Wehnert M - Search Results

1

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.

Coucke P, Vits L, Van Camp G, Serville F, Lyonnet S, Kenwrick S, Rosenthal A, Wehnert M, Munnich A, Willems PJ. Coucke P, et al. Among authors: wehnert m. Hum Mol Genet. 1994 Apr;3(4):671-3. doi: 10.1093/hmg/3.4.671. Hum Mol Genet. 1994. PMID: 8069317 No abstract available.

2

Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.

Chakarova C, Wehnert MS, Uhl K, Sakthivel S, Vosberg HP, van der Ven PF, Fürst DO. Chakarova C, et al. Among authors: wehnert ms. Hum Genet. 2000 Dec;107(6):597-611. doi: 10.1007/s004390000414. Hum Genet. 2000. PMID: 11153914

3

Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA).

Kuhlenbaeumer G, Meuleman J, Schirmacher A, Stoegbauer F, Ringelstein EB, Wehnert M, Hoeltzenbein M, Broeckhoven CV, Timmerman V. Kuhlenbaeumer G, et al. Among authors: wehnert m. Ann Hum Genet. 1998 Sep;62(Pt 5):397-400. doi: 10.1046/j.1469-1809.1998.6250397.x. Ann Hum Genet. 1998. PMID: 10088036

4

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.

Wittig I, Augstein P, Brown GK, Fujii T, Rötig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M, Wehnert MS. Wittig I, et al. Among authors: wehnert ms. J Inherit Metab Dis. 2001 Feb;24(1):15-27. doi: 10.1023/a:1005638218246. J Inherit Metab Dis. 2001. PMID: 11286378

5

Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein.

Patzak D, Zhuchenko O, Lee CC, Wehnert M. Patzak D, et al. Among authors: wehnert m. Hum Genet. 1999 Nov;105(5):506-12. doi: 10.1007/s004390051138. Hum Genet. 1999. PMID: 10598820

6

Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries.

Lee CC, Yazdani A, Wehnert M, Zhao ZY, Lindsay EA, Bailey J, Coolbaugh MI, Couch L, Xiong M, Chinault AC, et al. Lee CC, et al. Among authors: wehnert m. Hum Mol Genet. 1995 Aug;4(8):1373-80. doi: 10.1093/hmg/4.8.1373. Hum Mol Genet. 1995. PMID: 7581376

7

Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134.

Wehnert M, Reiner O, Caskey CT. Wehnert M, et al. Hum Mol Genet. 1993 Sep;2(9):1503. doi: 10.1093/hmg/2.9.1503. Hum Mol Genet. 1993. PMID: 8242082 No abstract available.

8

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A. Navarro CL, et al. Among authors: wehnert m. Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30. Eur J Hum Genet. 2014. PMID: 24169522 Free PMC article.

9

Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).

Schröder W, Wulff K, Wehnert M, Seidlitz G, Herrmann FH. Schröder W, et al. Among authors: wehnert m. Hum Mutat. 1994;4(2):128-31. doi: 10.1002/humu.1380040206. Hum Mutat. 1994. PMID: 7981716

10

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

Meulemann J, Kuhlenbäumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen E, Pou-Serradell A, Prats JM, Ringelstein B, Stögbauer F, Van Broeckhoven C, Timmerman V. Meulemann J, et al. Among authors: wehnert m. Eur J Hum Genet. 1999 Dec;7(8):920-7. doi: 10.1038/sj.ejhg.5200384. Eur J Hum Genet. 1999. PMID: 10602368

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