Neumann LM - Search Results

1

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S. Robinson PN, et al. Among authors: neumann lm. Am J Med Genet A. 2005 Jun 15;135(3):251-62. doi: 10.1002/ajmg.a.30431. Am J Med Genet A. 2005. PMID: 15884042

2

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. Robinson PN, et al. Hum Mutat. 2002 Sep;20(3):153-61. doi: 10.1002/humu.10113. Hum Mutat. 2002. PMID: 12203987 Review.

3

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Klopocki E, et al. Among authors: neumann lm. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21. Am J Hum Genet. 2007. PMID: 17236129 Free PMC article.

4

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Türkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. Katzke S, et al. Among authors: neumann lm. Hum Mutat. 2002 Sep;20(3):197-208. doi: 10.1002/humu.10112. Hum Mutat. 2002. PMID: 12203992

5

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: neumann lm. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271

6

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Tiecke F, et al. Eur J Hum Genet. 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582. Eur J Hum Genet. 2001. PMID: 11175294

7

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Among authors: neumann lm. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364

8

A new observation of two cases of acrofacial dysostosis type Genée-Wiedemann in a family--remarks on the mode of inheritance: report on two sibs.

Neumann L, Pelz J, Kunze J. Neumann L, et al. Am J Med Genet. 1996 Sep 6;64(4):556-62. doi: 10.1002/(SICI)1096-8628(19960906)64:4<556::AID-AJMG6>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8870922

9

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.

Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V. Neumann LM, et al. Am J Med Genet A. 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. Am J Med Genet A. 2006. PMID: 16470731

10

[Ocular manifestations and surgical results in patients with Marfan syndrome].

Ladewig MS, Robinson PN, Neumann LM, Holz FG, Foerster MH. Ladewig MS, et al. Among authors: neumann lm. Ophthalmologe. 2006 Sep;103(9):777-82. doi: 10.1007/s00347-006-1386-8. Ophthalmologe. 2006. PMID: 16819661 German.

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