;44(2):131-5. doi: 10.1136/jmg.2006.046300. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056636 Free PMC article.

10

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: lehmann k. 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.

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