Meins M - Search Results

1

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

Laccone F, Huppke P, Hanefeld F, Meins M. Laccone F, et al. Among authors: meins m. Hum Mutat. 2001 Mar;17(3):183-90. doi: 10.1002/humu.3. Hum Mutat. 2001. PMID: 11241840

2

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, Engel W. Trappe R, et al. Among authors: meins m. Am J Hum Genet. 2001 May;68(5):1093-101. doi: 10.1086/320109. Epub 2001 Apr 17. Am J Hum Genet. 2001. PMID: 11309679 Free PMC article.

3

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

Zoll B, Petersen L, Lange K, Gabriel P, Kiese-Himmel C, Rausch P, Berger J, Pasche B, Meins M, Gross M, Berger R, Kruse E, Kunz J, Sperling K, Laccone F. Zoll B, et al. Among authors: meins m. Hum Mutat. 2003 Jan;21(1):98. doi: 10.1002/humu.9098. Hum Mutat. 2003. PMID: 12497637

4

Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.

Meins M, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F. Meins M, et al. Neuropediatrics. 2002 Aug;33(4):194-8. doi: 10.1055/s-2002-34495. Neuropediatrics. 2002. PMID: 12368989

5

Identification and characterization of murine Brunol4, a new member of the elav/bruno family.

Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Gläser B, Grzmil M, Burfeind P, Laccone F. Meins M, et al. Cytogenet Genome Res. 2002;97(3-4):254-60. doi: 10.1159/000066619. Cytogenet Genome Res. 2002. PMID: 12438720

6

A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?

Brockmann K, Meins M, Taubert A, Trappe R, Grond M, Hanefeld F. Brockmann K, et al. Among authors: meins m. Eur Neurol. 2003;50(2):100-5. doi: 10.1159/000072507. Eur Neurol. 2003. PMID: 12944715

7

Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease.

Brockmann K, Dechent P, Meins M, Haupt M, Sperner J, Stephani U, Frahm J, Hanefeld F. Brockmann K, et al. Among authors: meins m. J Neurol. 2003 Mar;250(3):300-6. doi: 10.1007/s00415-003-0995-2. J Neurol. 2003. PMID: 12638020

8

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, Gal A. Janecke AR, et al. Among authors: meins m. Hum Mutat. 1999;13(2):133-40. doi: 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U. Hum Mutat. 1999. PMID: 10094549

9

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C. Zwaenepoel I, et al. Among authors: meins m. Hum Mutat. 2001;17(1):34-41. doi: 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O. Hum Mutat. 2001. PMID: 11139240

10

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.

Grüning G, Millan JM, Meins M, Beneyto M, Caballero M, Apfelstedt-Sylla E, Bosch R, Zrenner E, Prieto F, Gal A. Grüning G, et al. Among authors: meins m. Hum Mutat. 1994;3(3):321-3. doi: 10.1002/humu.1380030326. Hum Mutat. 1994. PMID: 8019570 No abstract available.

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