Neumann LM - Search Results

1

[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.

2

[Retinal capillary angioma. Clinical and molecular genetic studies].

Kreusel KM, Bornfeld N, Bender BU, Neumann L, Foerster MH, Neumann HP. Kreusel KM, et al. Ophthalmologe. 1999 Feb;96(2):71-6. doi: 10.1007/s003470050377. Ophthalmologe. 1999. PMID: 10095351 German.

3

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.

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

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

6

Retinal angiomatosis and von Hippel-Lindau disease.

Kreusel KM, Bechrakis NE, Heinichen T, Neumann L, Neumann HP, Foerster MH. Kreusel KM, et al. Graefes Arch Clin Exp Ophthalmol. 2000 Nov;238(11):916-21. doi: 10.1007/s004170000200. Graefes Arch Clin Exp Ophthalmol. 2000. PMID: 11148816

7

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

8

Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhood.

Langrehr JM, Bahra M, Kristiansen G, Neumann HP, Neumann LM, Plöckinger U, Lopez-Hänninen E. Langrehr JM, et al. Among authors: neumann hp, neumann lm. J Pediatr Surg. 2007 Jul;42(7):1291-4. doi: 10.1016/j.jpedsurg.2007.02.029. J Pediatr Surg. 2007. PMID: 17618900

9

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

10

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Sauter SM, et al. Among authors: neumann lm. Hum Mutat. 2004 Jan;23(1):98. doi: 10.1002/humu.9205. Hum Mutat. 2004. PMID: 14695538

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