Meitinger T - Search Results

1

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.

Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann M, Murken J. Meitinger T, et al. Nat Genet. 1993 Dec;5(4):376-80. doi: 10.1038/ng1293-376. Nat Genet. 1993. PMID: 8298646

2

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

Meindl A, Berger W, Meitinger T, van de Pol D, Achatz H, Dörner C, Haasemann M, Hellebrand H, Gal A, Cremers F, et al. Meindl A, et al. Among authors: meitinger t. Nat Genet. 1992 Oct;2(2):139-43. doi: 10.1038/ng1092-139. Nat Genet. 1992. PMID: 1303264

3

Mutations in the candidate gene for Norrie disease.

Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH. Berger W, et al. Among authors: meitinger t. Hum Mol Genet. 1992 Oct;1(7):461-5. doi: 10.1093/hmg/1.7.461. Hum Mol Genet. 1992. PMID: 1307245 Review.

4

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

Deufel T, Golla A, Iles D, Meindl A, Meitinger T, Schindelhauer D, DeVries A, Pongratz D, MacLennan DH, Johnson KJ, et al. Deufel T, et al. Among authors: meitinger t. Am J Hum Genet. 1992 Jun;50(6):1151-61. Am J Hum Genet. 1992. PMID: 1598899 Free PMC article.

5

[Neurogenetics--the challenge for neurology. Part 1. Gene mapping and gene diagnostics].

Meitinger T, Gasser T. Meitinger T, et al. Nervenarzt. 1991 Oct;62(10):583-9. Nervenarzt. 1991. PMID: 1749450 Review. German.

6

[Neurogenetics--the challenge for neurology. 1. Neurogenetic diseases].

Gasser T, Trenkwalder C, Meitinger T, Witt TN, Murken J, Oertel WH. Gasser T, et al. Among authors: meitinger t. Nervenarzt. 1991 Oct;62(10):590-608. Nervenarzt. 1991. PMID: 1749451 Review. German.

7

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

Meitinger T, Heye B, Petit C, Levilliers J, Golla A, Moraine C, Dalla Piccola B, Sippell WG, Murken J, Ballabio A. Meitinger T, et al. Am J Hum Genet. 1990 Oct;47(4):664-9. Am J Hum Genet. 1990. PMID: 1977309 Free PMC article.

8

The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1.

Schindelhauer D, Schuffenhauer S, Gasser T, Steinkasserer A, Meitinger T. Schindelhauer D, et al. Among authors: meitinger t. Genomics. 1995 Aug 10;28(3):605-7. doi: 10.1006/geno.1995.1202. Genomics. 1995. PMID: 7490108 No abstract available.

9

In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene.

Meitinger T, Golla A, Dörner C, Deufel A, Aulehla-Scholz C, Böhm I, Reinhardt D, Deufel T. Meitinger T, et al. Hum Mol Genet. 1993 Dec;2(12):2173-4. doi: 10.1093/hmg/2.12.2173. Hum Mol Genet. 1993. PMID: 7509232 No abstract available.

10

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.

Golla A, Deufel A, Aulehla-Scholz C, Böhm I, Hilz B, Meitinger T, Deufel T. Golla A, et al. Among authors: meitinger t. Hum Mutat. 1994;3(1):67-8. doi: 10.1002/humu.1380030112. Hum Mutat. 1994. PMID: 7509684 No abstract available.

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