Neumann L - Search Results

1

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. Superti-Furga A, et al. Among authors: neumann l. J Med Genet. 1999 Aug;36(8):621-4. J Med Genet. 1999. PMID: 10465113 Free PMC article.

2

Unilateral terminal aphalangia in father and daughter--exogenous or genetic cause?

Neumann L, Pelz J, Kunze J. Neumann L, et al. Am J Med Genet. 1998 Jul 24;78(4):366-70. doi: 10.1002/(sici)1096-8628(19980724)78:4<366::aid-ajmg12>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9714441 Review.

3

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.

Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A. Zankl A, et al. Among authors: neumann l. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. Am J Med Genet A. 2005. PMID: 15643621

4

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

5

Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.

Neumann L, Kunze J, Uhl M, Stöver B, Zabel B, Spranger J. Neumann L, et al. Pediatr Radiol. 2003 Nov;33(11):786-90. doi: 10.1007/s00247-003-1055-x. Epub 2003 Sep 5. Pediatr Radiol. 2003. PMID: 12961049 Review.

6

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

7

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

8

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. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364

9

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T. Neumann LM, et al. Eur J Pediatr. 2003 Oct;162(10):710-3. doi: 10.1007/s00431-003-1278-8. Epub 2003 Aug 2. Eur J Pediatr. 2003. PMID: 12905014

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

413 results

Search Page